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Huda Y. Zoghbi - Publications

Affiliations: 
Baylor College of Medicine, Houston, TX 
Area:
SCA1, SCA7, Rett's syndrome, and Math1
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Year Citation  Score
2024 Kim Y, McInnes J, Kim J, Liang YHW, Veeraragavan S, Garza AR, Belfort BDW, Arenkiel B, Samaco R, Zoghbi HY. Olfactory deficit and gastrointestinal dysfunction precede motor abnormalities in alpha-Synuclein G51D knock-in mice. Proceedings of the National Academy of Sciences of the United States of America. 121: e2406479121. PMID 39284050 DOI: 10.1073/pnas.2406479121  0.695
2024 Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY. Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels. Human Molecular Genetics. PMID 39277796 DOI: 10.1093/hmg/ddae135  0.681
2024 Duvick L, Southern WM, Benzow KA, Burch ZN, Handler HP, Mitchell JS, Kuivinen H, Gadiparthi U, Yang P, Soles A, Sheeler CA, Rainwater O, Serres S, Lind EB, Nichols-Meade T, ... ... Zoghbi HY, et al. Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease. Jci Insight. PMID 38512434 DOI: 10.1172/jci.insight.176057  0.676
2023 Tejwani L, Ravindra NG, Lee C, Cheng Y, Nguyen B, Luttik K, Ni L, Zhang S, Morrison LM, Gionco J, Xiang Y, Yoon J, Ro H, Haidery F, Grijalva RM, ... ... Zoghbi HY, et al. Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1. Neuron. PMID 38016472 DOI: 10.1016/j.neuron.2023.10.039  0.695
2023 Zhou J, Cattoglio C, Shao Y, Tirumala HP, Vetralla C, Bajikar SS, Li Y, Chen H, Wang Q, Wu Z, Tang B, Zahabiyon M, Bajic A, Meng X, Ferrie JJ, ... ... Zoghbi HY, et al. A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels. Genes & Development. PMID 37890975 DOI: 10.1101/gad.350733.123  0.679
2023 Duvick L, Southern WM, Benzow K, Handler HP, Mitchell JS, Kuivinen H, Gadiparthi UK, Yang P, Soles A, Scheeler C, Rainwater O, Shannah S, Larson E, Nichols-Meade T, You Y, ... ... Zoghbi HY, et al. Regional vulnerability in a neurodegenerative disease: Delineating SCA1 CNS and muscle therapeutic targets using a conditional mutant ATXN1 mouse. Biorxiv : the Preprint Server For Biology. PMID 36798410 DOI: 10.1101/2023.02.08.527710  0.686
2022 Handler HP, Duvick L, Mitchell JS, Cvetanovic M, Reighard M, Soles A, Mather KB, Rainwater O, Serres S, Nichols-Meade T, Coffin SL, You Y, Ruis BL, O'Callaghan B, Henzler C, ... Zoghbi HY, et al. Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles. Neuron. PMID 36577403 DOI: 10.1016/j.neuron.2022.11.017  0.696
2022 Coffin SL, Durham MA, Nitschke L, Xhako E, Brown AM, Revelli JP, Villavicencio Gonzalez E, Lin T, Handler HP, Dai Y, Trostle AJ, Wan YW, Liu Z, Sillitoe RV, Orr HT, ... Zoghbi HY, et al. Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1. Neuron. PMID 36577402 DOI: 10.1016/j.neuron.2022.11.016  0.311
2022 Lee WS, Al-Ramahi I, Jeong HH, Jang Y, Lin T, Adamski CJ, Lavery LA, Rath S, Richman R, Bondar VV, Alcala E, Revelli JP, Orr HT, Liu Z, Botas J, ... Zoghbi HY, et al. Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1. The Journal of Clinical Investigation. 132. PMID 35499073 DOI: 10.1172/JCI156616  0.32
2022 He L, Caudill MS, Jing J, Wang W, Sun Y, Tang J, Jiang X, Zoghbi HY. A weakened recurrent circuit in the hippocampus of Rett syndrome mice disrupts long-term memory representations. Neuron. PMID 35290792 DOI: 10.1016/j.neuron.2022.02.014  0.675
2022 Orengo JP, Nitschke L, van der Heijden ME, Ciaburri NA, Orr HT, Zoghbi HY. Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model. Jci Insight. 7. PMID 35290244 DOI: 10.1172/jci.insight.154442  0.304
2022 Zhou J, Hamdan H, Yalamanchili HK, Pang K, Pohodich AE, Lopez J, Shao Y, Oses-Prieto JA, Li L, Kim W, Durham MA, Bajikar SS, Palmer DJ, Ng P, Thompson ML, ... ... Zoghbi HY, et al. Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders. Proceedings of the National Academy of Sciences of the United States of America. 119. PMID 35074918 DOI: 10.1073/pnas.2119078119  0.32
2021 McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, ... ... Zoghbi H, et al. Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Human Mutation. PMID 34837432 DOI: 10.1002/humu.24302  0.699
2021 Vázquez-Vélez GE, Zoghbi HY. Parkinson's Disease Genetics and Pathophysiology. Annual Review of Neuroscience. 44: 87-108. PMID 34236893 DOI: 10.1146/annurev-neuro-100720-034518  0.777
2021 Shao Y, Sztainberg Y, Wang Q, Bajikar SS, Trostle AJ, Wan YW, Jafar-Nejad P, Rigo F, Liu Z, Tang J, Zoghbi HY. Antisense oligonucleotide therapy in a humanized mouse model of duplication syndrome. Science Translational Medicine. 13. PMID 33658357 DOI: 10.1126/scitranslmed.aaz7785  0.682
2021 Achilly NP, He LJ, Kim OA, Ohmae S, Wojaczynski GJ, Lin T, Sillitoe RV, Medina JF, Zoghbi HY. Deleting from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice. Elife. 10. PMID 33494858 DOI: 10.7554/eLife.64833  0.733
2020 Ward CS, Huang TW, Herrera JA, Samaco RC, McGraw CM, Parra DE, Arvide EM, Ito-Ishida A, Meng X, Ure K, Zoghbi HY, Neul JL. Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia. Frontiers in Neurology. 11: 593554. PMID 33193060 DOI: 10.3389/fneur.2020.593554  0.809
2020 Ito-Ishida A, Baker SA, Sillitoe RV, Sun Y, Zhou J, Ono Y, Iwakiri J, Yuzaki M, Zoghbi HY. MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 33046553 DOI: 10.1523/JNEUROSCI.1281-19.2020  0.611
2020 Nitschke L, Tewari A, Coffin SL, Xhako E, Pang K, Gennarino VA, Johnson JL, Blanco FA, Liu Z, Zoghbi HY. miR760 regulates ATXN1 levels via interaction with its 5' untranslated region. Genes & Development. PMID 32763910 DOI: 10.1101/Gad.339317.120  0.345
2020 Sandweiss AJ, Brandt VL, Zoghbi HY. Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies. The Lancet. Neurology. 19: 689-698. PMID 32702338 DOI: 10.1016/S1474-4422(20)30217-9  0.406
2020 Pang K, Wang L, Wang W, Zhou J, Cheng C, Han K, Zoghbi HY, Liu Z. Coexpression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders. Genome Research. PMID 32554779 DOI: 10.1101/Gr.254987.119  0.381
2020 Yalamanchili HK, Alcott CE, Ji P, Wagner EJ, Zoghbi HY, Liu Z. PolyA-miner: accurate assessment of differential alternative poly-adenylation from 3'Seq data using vector projections and non-negative matrix factorization. Nucleic Acids Research. PMID 32463457 DOI: 10.1093/Nar/Gkaa398  0.328
2020 Fagiolini M, Patrizi A, LeBlanc J, Jin LW, Maezawa I, Sinnett S, Gray SJ, Molholm S, Foxe JJ, Johnston MV, Naidu S, Blue M, Hossain A, Kadam S, Zhao X, ... ... Zoghbi H, et al. Intellectual and Developmental Disabilities Research Centers: a multidisciplinary approach to understand the pathogenesis of MECP2-related disorders. Neuroscience. PMID 32360592 DOI: 10.1016/J.Neuroscience.2020.04.037  0.368
2020 Myers SM, Challman TD, Bernier R, Bourgeron T, Chung WK, Constantino JN, Eichler EE, Jacquemont S, Miller DT, Mitchell KJ, Zoghbi HY, Martin CL, Ledbetter DH. Insufficient Evidence for "Autism-Specific" Genes. American Journal of Human Genetics. PMID 32359473 DOI: 10.1016/J.Ajhg.2020.04.004  0.332
2020 Alcott CE, Yalamanchili HK, Ji P, van der Heijden ME, Saltzman A, Elrod N, Lin A, Leng M, Bhatt B, Hao S, Wang Q, Saliba A, Tang J, Malovannaya A, Wagner EJ, ... ... Zoghbi HY, et al. Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation. Elife. 9. PMID 32319885 DOI: 10.7554/Elife.50895  0.429
2020 Lavery LA, Ure K, Wan YW, Luo C, Trostle AJ, Wang W, Jin H, Lopez J, Lucero J, Durham MA, Castanon R, Nery JR, Liu Z, Goodell M, Ecker JR, ... ... Zoghbi HY, et al. Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome. Elife. 9. PMID 32159514 DOI: 10.7554/Elife.52981  0.403
2020 Chen W, Cai ZL, Chao ES, Chen H, Longley CM, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. haploinsufficiency impairs inhibition and mediates key neurological features of encephalopathy. Elife. 9. PMID 32073399 DOI: 10.7554/Elife.48705  0.721
2020 Luo L, Ambrozkiewicz MC, Benseler F, Chen C, Dumontier E, Falkner S, Furlanis E, Gomez AM, Hoshina N, Huang WH, Hutchison MA, Itoh-Maruoka Y, Lavery LA, Li W, Maruo T, ... ... Zoghbi HY, et al. Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors. Neuron. PMID 32027825 DOI: 10.1016/J.Neuron.2020.01.008  0.623
2020 Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Human Molecular Genetics. PMID 31943016 DOI: 10.1093/Hmg/Ddz305  0.591
2020 Lavery LA, Ure K, Wan Y, Luo C, Trostle AJ, Wang W, Jin H, Lopez J, Lucero J, Durham MA, Castanon R, Nery JR, Liu Z, Goodell M, Ecker JR, ... ... Zoghbi HY, et al. Author response: Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome Elife. DOI: 10.7554/Elife.52981.Sa2  0.337
2020 Alcott CE, Yalamanchili HK, Ji P, Heijden MEvd, Saltzman A, Elrod N, Lin A, Leng M, Bhatt B, Hao S, Wang Q, Saliba A, Tang J, Malovannaya A, Wagner EJ, ... ... Zoghbi HY, et al. Author response: Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation Elife. DOI: 10.7554/Elife.50895.Sa2  0.302
2020 Chen W, Cai Z, Chao ES, Chen H, Longley CM, Hao S, Chao H, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. Author response: Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy Elife. DOI: 10.7554/Elife.48705.Sa2  0.661
2019 van der Heijden ME, Zoghbi HY. Development of the brainstem respiratory circuit. Wiley Interdisciplinary Reviews. Developmental Biology. e366. PMID 31816185 DOI: 10.1002/wdev.366  0.331
2019 Vázquez-Vélez GE, Gonzales KA, Revelli JP, Adamski CJ, Alavi Naini F, Bajić A, Craigen E, Richman R, Heman-Ackah SM, Wood MJA, Rousseaux MWC, Zoghbi HY. Doublecortin like kinase 1 regulates α-Synuclein levels and toxicity. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 31748376 DOI: 10.1523/Jneurosci.1076-19.2019  0.788
