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Al La Spada, MD PhD - Publications

Affiliations: 
1993-2009 University of Washington, Seattle, Seattle, WA 
 2009- Pediatrics University of California, San Diego, La Jolla, CA 
Area:
Polyglutamine disease mechanisms
Website:
https://profiles.ucsd.edu/albert.laspada
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59 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Bennett CL, Dastidar S, Arnold FJ, McKinstry SU, Stockford C, Freibaum BD, Sopher BL, Wu M, Seidner G, Joiner W, Taylor JP, West RJH, La Spada AR. Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity. Acta Neuropathologica Communications. 11: 164. PMID 37845749 DOI: 10.1186/s40478-023-01665-z  0.351
2023 Gromova A, Cha B, Robinson EM, Strickland LM, Nguyen N, ElMallah MK, Cortes CJ, La Spada AR. X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease. Acta Neuropathologica Communications. 11: 90. PMID 37269008 DOI: 10.1186/s40478-023-01582-1  0.362
2021 Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, ... ... La Spada AR, et al. Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. Science Advances. 7. PMID 34417184 DOI: 10.1126/sciadv.abi6896  0.561
2020 Zhu Q, Jiang J, Gendron TF, McAlonis-Downes M, Jiang L, Taylor A, Diaz Garcia S, Ghosh Dastidar S, Rodriguez MJ, King P, Zhang Y, La Spada AR, Xu H, Petrucelli L, Ravits J, et al. Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72. Nature Neuroscience. PMID 32284607 DOI: 10.1038/S41593-020-0619-5  0.31
2020 Gray AL, Annan L, Dick JRT, La Spada AR, Hanna MG, Greensmith L, Malik B. Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice. Disease Models & Mechanisms. PMID 32152060 DOI: 10.1242/Dmm.042424  0.327
2019 Malik B, Devine H, Patani R, La Spada AR, Hanna MG, Greensmith L. Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy. Scientific Reports. 9: 3539. PMID 30837566 DOI: 10.1038/S41598-019-40118-3  0.306
2019 Wenzel HJ, Murray KD, Haify SN, Hunsaker MR, Schwartzer JJ, Kim K, La Spada AR, Sopher BL, Hagerman PJ, Raske C, Severijnen LWFM, Willemsen R, Hukema RK, Berman RF. Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology. Acta Neuropathologica Communications. 7: 27. PMID 30808398 DOI: 10.1186/S40478-019-0677-7  0.302
2018 Cortes CJ, La Spada AR. TFEB dysregulation as a driver of autophagy dysfunction in neurodegenerative disease: Molecular mechanisms, cellular processes, and emerging therapeutic opportunities. Neurobiology of Disease. PMID 29852219 DOI: 10.1016/j.nbd.2018.05.012  0.335
2018 Bennett CL, Dastidar SG, Ling SC, Malik B, Ashe T, Wadhwa M, Miller DB, Lee C, Mitchell MB, van Es MA, Grunseich C, Chen Y, Sopher BL, Greensmith L, Cleveland DW, ... La Spada AR, et al. Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathologica. PMID 29725819 DOI: 10.1007/S00401-018-1852-9  0.307
2018 Badders NM, Korff A, Miranda HC, Vuppala PK, Smith RB, Winborn BJ, Quemin ER, Sopher BL, Dearman J, Messing J, Kim NC, Moore J, Freibaum BD, Kanagaraj AP, Fan B, ... ... La Spada AR, et al. Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy. Nature Medicine. PMID 29505030 DOI: 10.1038/Nm.4500  0.368
2018 Cortes CJ, La Spada AR. X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity. Advances in Experimental Medicine and Biology. 1049: 103-133. PMID 29427100 DOI: 10.1007/978-3-319-71779-1_5  0.361