2019 Zoghbi HY. Strategy to selectively remove mutant proteins could combat neurodegeneration. Nature. 575: 57-58. PMID 31690850 DOI: 10.1038/d41586-019-03243-7  0.311
2019 Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, ... ... Zoghbi HY, et al. Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Human Molecular Genetics. PMID 31600777 DOI: 10.1093/Hmg/Ddz233  0.611
2019 Patel AJ, Wan YW, Al-Ouran R, Revelli JP, Cardenas MF, Oneissi M, Xi L, Jalali A, Magnotti JF, Muzny DM, Doddapaneni H, Sebastian S, Heck KA, Goodman JC, Gopinath SP, ... ... Zoghbi HY, et al. Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors. Proceedings of the National Academy of Sciences of the United States of America. PMID 31591222 DOI: 10.1073/Pnas.1912858116  0.7
2019 Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW. deletion from cholinergic neurons selectively impairs recognition memory and disrupts cholinergic modulation of the perirhinal cortex. Eneuro. PMID 31562178 DOI: 10.1523/ENEURO.0134-19.2019  0.633
2019 Lavery LA, Zoghbi HY. The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis. Current Opinion in Neurobiology. 59: 180-188. PMID 31542590 DOI: 10.1016/J.Conb.2019.08.001  0.382
2019 Meng X, McGraw CM, Wang W, Jing J, Yeh SY, Wang L, Lopez J, Brown AM, Lin T, Chen W, Xue M, Sillitoe RV, Jiang X, Zoghbi HY. Neurexophilin4 is a selectively expressed α-neurexin ligand that modulates specific cerebellar synapses and motor functions. Elife. 8. PMID 31524598 DOI: 10.7554/Elife.46773  0.756
2019 Suh J, Romano DM, Nitschke L, Herrick SP, DiMarzio BA, Dzhala V, Bae JS, Oram MK, Zheng Y, Hooli B, Mullin K, Gennarino VA, Wasco W, Schmahmann JD, Albers MW, ... Zoghbi HY, et al. Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription. Cell. 178: 1159-1175.e17. PMID 31442405 DOI: 10.1016/J.Ibror.2019.07.707  0.324
2019 Walkley SU, Abbeduto L, Batshaw ML, Bhattacharyya A, Bookheimer SY, Christian BT, Constantino JN, de Vellis J, Doherty DA, Nelson DL, Piven J, Poduri A, Pomeroy SL, Samaco RC, Zoghbi HY, et al. Intellectual and Developmental Disabilities Research Centers: 50 Years of Scientific Accomplishments. Annals of Neurology. PMID 31206741 DOI: 10.1002/Ana.25531  0.687
2019 Huichalaf CH, Al-Ramahi I, Park KW, Grunke SD, Lu N, Haro M, El-Zein K, Gallego-Flores T, Perez AM, Jung SY, Botas J, Zoghbi HY, Jankowsky JL. Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease. Human Molecular Genetics. PMID 30753434 DOI: 10.1093/hmg/ddz034  0.328
2019 Wang L, Adamski CJ, Bondar VV, Craigen E, Collette JR, Pang K, Han K, Jain A, Y Jung S, Liu Z, Sifers RN, Holder JL, Zoghbi HY. A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Molecular Psychiatry. PMID 30696942 DOI: 10.1038/S41380-018-0325-9  0.437
2019 Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL, ... Zoghbi HY, et al. An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Molecular Psychiatry. PMID 30610205 DOI: 10.1038/S41380-018-0324-X  0.767
2018 Friedrich J, Kordasiewicz HB, O'Callaghan B, Handler HP, Wagener C, Duvick L, Swayze EE, Rainwater O, Hofstra B, Benneyworth M, Nichols-Meade T, Yang P, Chen Z, Ortiz JP, Clark HB, ... ... Zoghbi HY, et al. Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles. Jci Insight. 3. PMID 30385727 DOI: 10.1172/Jci.Insight.123193  0.382
2018 De Maio A, Yalamanchili HK, Adamski CJ, Gennarino VA, Liu Z, Qin J, Jung SY, Richman R, Orr H, Zoghbi HY. RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins. Cell Reports. 25: 726-736.e7. PMID 30332651 DOI: 10.1016/J.Celrep.2018.09.041  0.312
2018 Rousseaux MWC, Vázquez-Vélez GE, Al-Ramahi I, Jeong HH, Bajic A, Revelli JP, Ye H, Phan ET, Deger JM, Perez AM, Kim JY, Lavery LA, Xu Q, Li MZ, Kang H, ... ... Zoghbi HY, et al. A druggable genome screen identifies modifiers of α-synuclein levels via a tiered cross-species validation approach. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 30249792 DOI: 10.1523/Jneurosci.0254-18.2018  0.793
2018 Tan Q, Zoghbi HY. Mouse models as a tool for discovering new neurological diseases. Neurobiology of Learning and Memory. PMID 30030131 DOI: 10.1016/j.nlm.2018.07.006  0.373
2018 van der Heijden ME, Zoghbi HY. Loss of from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice. Elife. 7. PMID 29972353 DOI: 10.7554/eLife.38455  0.348
2018 Rousseaux MW, Revelli JP, Vázquez-Vélez GE, Kim JY, Craigen E, Gonzales K, Beckinghausen J, Zoghbi HY. Depleting Trim28 in adult mice is well tolerated and reduces levels of α-synuclein and tau. Elife. 7. PMID 29863470 DOI: 10.7554/Elife.36768  0.787
2018 Bondar VV, Adamski CJ, Onur TS, Tan Q, Wang L, Diaz-Garcia J, Park J, Orr HT, Botas J, Zoghbi HY. PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in Spinocerebellar ataxia type 1. Human Molecular Genetics. PMID 29860311 DOI: 10.1093/Hmg/Ddy200  0.709
2018 Ito-Ishida A, Yamalanchili HK, Shao Y, Baker SA, Heckman LD, Lavery LA, Kim JY, Lombardi LM, Sun Y, Liu Z, Zoghbi HY. Genome-wide distribution of linker histone H1.0 is independent of MeCP2. Nature Neuroscience. 21: 794-798. PMID 29802390 DOI: 10.1038/S41593-018-0155-8  0.539
2018 Pérez Ortiz JM, Mollema N, Toker N, Adamski CJ, O'Callaghan B, Duvick L, Friedrich J, Walters MA, Strasser J, Hawkinson JE, Zoghbi HY, Henzler C, Orr HT, Lagalwar S. Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model. Neurobiology of Disease. PMID 29758256 DOI: 10.1016/J.Nbd.2018.05.002  0.362
2018 Pohodich AE, Yalamanchili H, Raman AT, Wan YW, Gundry M, Hao S, Jin H, Tang J, Liu Z, Zoghbi HY. Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity. Elife. 7. PMID 29570050 DOI: 10.7554/Elife.34031  0.384
2018 Rousseaux MWC, Tschumperlin T, Lu HC, Lackey EP, Bondar VV, Wan YW, Tan Q, Adamski CJ, Friedrich J, Twaroski K, Chen W, Tolar J, Henzler C, Sharma A, Bajić A, ... ... Zoghbi HY, et al. ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. PMID 29526553 DOI: 10.1016/J.Neuron.2018.02.013  0.409
2018 Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, ... ... Zoghbi HY, et al. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 172: 924-936.e11. PMID 29474920 DOI: 10.1016/j.cell.2018.02.006  0.618
2018 Orengo JP, van der Heijden ME, Hao S, Tang J, Orr HT, Zoghbi HY. Motor neuron degeneration correlates with respiratory dysfunction in SCA1. Disease Models & Mechanisms. PMID 29419414 DOI: 10.1242/Dmm.032623  0.343
2018 Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H, Pang K, Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, Schaaf CP. Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. American Journal of Human Genetics. 102: 296-308. PMID 29395075 DOI: 10.1016/J.Ajhg.2018.01.005  0.785
2018 Tan Q, Brunetti L, Rousseaux MWC, Lu HC, Wan YW, Revelli JP, Liu Z, Goodell MA, Zoghbi HY. Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma. Proceedings of the National Academy of Sciences of the United States of America. PMID 29382756 DOI: 10.1073/Pnas.1716452115  0.312
2018 Heijden MEvd, Zoghbi HY. Author response: Loss of Atoh1 from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice Elife. DOI: 10.7554/Elife.38455.028  0.346
2018 Rousseaux MW, Revelli J, Vázquez-Vélez GE, Kim J, Craigen E, Gonzales K, Beckinghausen J, Zoghbi HY. Author response: Depleting Trim28 in adult mice is well tolerated and reduces levels of α-synuclein and tau Elife. DOI: 10.7554/Elife.36768.017  0.731
2017 Klisch TJ, Vainshtein A, Patel AJ, Zoghbi HY. Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth. Elife. 6. PMID 29168692 DOI: 10.7554/Elife.31181  0.712
2017 Lombardi LM, Zaghlula M, Sztainberg Y, Baker SA, Klisch TJ, Tang AA, Huang EJ, Zoghbi HY. An RNA interference screen identifies druggable regulators of MeCP2 stability. Science Translational Medicine. 9. PMID 28835516 DOI: 10.1126/Scitranslmed.Aaf7588  0.79
2017 Rose Xie W, Jen HI, Seymour ML, Yeh SY, Pereira FA, Groves AK, Klisch TJ, Zoghbi HY. An Atoh1-S193A phospho-mutant allele causes hearing deficits and motor impairment. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 28729444 DOI: 10.1523/JNEUROSCI.0295-17.2017  0.715
2017 Jeong HH, Kim SY, Rousseaux MW, Zoghbi HY, Liu Z. CRISPRcloud: A secure cloud-based pipeline for CRISPR pooled screen deconvolution. Bioinformatics (Oxford, England). PMID 28541456 DOI: 10.1093/Bioinformatics/Btx335  0.693
2017 Zoghbi HY. Solving the puzzle of neurological diseases: an interview with Huda Zoghbi. Disease Models & Mechanisms. 10: 503-507. PMID 28468936 DOI: 10.1242/dmm.029751  0.318
2017 Yeh SY, Huang WH, Wang W, Ward CS, Chao ES, Wu Z, Tang B, Tang J, Sun JJ, Esther van der Heijden M, Gray PA, Xue M, Ray RS, Ren D, Zoghbi HY. Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn. Neuron. PMID 28392070 DOI: 10.1016/J.Neuron.2017.03.024  0.674
2017 Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, ... ... Zoghbi HY, et al. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nature Genetics. PMID 28288114 DOI: 10.1038/Ng.3808  0.808
2017 Jung SY, Choi JM, Rousseaux MW, Malovannaya A, Kim JJ, Kutzera J, Wang Y, Huang Y, Zhu W, Maity S, Zoghbi HY, Qin J. An anatomically resolved mouse brain proteome reveals Parkinson disease-relevant pathways. Molecular & Cellular Proteomics : McP. PMID 28153913 DOI: 10.1074/Mcp.M116.061440  0.754
2017 Klisch TJ, Vainshtein A, Patel AJ, Zoghbi HY. Author response: Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth Elife. DOI: 10.7554/Elife.31181.021  0.435
2016 Tan Q, Yalamanchili HK, Park J, De Maio A, Lu HC, Wan YW, White JJ, Bondar VV, Sayegh LS, Liu X, Gao Y, Sillitoe RV, Orr HT, Liu Z, Zoghbi HY. Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models. Human Molecular Genetics. PMID 28007900 DOI: 10.1093/Hmg/Ddw337  0.724
2016 Bhat N, Park J, Zoghbi HY, Arthur JS, Zaret KS. The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development. Plos One. 11: e0166703. PMID 27973548 DOI: 10.1371/Journal.Pone.0166703  0.664
2016 Katsnelson A, De Strooper B, Zoghbi HY. Neurodegeneration: From cellular concepts to clinical applications. Science Translational Medicine. 8: 364ps18. PMID 27831899 DOI: 10.1126/scitranslmed.aal2074  0.344
2016 Sztainberg Y, Zoghbi HY. Lessons learned from studying syndromic autism spectrum disorders. Nature Neuroscience. 19: 1408-1417. PMID 27786181 DOI: 10.1038/nn.4420  0.4
2016 Rousseaux MW, de Haro M, Lasagna-Reeves CA, De Maio A, Park J, Jafar-Nejad P, Al-Ramahi I, Sharma A, See L, Lu N, Vilanova-Velez L, Klisch TJ, Westbrook TF, Troncoso JC, Botas J, ... Zoghbi HY, et al. TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau. Elife. 5. PMID 27779468 DOI: 10.7554/Elife.19809  0.791
2016 Lasagna-Reeves CA, de Haro M, Hao S, Park J, Rousseaux MW, Al-Ramahi I, Jafar-Nejad P, Vilanova-Velez L, See L, De Maio A, Nitschke L, Wu Z, Troncoso JC, Westbrook TF, Tang J, ... ... Zoghbi HY, et al. Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model. Neuron. PMID 27720485 DOI: 10.1016/J.Neuron.2016.09.022  0.799
2016 Zoghbi HY. Rett Syndrome and the Ongoing Legacy of Close Clinical Observation. Cell. 167: 293-297. PMID 27716498 DOI: 10.1016/j.cell.2016.09.039  0.314
2016 Lu H, Ash RT, He L, Kee SE, Wang W, Yu D, Hao S, Meng X, Ure K, Ito-Ishida A, Tang B, Sun Y, Ji D, Tang J, Arenkiel BR, ... ... Zoghbi HY, et al. Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model. Neuron. PMID 27499081 DOI: 10.1016/J.Neuron.2016.07.018  0.814
2016 Meng X, Wang W, Lu H, He LJ, Chen W, Chao E, Fiorotto ML, Tang B, Herrera JA, Seymour ML, Neul JL, Pereira FA, Tang J, Xue M, Zoghbi HY. Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders. Elife. 5. PMID 27328325 DOI: 10.7554/Elife.14199  0.815
2016 Ure K, Lu H, Wang W, Ito-Ishida A, Wu Z, He LJ, Sztainberg Y, Chen W, Tang J, Zoghbi HY. Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett Syndrome. Elife. 5. PMID 27328321 DOI: 10.7554/Elife.14198  0.767
2016 Ingram M, Wozniak EA, Duvick L, Yang R, Bergmann P, Carson R, O'Callaghan B, Zoghbi HY, Henzler C, Orr HT. Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways. Neuron. PMID 26948890 DOI: 10.1016/J.Neuron.2016.02.011  0.391
2016 Zoghbi HY, Beaudet AL. Epigenetics and Human Disease. Cold Spring Harbor Perspectives in Biology. 8. PMID 26834142 DOI: 10.1101/cshperspect.a019497  0.531
2016 Quan XJ, Yuan L, Tiberi L, Claeys A, De Geest N, Yan J, van der Kant R, Xie WR, Klisch TJ, Shymkowitz J, Rousseau F, Bollen M, Beullens M, Zoghbi HY, Vanderhaeghen P, et al. Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis. Cell. 164: 460-475. PMID 26824657 DOI: 10.1016/j.cell.2015.12.048  0.703
2016 Rousseaux MW, Haro Md, Lasagna-Reeves CA, Maio AD, Park J, Jafar-Nejad P, Al-Ramahi I, Sharma A, See L, Lu N, Vilanova-Velez L, Klisch TJ, Westbrook TF, Troncoso JC, Botas J, ... Zoghbi HY, et al. Author response: TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau Elife. DOI: 10.7554/Elife.19809.028  0.767
2016 Meng X, Wang W, Lu H, He L, Chen W, Chao ES, Fiorotto ML, Tang B, Herrera JA, Seymour ML, Neul JL, Pereira FA, Tang J, Xue M, Zoghbi HY. Author response: Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders Elife. DOI: 10.7554/Elife.14199.020  0.734
2016 Ure K, Lu H, Wang W, Ito-Ishida A, Wu Z, He L, Sztainberg Y, Chen W, Tang J, Zoghbi HY. Author response: Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome Elife. DOI: 10.7554/Elife.14198.015  0.748
2015 Lasagna-Reeves CA, Rousseaux MW, Guerrero-Munoz MJ, Vilanova-Velez L, Park J, See L, Jafar-Nejad P, Richman R, Orr HT, Kayed R, Zoghbi HY. Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes. Elife. 4. PMID 26673892 DOI: 10.7554/Elife.10891  0.793
2015 Sztainberg Y, Chen HM, Swann JW, Hao S, Tang B, Wu Z, Tang J, Wan YW, Liu Z, Rigo F, Zoghbi HY. Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature. PMID 26605526 DOI: 10.1038/Nature16159  0.667
2015 Ito-Ishida A, Ure K, Chen H, Swann JW, Zoghbi HY. Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes. Neuron. 88: 651-658. PMID 26590342 DOI: 10.1016/J.Neuron.2015.10.029  0.646
2015 Hao S, Tang B, Wu Z, Ure K, Sun Y, Tao H, Gao Y, Patel AJ, Curry DJ, Samaco RC, Zoghbi HY, Tang J. Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice. Nature. 526: 430-4. PMID 26469053 DOI: 10.1038/Nature15694  0.757
2015 Zoghbi HY, Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, et al. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 4. PMID 26312503 DOI: 10.7554/Elife.10782  0.585
2015 Baker SA, Lombardi LM, Zoghbi HY. Karyopherin α 3 and Karyopherin α 4 Proteins Mediate the Nuclear Import of Methyl-CpG Binding Protein 2. The Journal of Biological Chemistry. 290: 22485-93. PMID 26245896 DOI: 10.1074/jbc.M115.658104  0.604
2015 Lombardi LM, Baker SA, Zoghbi HY. MECP2 disorders: from the clinic to mice and back. The Journal of Clinical Investigation. 125: 2914-23. PMID 26237041 DOI: 10.1172/JCI78167  0.636
2015 Pohodich AE, Zoghbi HY. Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Human Molecular Genetics. 24: R10-6. PMID 26060191 DOI: 10.1093/hmg/ddv217  0.418
2015 Lasagna-Reeves CA, Rousseaux MW, Guerrero-Muñoz MJ, Park J, Jafar-Nejad P, Richman R, Lu N, Sengupta U, Litvinchuk A, Orr HT, Kayed R, Zoghbi HY. A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1. Elife. 4. PMID 25988806 DOI: 10.7554/Elife.07558  0.799
2015 Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. 112: 5509-14. PMID 25870282 DOI: 10.1073/Pnas.1505909112  0.602
2015 Cai T, Jen HI, Kang H, Klisch TJ, Zoghbi HY, Groves AK. Characterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factor. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 35: 5870-83. PMID 25855195 DOI: 10.1523/JNEUROSCI.5083-14.2015  0.677
2015 Gennarino VA, Singh RK, White JJ, De Maio A, Han K, Kim JY, Jafar-Nejad P, di Ronza A, Kang H, Sayegh LS, Cooper TA, Orr HT, Sillitoe RV, Zoghbi HY. Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels. Cell. 160: 1087-98. PMID 25768905 DOI: 10.1016/J.Cell.2015.02.012  0.723
2015 Kim E, Park S, Choi N, Lee J, Yoe J, Kim S, Jung HY, Kim KT, Kang H, Fryer JD, Zoghbi HY, Hwang D, Lee Y. Deficiency of Capicua disrupts bile acid homeostasis. Scientific Reports. 5: 8272. PMID 25653040 DOI: 10.1038/Srep08272  0.722
2015 Rousseaux MW, Zoghbi HY. Deep brain stimulation for Parkinson disease: the 2014 Lasker-DeBakey Clinical Medical Research Award. Jama Neurology. 72: 259-60. PMID 25560048 DOI: 10.1001/jamaneurol.2014.4109  0.707
2015 Han K, Chen H, Gennarino VA, Richman R, Lu HC, Zoghbi HY. Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice. Human Molecular Genetics. 24: 1813-23. PMID 25432536 DOI: 10.1093/hmg/ddu595  0.419
2015 Lasagna-Reeves CA, Rousseaux MW, Guerrero-Munoz MJ, Vilanova-Velez L, Park J, See L, Jafar-Nejad P, Richman R, Orr HT, Kayed R, Zoghbi HY. Author response: Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes Elife. DOI: 10.7554/Elife.10891.010  0.772
2015 Gennarino VA, Alcott CE, Chen C, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, Neilson JR, ... ... Zoghbi HY, et al. Author response: NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation Elife. DOI: 10.7554/Elife.10782.011  0.305
2015 Lasagna-Reeves CA, Rousseaux MW, Guerrero-Muñoz MJ, Park J, Jafar-Nejad P, Richman R, Lu N, Sengupta U, Litvinchuk A, Orr HT, Kayed R, Zoghbi HY. Author response: A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1 Elife. DOI: 10.7554/Elife.07558.025  0.757
2015 Lasagna-Reeves CA, Rousseaux MWC, Guerrero-Munoz MJ, Park J, Jafar-Nejad P, Richman R, Lu N, Sengupta U, Litvinchuk A, Orr HT, Kayed R, Zoghbi HY. A native interactor scaffolds and stabilizes toxic Ataxin-1 oligomers in SCA1 Elife. 4: 1-46. DOI: 10.7554/eLife.07558  0.759
2015 Lombardi LM, Baker SA, Zoghbi HY. MECP2 disorders: From the clinic to mice and back Journal of Clinical Investigation. 125: 2914-2923. DOI: 10.1172/JCI78167  0.525
2015 Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. Correction: MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome (Proceedings of the National Academy of Sciences of the United States of America (2015) 112, 17 (5509-5514) DOI: 10.1073/pnas.1505909112) Proceedings of the National Academy of Sciences of the United States of America. 112: E2982. DOI: 10.1073/Pnas.1507794112  0.567
2015 Rousseaux M, de Haro M, Lasagna-Reeves C, De Maio A, Jafar-Nejad P, Park J, Al-Ramahi I, Kayed R, Botas H, Zoghbi H. TRIM28 regulates the stability and toxicity of alpha-synuclein and tau through a common mechanism Journal of the Neurological Sciences. 357: e285-e286. DOI: 10.1016/J.Jns.2015.08.996  0.767
2015 Lasagna-Reeves C, Al Ramahi I, de Haro M, Rousseaux M, Kim J, Jafar-Nejad P, Vilanova-Velez L, Westbrook T, Botas J, Zoghbi H. Targeting tau protein stability in alzheimer disease to identify novel therapeutic entry points Journal of the Neurological Sciences. 357: e131. DOI: 10.1016/J.Jns.2015.08.422  0.784
2014 Heckman LD, Chahrour MH, Zoghbi HY. Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 3. PMID 24970834 DOI: 10.7554/eLife.02676  0.733