2018 Stoyas CA, La Spada AR. The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology. Handbook of Clinical Neurology. 147: 143-170. PMID 29325609 DOI: 10.1016/B978-0-444-63233-3.00011-7  0.367
2016 Polanco MJ, Parodi S, Piol D, Stack C, Chivet M, Contestabile A, Miranda HC, Lievens PM, Espinoza S, Jochum T, Rocchi A, Grunseich C, Gainetdinov RR, Cato AC, Lieberman AP, ... La Spada AR, et al. Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy. Science Translational Medicine. 8: 370ra181. PMID 28003546 DOI: 10.1126/scitranslmed.aaf9526  0.662
2016 Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, ... ... La Spada AR, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 12: 1-222. PMID 26799652 DOI: 10.1080/15548627.2015.1100356  0.56
2015 Dickey AS, Pineda VV, Tsunemi T, Liu PP, Miranda HC, Gilmore-Hall SK, Lomas N, Sampat KR, Buttgereit A, Torres MM, Flores AL, Arreola M, Arbez N, Akimov SS, Gaasterland T, ... ... La Spada AR, et al. PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically. Nature Medicine. PMID 26642438 DOI: 10.1038/Nm.4003  0.362
2015 Todd TW, Kokubu H, Miranda HC, Cortes CJ, La Spada AR, Lim J. Nemo-like kinase is a novel regulator of spinal and bulbar muscular atrophy. Elife. 4. PMID 26308581 DOI: 10.7554/eLife.08493  0.362
2015 Guyenet SJ, Mookerjee SS, Lin A, Custer SK, Chen SF, Sopher BL, La Spada AR, Ellerby LM. Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction. Human Molecular Genetics. 24: 3908-17. PMID 25859008 DOI: 10.1093/Hmg/Ddv121  0.712
2015 Cortes CJ, La Spada AR. Autophagy in polyglutamine disease: Imposing order on disorder or contributing to the chaos? Molecular and Cellular Neurosciences. 66: 53-61. PMID 25771431 DOI: 10.1016/j.mcn.2015.03.010  0.343
2014 Cortes CJ, La Spada AR. Motor neuron degeneration in spinal and Bulbar Muscular Atrophy is a skeletal muscle-driven process: Relevance to therapy development and implications for related motor neuron diseases. Rare Diseases (Austin, Tex.). 2: e962402. PMID 26942099 DOI: 10.4161/2167549X.2014.962402  0.322
2014 Dubinsky AN, Dastidar SG, Hsu CL, Zahra R, Djakovic SN, Duarte S, Esau CC, Spencer B, Ashe TD, Fischer KM, MacKenna DA, Sopher BL, Masliah E, Gaasterland T, Chau BN, ... ... La Spada AR, et al. Let-7 coordinately suppresses components of the amino acid sensing pathway to repress mTORC1 and induce autophagy. Cell Metabolism. 20: 626-38. PMID 25295787 DOI: 10.1016/J.Cmet.2014.09.001  0.662
2014 Sekiyama K, Waragai M, Akatsu H, Sugama S, Takenouchi T, Takamatsu Y, Fujita M, Sekigawa A, Rockenstein E, Inoue S, La Spada AR, Masliah E, Hashimoto M. Disease-Modifying Effect of Adiponectin in Model of α-Synucleinopathies. Annals of Clinical and Translational Neurology. 1: 479-489. PMID 25126588 DOI: 10.1002/Acn3.77  0.302
2014 Cortes CJ, Miranda HC, Frankowski H, Batlevi Y, Young JE, Le A, Ivanov N, Sopher BL, Carromeu C, Muotri AR, Garden GA, La Spada AR. Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA. Nature Neuroscience. 17: 1180-9. PMID 25108912 DOI: 10.1038/Nn.3787  0.349
2014 McCormick MA, Mason AG, Guyenet SJ, Dang W, Garza RM, Ting MK, Moller RM, Berger SL, Kaeberlein M, Pillus L, La Spada AR, Kennedy BK. The SAGA histone deubiquitinase module controls yeast replicative lifespan via Sir2 interaction. Cell Reports. 8: 477-86. PMID 25043177 DOI: 10.1016/J.Celrep.2014.06.037  0.666