2014 Tupal S, Huang WH, Picardo MC, Ling GY, Del Negro CA, Zoghbi HY, Gray PA. Atoh1-dependent rhombic lip neurons are required for temporal delay between independent respiratory oscillators in embryonic mice. Elife. 3: e02265. PMID 24842997 DOI: 10.7554/Elife.02265  0.521
2014 Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, ... ... Zoghbi HY, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 751-8. PMID 24651605 DOI: 10.1038/Gim.2014.22  0.551
2014 Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, ... ... Zoghbi HY, et al. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303-9. PMID 24462372 DOI: 10.1016/J.Ajhg.2014.01.002  0.545
2014 Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Brief report: MECP2 mutations in people without Rett syndrome. Journal of Autism and Developmental Disorders. 44: 703-11. PMID 23921973 DOI: 10.1007/s10803-013-1902-z  0.739
2014 Heckman LD, Chahrour MH, Zoghbi HY. Author response: Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice Elife. DOI: 10.7554/Elife.02676.011  0.358
2014 Tupal S, Huang W, Picardo MCD, Ling G, Negro CAD, Zoghbi HY, Gray PA. Author response: Atoh1-dependent rhombic lip neurons are required for temporal delay between independent respiratory oscillators in embryonic mice Elife. DOI: 10.7554/Elife.02265.021  0.535
2014 Maricich SM, Zoghbi HY. Dominantly Inherited Spinocerebellar Syndromes Neuromuscular Disorders of Infancy, Childhood, and Adolescence: a Clinician's Approach. 1003-1032. DOI: 10.1016/B978-0-12-417044-5.00050-0  0.647
2013 Jiang M, Ash RT, Baker SA, Suter B, Ferguson A, Park J, Rudy J, Torsky SP, Chao HT, Zoghbi HY, Smirnakis SM. Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 19518-33. PMID 24336718 DOI: 10.1523/Jneurosci.1745-13.2013  0.714
2013 Han K, Holder JL, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, ... Zoghbi HY, et al. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 503: 72-7. PMID 24153177 DOI: 10.1038/Nature12630  0.597
2013 Perroud B, Jafar-Nejad P, Wikoff WR, Gatchel JR, Wang L, Barupal DK, Crespo-Barreto J, Fiehn O, Zoghbi HY, Kaddurah-Daouk R. Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects. Plos One. 8: e70610. PMID 23936457 DOI: 10.1371/Journal.Pone.0070610  0.786
2013 Ju H, Kokubu H, Todd TW, Kahle JJ, Kim S, Richman R, Chirala K, Orr HT, Zoghbi HY, Lim J. Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 9328-36. PMID 23719801 DOI: 10.1523/Jneurosci.3465-12.2013  0.798
2013 Park J, Al-Ramahi I, Tan Q, Mollema N, Diaz-Garcia JR, Gallego-Flores T, Lu HC, Lagalwar S, Duvick L, Kang H, Lee Y, Jafar-Nejad P, Sayegh LS, Richman R, Liu X, ... ... Zoghbi HY, et al. RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1. Nature. 498: 325-31. PMID 23719381 DOI: 10.1038/Nature12204  0.809
2013 Kahle JJ, Souroullas GP, Yu P, Zohren F, Lee Y, Shaw CA, Zoghbi HY, Goodell MA. Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery. Plos Genetics. 9: e1003359. PMID 23555280 DOI: 10.1371/Journal.Pgen.1003359  0.777
2013 Ebner BA, Ingram MA, Barnes JA, Duvick LA, Frisch JL, Clark HB, Zoghbi HY, Ebner TJ, Orr HT. Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 5806-20. PMID 23536093 DOI: 10.1523/Jneurosci.6311-11.2013  0.314
2013 Kim E, Lu HC, Zoghbi HY, Song JJ. Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua. Genes & Development. 27: 590-5. PMID 23512657 DOI: 10.1101/gad.212068.112  0.326
2013 Baker SA, Chen L, Wilkins AD, Yu P, Lichtarge O, Zoghbi HY. An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell. 152: 984-96. PMID 23452848 DOI: 10.1016/J.Cell.2013.01.038  0.626
2013 Han K, Gennarino VA, Lee Y, Pang K, Hashimoto-Torii K, Choufani S, Raju CS, Oldham MC, Weksberg R, Rakic P, Liu Z, Zoghbi HY. Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes & Development. 27: 485-90. PMID 23431031 DOI: 10.1101/Gad.207456.112  0.66
2013 Zoghbi HY. The basics of translation. Science (New York, N.Y.). 339: 250. PMID 23329019 DOI: 10.1126/science.1234799  0.313
2013 Samaco RC, McGraw CM, Ward CS, Sun Y, Neul JL, Zoghbi HY. Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. Human Molecular Genetics. 22: 96-109. PMID 23026749 DOI: 10.1093/hmg/dds406  0.81
2013 Opal P, Zoghbi H. The Hereditary Ataxias Emery and Rimoin's Principles and Practice of Medical Genetics. 1-32. DOI: 10.1016/B978-0-12-383834-6.00125-7  0.637
2012 Yang T, Ramocki MB, Neul JL, Lu W, Roberts L, Knight J, Ward CS, Zoghbi HY, Kheradmand F, Corry DB. Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses. Science Translational Medicine. 4: 163ra158. PMID 23220634 DOI: 10.1126/scitranslmed.3004430  0.788
2012 Katz DM, Berger-Sweeney JE, Eubanks JH, Justice MJ, Neul JL, Pozzo-Miller L, Blue ME, Christian D, Crawley JN, Giustetto M, Guy J, Howell CJ, Kron M, Nelson SB, Samaco RC, ... ... Zoghbi HY, et al. Preclinical research in Rett syndrome: setting the foundation for translational success. Disease Models & Mechanisms. 5: 733-45. PMID 23115203 DOI: 10.1242/Dmm.011007  0.783
2012 Huang WH, Tupal S, Huang TW, Ward CS, Neul JL, Klisch TJ, Gray PA, Zoghbi HY. Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood. Neuron. 75: 799-809. PMID 22958821 DOI: 10.1016/J.Neuron.2012.06.027  0.8
2012 Chao HT, Zoghbi HY. MeCP2: only 100% will do. Nature Neuroscience. 15: 176-7. PMID 22281712 DOI: 10.1038/Nn.3027  0.568
2012 Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harbor Perspectives in Biology. 4. PMID 22258914 DOI: 10.1101/cshperspect.a009886  0.371
2012 Samaco RC, Mandel-Brehm C, McGraw CM, Shaw CA, McGill BE, Zoghbi HY. Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nature Genetics. 44: 206-11. PMID 22231481 DOI: 10.1038/Ng.1066  0.771
2012 Chen YC, Gatchel JR, Lewis RW, Mao CA, Grant PA, Zoghbi HY, Dent SY. Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. Human Molecular Genetics. 21: 394-405. PMID 22002997 DOI: 10.1093/hmg/ddr474  0.707
2011 Fryer JD, Yu P, Kang H, Mandel-Brehm C, Carter AN, Crespo-Barreto J, Gao Y, Flora A, Shaw C, Orr HT, Zoghbi HY. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science (New York, N.Y.). 334: 690-3. PMID 22053053 DOI: 10.1126/Science.1212673  0.788
2011 Lee Y, Fryer JD, Kang H, Crespo-Barreto J, Bowman AB, Gao Y, Kahle JJ, Hong JS, Kheradmand F, Orr HT, Finegold MJ, Zoghbi HY. ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Developmental Cell. 21: 746-57. PMID 22014525 DOI: 10.1016/J.Devcel.2011.08.017  0.786
2011 Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, ... ... Zoghbi HY, et al. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nature Genetics. 43: 1074-81. PMID 21964572 DOI: 10.1038/ng.944  0.679
2011 Lai S, O'Callaghan B, Zoghbi HY, Orr HT. 14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus. The Journal of Biological Chemistry. 286: 34606-16. PMID 21835928 DOI: 10.1074/Jbc.A111.238527  0.349
2011 Lai HC, Klisch TJ, Roberts R, Zoghbi HY, Johnson JE. In vivo neuronal subtype-specific targets of Atoh1 (Math1) in dorsal spinal cord. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 10859-71. PMID 21795538 DOI: 10.1523/Jneurosci.0445-11.2011  0.694
2011 Schaaf CP, Zoghbi HY. Solving the autism puzzle a few pieces at a time. Neuron. 70: 806-8. PMID 21658575 DOI: 10.1016/j.neuron.2011.05.025  0.516
2011 Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY. Protein interactome reveals converging molecular pathways among autism disorders. Science Translational Medicine. 3: 86ra49. PMID 21653829 DOI: 10.1126/Scitranslmed.3002166  0.511
2011 McGraw CM, Samaco RC, Zoghbi HY. Adult neural function requires MeCP2. Science (New York, N.Y.). 333: 186. PMID 21636743 DOI: 10.1126/science.1206593  0.791
2011 Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Human Molecular Genetics. 20: 3366-75. PMID 21624971 DOI: 10.1093/Hmg/Ddr243  0.639
2011 Gehrking KM, Andresen JM, Duvick L, Lough J, Zoghbi HY, Orr HT. Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. Human Molecular Genetics. 20: 2204-12. PMID 21427130 DOI: 10.1093/Hmg/Ddr108  0.384
2011 Maricich SM, Aqeeb KA, Moayedi Y, Mathes EL, Patel MS, Chitayat D, Lyon G, Leroy JG, Zoghbi HY. Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. Journal of Child Neurology. 26: 288-94. PMID 21383226 DOI: 10.1177/0883073810380047  0.695
2011 Klisch TJ, Xi Y, Flora A, Wang L, Li W, Zoghbi HY. In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development. Proceedings of the National Academy of Sciences of the United States of America. 108: 3288-93. PMID 21300888 DOI: 10.1073/Pnas.1100230108  0.794
2011 Jafar-Nejad P, Ward CS, Richman R, Orr HT, Zoghbi HY. Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America. 108: 2142-7. PMID 21245341 DOI: 10.1073/Pnas.1018748108  0.767
2011 Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Barabási AL, Zoghbi HY. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Human Molecular Genetics. 20: 510-27. PMID 21078624 DOI: 10.1093/Hmg/Ddq496  0.795
2010 Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 468: 263-9. PMID 21068835 DOI: 10.1038/Nature09582  0.804
2010 Zoghbi HY, Warren ST. Neurogenetics: advancing the "next-generation" of brain research. Neuron. 68: 165-73. PMID 20955921 DOI: 10.1016/J.Neuron.2010.10.015  0.334
2010 Duvick L, Barnes J, Ebner B, Agrawal S, Andresen M, Lim J, Giesler GJ, Zoghbi HY, Orr HT. SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron. 67: 929-35. PMID 20869591 DOI: 10.1016/J.Neuron.2010.08.022  0.736
2010 Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. Plos Genetics. 6: e1001021. PMID 20628574 DOI: 10.1371/Journal.Pgen.1001021  0.816
2010 White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, Wakamiya M, Edwards SF, Raskin S, Teive HA, Zoghbi HY, Sarkar PS, Ashizawa T. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. Plos Genetics. 6: e1000984. PMID 20548952 DOI: 10.1371/Journal.Pgen.1000984  0.313
2009 Rose MF, Ahmad KA, Thaller C, Zoghbi HY. Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1. Proceedings of the National Academy of Sciences of the United States of America. 106: 22462-7. PMID 20080794 DOI: 10.1073/pnas.0911579106  0.634
2009 Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Annals of Neurology. 66: 771-82. PMID 20035514 DOI: 10.1002/Ana.21715  0.764
2009 Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proceedings of the National Academy of Sciences of the United States of America. 106: 21966-71. PMID 20007372 DOI: 10.1073/pnas.0912257106  0.811
2009 Flora A, Klisch TJ, Schuster G, Zoghbi HY. Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastoma. Science (New York, N.Y.). 326: 1424-7. PMID 19965762 DOI: 10.1126/Science.1181453  0.789
2009 Rose MF, Ren J, Ahmad KA, Chao HT, Klisch TJ, Flora A, Greer JJ, Zoghbi HY. Math1 is essential for the development of hindbrain neurons critical for perinatal breathing. Neuron. 64: 341-54. PMID 19914183 DOI: 10.1016/J.Neuron.2009.10.023  0.801
2009 Maricich SM, Xia A, Mathes EL, Wang VY, Oghalai JS, Fritzsch B, Zoghbi HY. Atoh1-lineal neurons are required for hearing and for the survival of neurons in the spiral ganglion and brainstem accessory auditory nuclei. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 11123-33. PMID 19741118 DOI: 10.1523/Jneurosci.2232-09.2009  0.745
2009 Maricich SM, Wellnitz SA, Nelson AM, Lesniak DR, Gerling GJ, Lumpkin EA, Zoghbi HY. Merkel cells are essential for light-touch responses. Science (New York, N.Y.). 324: 1580-2. PMID 19541997 DOI: 10.1126/Science.1172890  0.675
2009 Jorgensen ND, Andresen JM, Lagalwar S, Armstrong B, Stevens S, Byam CE, Duvick LA, Lai S, Jafar-Nejad P, Zoghbi HY, Clark HB, Orr HT. Phosphorylation of ATXN1 at Ser776 in the cerebellum. Journal of Neurochemistry. 110: 675-86. PMID 19500214 DOI: 10.1111/J.1471-4159.2009.06164.X  0.644
2009 Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Human Molecular Genetics. 18: 2431-42. PMID 19369296 DOI: 10.1093/Hmg/Ddp181  0.726
2009 Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, ... Zoghbi HY, et al. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Human Molecular Genetics. 18: 2188-203. PMID 19324899 DOI: 10.1093/Hmg/Ddp151  0.695
2009 Chao HT, Zoghbi HY. The yin and yang of MeCP2 phosphorylation. Proceedings of the National Academy of Sciences of the United States of America. 106: 4577-8. PMID 19293386 DOI: 10.1073/Pnas.0901518106  0.601
2009 Zoghbi HY. Rett syndrome: what do we know for sure? Nature Neuroscience. 12: 239-40. PMID 19238181 DOI: 10.1038/nn0309-239  0.413
2009 Miesegaes GR, Klisch TJ, Thaller C, Ahmad KA, Atkinson RC, Zoghbi HY. Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development. Developmental Biology. 327: 339-51. PMID 19135992 DOI: 10.1016/j.ydbio.2008.12.016  0.769
2009 Carlson KM, Melcher L, Lai S, Zoghbi HY, Clark HB, Orr HT. Characterization of the zebrafish atxn1/axh gene family. Journal of Neurogenetics. 23: 313-23. PMID 19085187 DOI: 10.1080/01677060802399976  0.334
2009 Zoghbi HY, Orr HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. The Journal of Biological Chemistry. 284: 7425-9. PMID 18957430 DOI: 10.1074/Jbc.R800041200  0.409
2009 Driver EC, Sillers L, Rose M, Zoghbi H, Kelley M. The Atoh1-expressing cell lineage develops into both hair cells and supporting cells Developmental Biology. 331: 509. DOI: 10.1016/J.Ydbio.2009.05.455  0.459
2008 Ramocki MB, Zoghbi HY. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature. 455: 912-8. PMID 18923513 DOI: 10.1038/nature07457  0.734
2008 Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY. Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. 59: 947-58. PMID 18817733 DOI: 10.1016/J.Neuron.2008.07.030  0.81
2008 Cukier HN, Perez AM, Collins AL, Zhou Z, Zoghbi HY, Botas J. Genetic modifiers of MeCP2 function in Drosophila. Plos Genetics. 4: e1000179. PMID 18773074 DOI: 10.1371/journal.pgen.1000179  0.813
2008 Lee Y, Samaco RC, Gatchel JR, Thaller C, Orr HT, Zoghbi HY. miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis. Nature Neuroscience. 11: 1137-9. PMID 18758459 DOI: 10.1038/Nn.2183  0.765
2008 Watase K, Barrett CF, Miyazaki T, Ishiguro T, Ishikawa K, Hu Y, Unno T, Sun Y, Kasai S, Watanabe M, Gomez CM, Mizusawa H, Tsien RW, Zoghbi HY. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proceedings of the National Academy of Sciences of the United States of America. 105: 11987-92. PMID 18687887 DOI: 10.1073/Pnas.0804350105  0.323
2008 Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (New York, N.Y.). 320: 1224-9. PMID 18511691 DOI: 10.1126/Science.1153252  0.728
2008 Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, Hill DE, Orr HT, Zoghbi HY. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 452: 713-8. PMID 18337722 DOI: 10.1038/Nature06731  0.799
2008 Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 70: 1313-21. PMID 18337588 DOI: 10.1212/01.wnl.0000291011.54508.aa  0.719
2008 Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Human Molecular Genetics. 17: 1718-27. PMID 18321864 DOI: 10.1093/Hmg/Ddn062  0.808
2008 Gatchel JR, Watase K, Thaller C, Carson JP, Jafar-Nejad P, Shaw C, Zu T, Orr HT, Zoghbi HY. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proceedings of the National Academy of Sciences of the United States of America. 105: 1291-6. PMID 18216249 DOI: 10.1073/Pnas.0711257105  0.788
2007 Al-Ramahi I, Pérez AM, Lim J, Zhang M, Sorensen R, de Haro M, Branco J, Pulst SM, Zoghbi HY, Botas J. dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. Plos Genetics. 3: e234. PMID 18166084 DOI: 10.1371/Journal.Pgen.0030234  0.746
2007 Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 56: 422-37. PMID 17988628 DOI: 10.1016/J.Neuron.2007.10.001  0.754
2007 Chao HT, Zoghbi HY, Rosenmund C. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 56: 58-65. PMID 17920015 DOI: 10.1016/J.Neuron.2007.08.018  0.685
2007 Flora A, Garcia JJ, Thaller C, Zoghbi HY. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proceedings of the National Academy of Sciences of the United States of America. 104: 15382-7. PMID 17878293 DOI: 10.1073/Pnas.0707456104  0.688
2007 Alvarez-Saavedra M, Sáez MA, Kang D, Zoghbi HY, Young JI. Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Human Molecular Genetics. 16: 2315-25. PMID 17635839 DOI: 10.1093/hmg/ddm185  0.447
2007 Shroyer NF, Helmrath MA, Wang VY, Antalffy B, Henning SJ, Zoghbi HY. Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis. Gastroenterology. 132: 2478-88. PMID 17570220 DOI: 10.1053/j.gastro.2007.03.047  0.5
2007 Cvetanovic M, Rooney RJ, Garcia JJ, Toporovskaya N, Zoghbi HY, Opal P. The role of LANP and ataxin 1 in E4F-mediated transcriptional repression. Embo Reports. 8: 671-7. PMID 17557114 DOI: 10.1038/Sj.Embor.7400983  0.796
2007 Jorgensen ND, Andresen JM, Pitt JE, Swenson MA, Zoghbi HY, Orr HT. Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1. Journal of Neurochemistry. 102: 2040-8. PMID 17540008 DOI: 10.1111/J.1471-4159.2007.04678.X  0.331
2007 Watase K, Gatchel JR, Sun Y, Emamian E, Atkinson R, Richman R, Mizusawa H, Orr HT, Shaw C, Zoghbi HY. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. Plos Medicine. 4: e182. PMID 17535104 DOI: 10.1371/Journal.Pmed.0040182  0.687
2007 Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annual Review of Neuroscience. 30: 575-621. PMID 17417937 DOI: 10.1146/Annurev.Neuro.29.051605.113042  0.398
2007 Bowman AB, Lam YC, Jafar-Nejad P, Chen HK, Richman R, Samaco RC, Fryer JD, Kahle JJ, Orr HT, Zoghbi HY. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nature Genetics. 39: 373-9. PMID 17322884 DOI: 10.1038/Ng1977  0.816
2006 Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 127: 1335-47. PMID 17190598 DOI: 10.1016/J.Cell.2006.11.038  0.809
2006 del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, ... ... Zoghbi HY, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 784-92. PMID 17172942 DOI: 10.1097/01.gim.0000250502.28516.3c  0.767
2006 Serra HG, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, Lysholm A, Burright E, Zoghbi HY, Clark HB, Andresen JM, Orr HT. RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell. 127: 697-708. PMID 17110330 DOI: 10.1016/J.Cell.2006.09.036  0.392
2006 McGill BE, Bundle SF, Yaylaoglu MB, Carson JP, Thaller C, Zoghbi HY. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. 103: 18267-72. PMID 17108082 DOI: 10.1073/pnas.0608702103  0.4
2006 Fryer JD, Zoghbi HY. Huntingtin's critical cleavage. Nature Neuroscience. 9: 1088-9. PMID 16936769 DOI: 10.1038/nn0906-1088  0.525
2006 Maricich SM, Zoghbi HY. Getting back to basics. Cell. 126: 11-5. PMID 16839867 DOI: 10.1016/j.cell.2006.06.029  0.677
2006 Al-Ramahi I, Lam YC, Chen HK, de Gouyon B, Zhang M, Pérez AM, Branco J, de Haro M, Patterson C, Zoghbi HY, Botas J. CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. The Journal of Biological Chemistry. 281: 26714-24. PMID 16831871 DOI: 10.1074/Jbc.M601603200  0.656
2006 Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 125: 801-14. PMID 16713569 DOI: 10.1016/J.Cell.2006.03.032  0.766
2006 Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Current Opinion in Genetics & Development. 16: 276-81. PMID 16647848 DOI: 10.1016/J.Gde.2006.04.009  0.583
2006 Helmlinger D, Hardy S, Abou-Sleymane G, Eberlin A, Bowman AB, Gansmüller A, Picaud S, Zoghbi HY, Trottier Y, Tora L, Devys D. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. Plos Biology. 4: e67. PMID 16494529 DOI: 10.1371/Journal.Pbio.0040067  0.556
2006 Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R, Antalffy B, Armstrong D, Arancio O, Sweatt JD, Zoghbi HY. Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 319-27. PMID 16399702 DOI: 10.1523/Jneurosci.2623-05.2006  0.536
2006 Young JI, Hong EP, Castle JC, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson JM, Berget S, Zoghbi HY. Erratum: Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2 (Proceedings of the National Academy of Sciences of the United States of America (December 6, 2005) 102, 49 (17551-17558) DOI: 10.1073/pnas.0507856102) Proceedings of the National Academy of Sciences of the United States of America. 103. DOI: 10.1073/Pnas.0511255103  0.772
2005 Zoghbi HY. SILencing misbehaving proteins. Nature Genetics. 37: 1302-3. PMID 16314860 DOI: 10.1038/ng1205-1302  0.346
2005 Young JI, Hong EP, Castle JC, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson JM, Berget S, Zoghbi HY. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proceedings of the National Academy of Sciences of the United States of America. 102: 17551-8. PMID 16251272 DOI: 10.1073/Pnas.0507856102  0.814
2005 Shroyer NF, Wallis D, Venken KJ, Bellen HJ, Zoghbi HY. Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. Genes & Development. 19: 2412-7. PMID 16230531 DOI: 10.1101/gad.1353905  0.523
2005 Zoghbi HY. MeCP2 dysfunction in humans and mice. Journal of Child Neurology. 20: 736-40. PMID 16225828 DOI: 10.1177/08830738050200090701  0.423
2005 Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nature Reviews. Genetics. 6: 743-55. PMID 16205714 DOI: 10.1038/nrg1691  0.688
2005 Wang VY, Rose MF, Zoghbi HY. Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron. 48: 31-43. PMID 16202707 DOI: 10.1016/j.neuron.2005.08.024  0.631
2005 Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, ... ... Zoghbi HY, et al. Towards a proteome-scale map of the human protein-protein interaction network. Nature. 437: 1173-8. PMID 16189514 DOI: 10.1038/Nature04209  0.692
2005 Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen HK, Rose MF, Venken KJ, Botas J, Orr HT, Bellen HJ, Zoghbi HY. The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell. 122: 633-44. PMID 16122429 DOI: 10.1016/J.Cell.2005.06.012  0.715
2005 Vierra-Green CA, Orr HT, Zoghbi HY, Ferrington DA. Identification of a novel phosphorylation site in ataxin-1. Biochimica Et Biophysica Acta. 1744: 11-8. PMID 15878393 DOI: 10.1016/J.Bbamcr.2004.10.012  0.306
2005 Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, et al. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 64: 1258-60. PMID 15824357 DOI: 10.1212/01.Wnl.0000156801.64549.6B  0.313
2005 Riley BE, Zoghbi HY, Orr HT. SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal. The Journal of Biological Chemistry. 280: 21942-8. PMID 15824120 DOI: 10.1074/Jbc.M501677200  0.329
2005 Kaytor MD, Byam CE, Tousey SK, Stevens SD, Zoghbi HY, Orr HT. A cell-based screen for modulators of ataxin-1 phosphorylation. Human Molecular Genetics. 14: 1095-105. PMID 15757972 DOI: 10.1093/Hmg/Ddi122  0.314
2005 Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. Journal of Medical Genetics. 42: e15. PMID 15689438 DOI: 10.1136/jmg.2004.026161  0.392
2005 Bowman AB, Yoo SY, Dantuma NP, Zoghbi HY. Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Human Molecular Genetics. 14: 679-91. PMID 15661755 DOI: 10.1093/hmg/ddi064  0.663
2005 Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Human Molecular Genetics. 14: 205-20. PMID 15548546 DOI: 10.1093/Hmg/Ddi016  0.556
2004 Zu T, Duvick LA, Kaytor MD, Berlinger MS, Zoghbi HY, Clark HB, Orr HT. Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 24: 8853-61. PMID 15470152 DOI: 10.1523/Jneurosci.2978-04.2004  0.376
2004 Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, David Sweatt J, Zoghbi HY. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Human Molecular Genetics. 13: 2679-89. PMID 15351775 DOI: 10.1093/Hmg/Ddh282  0.652
2004 Serra HG, Byam CE, Lande JD, Tousey SK, Zoghbi HY, Orr HT. Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Human Molecular Genetics. 13: 2535-43. PMID 15317756 DOI: 10.1093/Hmg/Ddh268  0.373
2004 Riley BE, Xu Y, Zoghbi HY, Orr HT. The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1Up. The Journal of Biological Chemistry. 279: 42290-301. PMID 15280365 DOI: 10.1074/Jbc.M406284200  0.309
2004 Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. American Journal of Human Genetics. 74: 1216-24. PMID 15127363 DOI: 10.1086/421526  0.327
2004 Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry. 10: 118-28. PMID 15070486 DOI: 10.1177/1073858403260995  0.75
2004 Opal P, Garcia JJ, McCall AE, Xu B, Weeber EJ, Sweatt JD, Orr HT, Zoghbi HY. Generation and characterization of LANP/pp32 null mice. Molecular and Cellular Biology. 24: 3140-9. PMID 15060138 DOI: 10.1128/Mcb.24.8.3140-3149.2004  0.689
2004 Young JI, Zoghbi HY. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. American Journal of Human Genetics. 74: 511-20. PMID 14973779 DOI: 10.1086/382228  0.397
2004 Xia H, Mao Q, Eliason SL, Kiewiet N, Critchfield J, Martins IH, Harper SQ, He X, Kotin RM, Zoghbi HY, Orr HT, Paulson HL, Davidson BL. 717. RNAi Therapy for Dominant Neurodegenerative Diseases Molecular Therapy. 9. DOI: 10.1016/J.Ymthe.2004.06.623  0.373
2003 Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science (New York, N.Y.). 302: 826-30. PMID 14593168 DOI: 10.1126/science.1089071  0.303
2003 Zoghbi HY. Molecular neuroscience: BAC-to-BAC images of the brain. Nature. 425: 907-8. PMID 14586449 DOI: 10.1038/425907a  0.306
2003 Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan RR. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Molecular Cell. 12: 425-35. PMID 14536082 DOI: 10.1016/S1097-2765(03)00276-4  0.607
2003 Watase K, Venken KJ, Sun Y, Orr HT, Zoghbi HY. Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Human Molecular Genetics. 12: 2789-95. PMID 12952864 DOI: 10.1093/Hmg/Ddg300  0.404
2003 Patterson MC, Zoghbi HY. Mental retardation: X marks the spot. Neurology. 61: 156-7. PMID 12874390 DOI: 10.1212/WNL.61.2.156  0.319
2003 Opal P, Garcia JJ, Propst F, Matilla A, Orr HT, Zoghbi HY. Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis. The Journal of Biological Chemistry. 278: 34691-9. PMID 12807913 DOI: 10.1074/Jbc.M302785200  0.689
2003 Cox PR, Fowler V, Xu B, Sweatt JD, Paylor R, Zoghbi HY. Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory. Molecular and Cellular Neurosciences. 23: 1-12. PMID 12799133 DOI: 10.1016/S1044-7431(03)00025-3  0.303
2003 Chen HK, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, Fernandez MH, Aitken A, Skoulakis EM, Orr HT, Botas J, Zoghbi HY. Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell. 113: 457-68. PMID 12757707 DOI: 10.1016/S0092-8674(03)00349-0  0.672
2003 Emamian ES, Kaytor MD, Duvick LA, Zu T, Tousey SK, Zoghbi HY, Clark HB, Orr HT. Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron. 38: 375-87. PMID 12741986 DOI: 10.1016/S0896-6273(03)00258-7  0.351
2003 Watase K, Zoghbi HY. Modelling brain diseases in mice: the challenges of design and analysis. Nature Reviews. Genetics. 4: 296-307. PMID 12671660 DOI: 10.1038/nrg1045  0.373
2003 Yoo SY, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, Armstrong DL, Wu SM, Sweatt JD, Zoghbi HY. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron. 37: 383-401. PMID 12575948 DOI: 10.1016/S0896-6273(02)01190-X  0.586
2003 Wallis D, Hamblen M, Zhou Y, Venken KJ, Schumacher A, Grimes HL, Zoghbi HY, Orkin SH, Bellen HJ. The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival. Development (Cambridge, England). 130: 221-32. PMID 12441305 DOI: 10.1242/Dev.00190  0.545
2002 Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Human Molecular Genetics. 11: 3237-48. PMID 12444108 DOI: 10.1093/Hmg/11.25.3237  0.333
2002 Shahbazian MD, Zoghbi HY. Rett syndrome and MeCP2: linking epigenetics and neuronal function. American Journal of Human Genetics. 71: 1259-72. PMID 12442230 DOI: 10.1086/345360  0.81
2002 Wang VY, Hassan BA, Bellen HJ, Zoghbi HY. Drosophila atonal fully rescues the phenotype of Math1 null mice: new functions evolve in new cellular contexts. Current Biology : Cb. 12: 1611-6. PMID 12372255 DOI: 10.1016/S0960-9822(02)01144-2  0.644
2002 Shahbazian MD, Sun Y, Zoghbi HY. Balanced X chromosome inactivation patterns in the Rett syndrome brain. American Journal of Medical Genetics. 111: 164-8. PMID 12210344 DOI: 10.1002/ajmg.10557  0.801
2002 Zoghbi HY, Botas J. Mouse and fly models of neurodegeneration. Trends in Genetics : Tig. 18: 463-71. PMID 12175807 DOI: 10.1016/S0168-9525(02)02729-4  0.347
2002 Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 35: 243-54. PMID 12160743 DOI: 10.1016/S0896-6273(02)00768-7  0.819
2002 Van den Veyver IB, Zoghbi HY. Genetic basis of Rett syndrome. Mental Retardation and Developmental Disabilities Research Reviews. 8: 82-6. PMID 12112732 DOI: 10.1002/mrdd.10025  0.373
2002 Watase K, Weeber EJ, Xu B, Antalffy B, Yuva-Paylor L, Hashimoto K, Kano M, Atkinson R, Sun Y, Armstrong DL, Sweatt JD, Orr HT, Paylor R, Zoghbi HY. A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 34: 905-19. PMID 12086639 DOI: 10.1016/S0896-6273(02)00733-X  0.438
2002 Opal P, Zoghbi HY. The role of chaperones in polyglutamine disease. Trends in Molecular Medicine. 8: 232-6. PMID 12067633 DOI: 10.1016/S1471-4914(02)02310-9  0.682
2002 Ueda H, Goto J, Hashida H, Lin X, Oyanagi K, Kawano H, Zoghbi HY, Kanazawa I, Okazawa H. Enhanced SUMOylation in polyglutamine diseases. Biochemical and Biophysical Research Communications. 293: 307-13. PMID 12054600 DOI: 10.1016/S0006-291X(02)00211-5  0.393
2002 Skinner PJ, Vierra-Green CA, Emamian E, Zoghbi HY, Orr HT. Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice. Neuromolecular Medicine. 1: 33-42. PMID 12025814 DOI: 10.1385/Nmm:1:1:33  0.404
2002 Gu Y, McIlwain KL, Weeber EJ, Yamagata T, Xu B, Antalffy BA, Reyes C, Yuva-Paylor L, Armstrong D, Zoghbi H, Sweatt JD, Paylor R, Nelson DL. Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 22: 2753-63. PMID 11923441 DOI: 10.1523/Jneurosci.22-07-02753.2002  0.352
2002 Matsuura T, Ranum LP, Volpini V, Pandolfo M, Sasaki H, Tashiro K, Watase K, Zoghbi HY, Ashizawa T. Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology. 58: 983-4. PMID 11914424 DOI: 10.1212/Wnl.58.6.983  0.354
2002 Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Human Molecular Genetics. 11: 115-24. PMID 11809720 DOI: 10.1093/Hmg/11.2.115  0.807
2001 Shahbazian MD, Orr HT, Zoghbi HY. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiology of Disease. 8: 974-81. PMID 11741393 DOI: 10.1006/Nbdi.2001.0444  0.803
2001 Van den Veyver IB, Zoghbi HY. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain & Development. 23: S147-51. PMID 11738862 DOI: 10.1016/S0387-7604(01)00376-X  0.376
2001 Cox PR, Siddique T, Zoghbi HY. Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4. Bmc Genomics. 2: 7. PMID 11716785 DOI: 10.1186/1471-2164-2-7  0.328
2001 Orr HT, Zoghbi HY. SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. Human Molecular Genetics. 10: 2307-11. PMID 11673415 DOI: 10.1093/Hmg/10.20.2307  0.381
2001 Skinner PJ, Vierra-Green CA, Clark HB, Zoghbi HY, Orr HT. Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice. The American Journal of Pathology. 159: 905-13. PMID 11549583 DOI: 10.1016/S0002-9440(10)61766-X  0.379
2001 Cummings CJ, Sun Y, Opal P, Antalffy B, Mestril R, Orr HT, Dillmann WH, Zoghbi HY. Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Human Molecular Genetics. 10: 1511-8. PMID 11448943 DOI: 10.1093/Hmg/10.14.1511  0.719
2001 Wang VY, Zoghbi HY. Genetic regulation of cerebellar development. Nature Reviews. Neuroscience. 2: 484-91. PMID 11433373 DOI: 10.1038/35081558  0.497
2001 Bermingham NA, Hassan BA, Wang VY, Fernandez M, Banfi S, Bellen HJ, Fritzsch B, Zoghbi HY. Proprioceptor pathway development is dependent on Math1. Neuron. 30: 411-22. PMID 11395003 DOI: 10.1016/S0896-6273(01)00305-1  0.627
2001 Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Current Opinion in Neurology. 14: 171-6. PMID 11262731 DOI: 10.1097/00019052-200104000-00006  0.804
2001 Yue S, Serra HG, Zoghbi HY, Orr HT. The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Human Molecular Genetics. 10: 25-30. PMID 11136710 DOI: 10.1093/Hmg/10.1.25  0.341
2001 Piedras-Renterı́a ES, Watase K, Harata N, Zhuchenko O, Zoghbi HY, Lee CC, Tsien RW. Increased Expression of α1A Ca2+Channel Currents Arising from Expanded Trinucleotide Repeats in Spinocerebellar Ataxia Type 6 The Journal of Neuroscience. 21: 9185-9193. DOI: 10.1523/Jneurosci.21-23-09185.2001  0.302
2000 Cummings CJ, Zoghbi HY. Trinucleotide repeats: mechanisms and pathophysiology. Annual Review of Genomics and Human Genetics. 1: 281-328. PMID 11701632 DOI: 10.1146/annurev.genom.1.1.281  0.345
2000 Amir RE, Zoghbi HY. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. American Journal of Medical Genetics. 97: 147-52. PMID 11180222 DOI: 10.1002/1096-8628(200022)97:2<147::AID-AJMG6>3.0.CO;2-O  0.39
2000 Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, Martinez P, Turiegano E, Benito J, Capovilla M, Skinner PJ, McCall A, Canal I, Orr HT, Zoghbi HY, Botas J. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature. 408: 101-6. PMID 11081516 DOI: 10.1038/35040584  0.416
2000 Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. American Journal of Human Genetics. 67: 1428-36. PMID 11055898 DOI: 10.1086/316913  0.327
2000 Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, ... Zoghbi HY, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nature Genetics. 26: 191-4. PMID 11017075 DOI: 10.1038/79911  0.305
2000 Davidson JD, Riley B, Burright EN, Duvick LA, Zoghbi HY, Orr HT. Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. Human Molecular Genetics. 9: 2305-12. PMID 11001934 DOI: 10.1093/Oxfordjournals.Hmg.A018922  0.354
2000 Heintz N, Zoghbi HY. Insights from mouse models into the molecular basis of neurodegeneration. Annual Review of Physiology. 62: 779-802. PMID 10845111 DOI: 10.1146/annurev.physiol.62.1.779  0.397
2000 Zoghbi HY, Orr HT. Glutamine repeats and neurodegeneration. Annual Review of Neuroscience. 23: 217-47. PMID 10845064 DOI: 10.1146/Annurev.Neuro.23.1.217  0.377
2000 Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Annals of Neurology. 47: 670-9. PMID 10805343 DOI: 10.1002/1531-8249(200005)47:5<670::Aid-Ana20>3.0.Co;2-F  0.341
2000 Orr HT, Zoghbi HY. Reversing neurodegeneration: a promise unfolds. Cell. 101: 1-4. PMID 10778849 DOI: 10.1016/S0092-8674(00)80617-0  0.405
2000 Hassan BA, Bermingham NA, He Y, Sun Y, Jan YN, Zoghbi HY, Bellen HJ. atonal regulates neurite arborization but does not act as a proneural gene in the Drosophila brain. Neuron. 25: 549-61. PMID 10774724 DOI: 10.1016/S0896-6273(00)81059-4  0.529
2000 Cummings CJ, Zoghbi HY. Fourteen and counting: unraveling trinucleotide repeat diseases. Human Molecular Genetics. 9: 909-16. PMID 10767314 DOI: 10.1093/Hmg/9.6.909  0.381
2000 Lorenzetti D, Watase K, Xu B, Matzuk MM, Orr HT, Zoghbi HY. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Human Molecular Genetics. 9: 779-85. PMID 10749985 DOI: 10.1093/Hmg/9.5.779  0.392
2000 Prakash SK, Paylor R, Jenna S, Lamarche-Vane N, Armstrong DL, Xu B, Mancini MA, Zoghbi HY. Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Human Molecular Genetics. 9: 477-88. PMID 10699171 DOI: 10.1093/Hmg/9.4.477  0.366
2000 Ben-Arie N, Hassan BA, Bermingham NA, Malicki DM, Armstrong D, Matzuk M, Bellen HJ, Zoghbi HY. Functional conservation of atonal and Math1 in the CNS and PNS. Development (Cambridge, England). 127: 1039-48. PMID 10662643  0.472
2000 Cox PR, Zoghbi HY. Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. Genomics. 63: 97-107. PMID 10662549 DOI: 10.1006/geno.1999.6061  0.324
2000 Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nature Neuroscience. 3: 157-63. PMID 10649571 DOI: 10.1038/72101  0.406
2000 Amir R, Dahle EJ, Toriolo D, Zoghbi HY. Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq. American Journal of Medical Genetics. 90: 69-71. PMID 10602120 DOI: 10.1002/(SICI)1096-8628(20000103)90:1<69::AID-AJMG12>3.0.CO;2-W  0.347
2000 Orr HT, Zoghbi HY. Modeling polyglutamine pathogenesis in mice: SCA1 Neurobiology of Aging. 21: 214. DOI: 10.1016/S0197-4580(00)83292-3  0.304
2000 Francke U, Wan M, Lee SSJ, Zhang X, Houwink-Manville I, Song H-, Amir RE, Budden S, Naidu S, Pereira JLP, Lo IFM, Zoghbi HY, Schanen NC. 28. Rett syndrome and beyond: recurrent spontaneous and familial mutations at CpG hotspots in the methyl-CpG binding protein-2 gene Biological Psychiatry. 47. DOI: 10.1016/S0006-3223(00)00286-9  0.323
1999 Cummings CJ, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, Orr HT, Beaudet AL, Zoghbi HY. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 24: 879-92. PMID 10624951 DOI: 10.1016/S0896-6273(00)81035-1  0.557
1999 Lin X, Cummings CJ, Zoghbi HY. Expanding our understanding of polyglutamine diseases through mouse models. Neuron. 24: 499-502. PMID 10595501 DOI: 10.1016/S0896-6273(00)81104-6  0.434
1999 Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. American Journal of Human Genetics. 65: 1520-9. PMID 10577905 DOI: 10.1086/302690  0.35
1999 Zoghbi HY, Orr HT. Polyglutamine diseases: protein cleavage and aggregation. Current Opinion in Neurobiology. 9: 566-70. PMID 10508741 DOI: 10.1016/S0959-4388(99)00013-6  0.374
1999 Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics. 23: 185-8. PMID 10508514 DOI: 10.1038/13810  0.37
1999 Cummings CJ, Orr HT, Zoghbi HY. Progress in pathogenesis studies of spinocerebellar ataxia type 1. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 354: 1079-81. PMID 10434309 DOI: 10.1098/Rstb.1999.0462  0.454
1999 Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 59: 77-84. PMID 10395802 DOI: 10.1006/Geno.1999.5844  0.339
1999 Bermingham NA, Hassan BA, Price SD, Vollrath MA, Ben-Arie N, Eatock RA, Bellen HJ, Lysakowski A, Zoghbi HY. Math1: an essential gene for the generation of inner ear hair cells. Science (New York, N.Y.). 284: 1837-41. PMID 10364557 DOI: 10.1126/Science.284.5421.1837  0.51
1999 Matsuura T, Achari M, Khajavi M, Bachinski LL, Zoghbi HY, Ashizawa T. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Annals of Neurology. 45: 407-11. PMID 10072060 DOI: 10.1002/1531-8249(199903)45:3<407::Aid-Ana21>3.0.Co;2-D  0.305
1999 Klement IA, Zoghbi HY, Orr HT. Pathogenesis of polyglutamine-induced disease: A model for SCA1. Molecular Genetics and Metabolism. 66: 172-8. PMID 10066385 DOI: 10.1006/Mgme.1999.2801  0.424
1999 Van den Veyver IB, Prakash S, Franco B, Zoghbi HY. Characterization of a novel candidate gene in Xp22.3 with homology to Drosophila ms13 Genetics in Medicine. 1: 48-48. DOI: 10.1097/00125817-199901000-00033  0.357
1998 Klement IA, Skinner PJ, Kaytor MD, Yi H, Hersch SM, Clark HB, Zoghbi HY, Orr HT. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell. 95: 41-53. PMID 9778246 DOI: 10.1016/S0092-8674(00)81781-X  0.372
1998 Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 51: 251-61. PMID 9722948 DOI: 10.1006/geno.1998.5350  0.347
1998 Van den Veyver IB, Subramanian S, Zoghbi HY. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. American Journal of Medical Genetics. 78: 179-81. PMID 9674913 DOI: 10.1002/(SICI)1096-8628(19980630)78:2<179::AID-AJMG17>3.0.CO;2-K  0.333
1998 Cummings CJ, Dahle EJ, Zoghbi HY. Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. American Journal of Medical Genetics. 78: 176-8. PMID 9674912 DOI: 10.1002/(SICI)1096-8628(19980630)78:2<176::AID-AJMG16>3.0.CO;2-K  0.341
1998 Narayanan V, Olinsky S, Dahle E, Naidu S, Zoghbi HY. Mutation analysis of the M6b gene in patients with Rett syndrome. American Journal of Medical Genetics. 78: 165-8. PMID 9674909 DOI: 10.1002/(SICI)1096-8628(19980630)78:2<165::AID-AJMG13>3.0.CO;2-L  0.326
1998 Matilla A, Roberson ED, Banfi S, Morales J, Armstrong DL, Burright EN, Orr HT, Sweatt JD, Zoghbi HY, Matzuk MM. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 18: 5508-16. PMID 9651231 DOI: 10.1523/Jneurosci.18-14-05508.1998  0.389
1997 Schaefer L, Prakash S, Zoghbi HY. Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Genomics. 46: 268-77. PMID 9417914 DOI: 10.1006/geno.1997.5040  0.322
1997 Zoghbi HY. CAG repeats in SCA6. Anticipating new clues. Neurology. 49: 1196-9. PMID 9371891 DOI: 10.1212/WNL.49.5.1196  0.408
1997 Ben-Arie N, Bellen HJ, Armstrong DL, McCall AE, Gordadze PR, Guo Q, Matzuk MM, Zoghbi HY. Math1 is essential for genesis of cerebellar granule neurons. Nature. 390: 169-72. PMID 9367153 DOI: 10.1038/36579  0.549
1997 Matilla A, Koshy BT, Cummings CJ, Isobe T, Orr HT, Zoghbi HY. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature. 389: 974-8. PMID 9353121 DOI: 10.1038/40159  0.414
1997 Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, Zoghbi HY, Orr HT. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature. 389: 971-4. PMID 9353120 DOI: 10.1038/40153  0.36
1997 Lorenzetti D, Bohlega S, Zoghbi HY. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology. 49: 1009-13. PMID 9339681 DOI: 10.1212/Wnl.49.4.1009  0.374
1997 Kaytor MD, Burright EN, Duvick LA, Zoghbi HY, Orr HT. Increased trinucleotide repeat instability with advanced maternal age. Human Molecular Genetics. 6: 2135-9. PMID 9328478 DOI: 10.1093/Hmg/6.12.2135  0.323
1997 Clark HB, Burright EN, Yunis WS, Larson S, Wilcox C, Hartman B, Matilla A, Zoghbi HY, Orr HT. Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 17: 7385-95. PMID 9295384 DOI: 10.1523/Jneurosci.17-19-07385.1997  0.403
1997 Koshy BT, Zoghbi HY. The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathology (Zurich, Switzerland). 7: 927-42. PMID 9217976 DOI: 10.1111/J.1750-3639.1997.Tb00894.X  0.418
1997 Burright EN, Davidson JD, Duvick LA, Koshy B, Zoghbi HY, Orr HT. Identification of a self-association region within the SCA1 gene product, ataxin-1. Human Molecular Genetics. 6: 513-8. PMID 9097953 DOI: 10.1093/Hmg/6.4.513  0.322
1997 Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nature Genetics. 15: 62-9. PMID 8988170 DOI: 10.1038/Ng0197-62  0.468
1996 Orr HT, Zoghbi HY. Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1. Cold Spring Harbor Symposia On Quantitative Biology. 61: 649-57. PMID 9246491 DOI: 10.1101/Sqb.1996.061.01.065  0.318
1996 Koshy B, Matilla T, Burright EN, Merry DE, Fischbeck KH, Orr HT, Zoghbi HY. Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Human Molecular Genetics. 5: 1311-8. PMID 8872471 DOI: 10.1093/Hmg/5.9.1311  0.389
1996 Ben-Arie N, McCall AE, Berkman S, Eichele G, Bellen HJ, Zoghbi HY. Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis. Human Molecular Genetics. 5: 1207-16. PMID 8872459 DOI: 10.1093/hmg/5.9.1207  0.544
1996 Banfi S, Servadio A, Chung M, Capozzoli F, Duvick LA, Elde R, Zoghbi HY, Orr HT. Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Human Molecular Genetics. 5: 33-40. PMID 8789437 DOI: 10.1093/Hmg/5.1.33  0.377
1996 Schaefer L, Ballabio A, Zoghbi HY. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 34: 166-72. PMID 8661044 DOI: 10.1006/Geno.1996.0261  0.322
1995 Servadio A, McCall A, Zoghbi H, Eicher EM. Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes Genomics. 29: 812-813. PMID 8575786 DOI: 10.1006/geno.1995.9925  0.338
1995 Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genetics. 10: 344-50. PMID 7670474 DOI: 10.1038/Ng0795-344  0.333
1995 Servadio A, Koshy B, Armstrong D, Antalffy B, Orr HT, Zoghbi HY. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genetics. 10: 94-8. PMID 7647801 DOI: 10.1038/Ng0595-94  0.356
1995 Zoghbi HY, Orr HT. Spinocerebellar ataxia type 1. Seminars in Cell Biology. 6: 29-35. PMID 7620119 DOI: 10.1016/1043-4682(95)90012-8  0.353
1995 Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Annals of Neurology. 38: 68-72. PMID 7611728 DOI: 10.1002/ana.410380113  0.362
1995 Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, Yunis WS, Duvick LA, Zoghbi HY, Orr HT. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 82: 937-48. PMID 7553854 DOI: 10.1016/0092-8674(95)90273-2  0.406
1994 Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hultén M, Gould C, Baldini A, Zoghbi HY. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. American Journal of Medical Genetics. 49: 229-34. PMID 8116674 DOI: 10.1002/ajmg.1320490214  0.343
1994 Banfi S, Servadio A, Chung MY, Kwiatkowski TJ, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genetics. 7: 513-20. PMID 7951322 DOI: 10.1038/Ng0894-513  0.325
1993 Friedmann M, Holth LT, Zoghbi HY, Reeves R. Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. Nucleic Acids Research. 21: 4259-67. PMID 8414980 DOI: 10.1093/Nar/21.18.4259  0.336
1993 Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genetics. 4: 221-6. PMID 8358429 DOI: 10.1038/Ng0793-221  0.519
1993 Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genetics. 5: 254-8. PMID 8275090 DOI: 10.1038/Ng1193-254  0.304
1992 Eng CM, Durtschi BA, Zoghbi HY, Beaudet AL. Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum. Genomics. 14: 813-5. PMID 1294119 DOI: 10.1016/S0888-7543(05)80196-X  0.453
1991 Eng CM, Kozak CA, Beaudet AL, Zoghbi HY. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics. 9: 278-82. PMID 2004777 DOI: 10.1016/0888-7543(91)90253-B  0.483
1991 Kwiatkowski TJ, Beaudet AL, Trask BJ, Zoghbi HY. Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. Genomics. 10: 921-6. PMID 1916824 DOI: 10.1016/0888-7543(91)90180-M  0.447
1991 Lupski JR, Garcia CA, Zoghbi HY, Hoffman EP, Fenwick RG. Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. American Journal of Medical Genetics. 40: 354-64. PMID 1683155 DOI: 10.1002/Ajmg.1320400323  0.305
1990 Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. A de novo X;3 translocation in Rett syndrome. American Journal of Medical Genetics. 35: 148-51. PMID 2301468 DOI: 10.1002/Ajmg.1320350131  0.311
1990 Zoghbi HY, Ballantyne CM, O'Brien WE, McCall AE, Kwiatkowski TJ, Ledbetter SA, Beaudet AL. Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6. Genomics. 6: 352-7. PMID 1968423 DOI: 10.1016/0888-7543(90)90576-G  0.451
1989 Zoghbi H. Genetic aspects of Rett syndrome. Journal of Child Neurology. S76-8. PMID 3058791 DOI: 10.1177/0883073888003001S15  0.302
1989 Zoghbi HY, Sandkuyl LA, Ott J, Daiger SP, Pollack M, O'Brien WE, Beaudet AL. Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. American Journal of Human Genetics. 44: 255-63. PMID 2563195  0.361
1988 Zoghbi HY, Pollack MS, Lyons LA, Ferrell RE, Daiger SP, Beaudet AL. Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Annals of Neurology. 23: 580-4. PMID 3165612 DOI: 10.1002/Ana.410230609  0.474
1988 Jellinger K, Armstrong D, Zoghbi HY, Percy AK. Neuropathology of Rett syndrome. Acta Neuropathologica. 76: 142-58. PMID 2900587 DOI: 10.1007/Bf00688098  0.353
1988 Zoghbi HY, Daiger SP, McCall A, O'Brien WE, Beaudet AL. Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA. American Journal of Human Genetics. 42: 877-83. PMID 2897163  0.376
1988 Ballantyne CM, Zoghbi HY, Grzeschik KH, O'Brien WE, Beaudet AL. A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q. Nucleic Acids Research. 16: 1650. PMID 2894640 DOI: 10.1093/Nar/16.4.1650  0.425
1988 Zoghbi H, Sandkuyl L, Ott J, Daiger S, Pollack M, O'Brien W, Beaudet A. Assignment of autosomal dominant spinocerebellar ataxia centromeric to HLA using multilocus linkage analysis Human Immunology. 23: 161. DOI: 10.1016/0198-8859(88)90297-2  0.452
1986 Zoghbi HY, Spence JE, Beaudet AL, O'Brien WE, Goodman CJ, Gibson KM. Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Annals of Neurology. 20: 367-9. PMID 3767322 DOI: 10.1002/ana.410200318  0.451
1985 Zoghbi HY, Okumura S, Laurent JP, Fishman MA. Acute effect of glycerol on net cerebrospinal fluid production in dogs. Journal of Neurosurgery. 63: 759-62. PMID 4056879 DOI: 10.3171/Jns.1985.63.5.0759  0.55
1985 Zoghbi HY, Percy AK, Glaze DG, Butler IJ, Riccardi VM. Reduction of biogenic amine levels in the Rett syndrome. The New England Journal of Medicine. 313: 921-4. PMID 2412119 DOI: 10.1056/NEJM198510103131504  0.308
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