2014 Ramachandran PS, Boudreau RL, Schaefer KA, La Spada AR, Davidson BL. Nonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7. Molecular Therapy : the Journal of the American Society of Gene Therapy. 22: 1635-42. PMID 24930601 DOI: 10.1038/Mt.2014.108  0.302
2014 Montague K, Malik B, Gray AL, La Spada AR, Hanna MG, Szabadkai G, Greensmith L. Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy. Brain : a Journal of Neurology. 137: 1894-906. PMID 24898351 DOI: 10.1093/Brain/Awu114  0.306
2014 Lieberman AP, Yu Z, Murray S, Peralta R, Low A, Guo S, Yu XX, Cortes CJ, Bennett CF, Monia BP, La Spada AR, Hung G. Peripheral androgen receptor gene suppression rescues disease in mouse models of spinal and bulbar muscular atrophy. Cell Reports. 7: 774-84. PMID 24746732 DOI: 10.1016/j.celrep.2014.02.008  0.572
2014 Cortes CJ, La Spada AR. The many faces of autophagy dysfunction in Huntington's disease: from mechanism to therapy. Drug Discovery Today. 19: 963-71. PMID 24632005 DOI: 10.1016/j.drudis.2014.02.014  0.329
2013 Fujita K, Nakamura Y, Oka T, Ito H, Tamura T, Tagawa K, Sasabe T, Katsuta A, Motoki K, Shiwaku H, Sone M, Yoshida C, Katsuno M, Eishi Y, Murata M, ... ... La Spada AR, et al. A functional deficiency of TERA/VCP/p97 contributes to impaired DNA repair in multiple polyglutamine diseases. Nature Communications. 4: 1816. PMID 23652004 DOI: 10.1038/Ncomms2828  0.316
2013 Malik B, Nirmalananthan N, Gray AL, La Spada AR, Hanna MG, Greensmith L. Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy. Brain : a Journal of Neurology. 136: 926-43. PMID 23393146 DOI: 10.1093/Brain/Aws343  0.345
2013 Furrer SA, Waldherr SM, Mohanachandran MS, Baughn TD, Nguyen KT, Sopher BL, Damian VA, Garden GA, La Spada AR. Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7. Human Molecular Genetics. 22: 890-903. PMID 23197655 DOI: 10.1093/Hmg/Dds495  0.313
2012 Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, ... ... La Spada AR, et al. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy. 8: 445-544. PMID 22966490 DOI: 10.4161/Auto.19496  0.539
2012 La Spada AR. PPARGC1A/PGC-1α, TFEB and enhanced proteostasis in Huntington disease: defining regulatory linkages between energy production and protein-organelle quality control. Autophagy. 8: 1845-7. PMID 22932698 DOI: 10.4161/auto.21862  0.345
2012 Tsunemi T, La Spada AR. PGC-1α at the intersection of bioenergetics regulation and neuron function: from Huntington's disease to Parkinson's disease and beyond. Progress in Neurobiology. 97: 142-51. PMID 22100502 DOI: 10.1016/j.pneurobio.2011.10.004  0.33
2011 Furrer SA, Mohanachandran MS, Waldherr SM, Chang C, Damian VA, Sopher BL, Garden GA, La Spada AR. Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 16269-78. PMID 22072678 DOI: 10.1523/Jneurosci.4000-11.2011  0.329
2011 Wilburn B, Rudnicki DD, Zhao J, Weitz TM, Cheng Y, Gu X, Greiner E, Park CS, Wang N, Sopher BL, La Spada AR, Osmand A, Margolis RL, Sun YE, Yang XW. An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron. 70: 427-40. PMID 21555070 DOI: 10.1016/J.Neuron.2011.03.021  0.317
2010 Guyenet SJ, Furrer SA, Damian VM, Baughan TD, La Spada AR, Garden GA. A simple composite phenotype scoring system for evaluating mouse models of cerebellar ataxia. Journal of Visualized Experiments : Jove. PMID 20495529 DOI: 10.3791/1787  0.686
2010 La Spada AR, Taylor JP. Repeat expansion disease: progress and puzzles in disease pathogenesis. Nature Reviews. Genetics. 11: 247-58. PMID 20177426 DOI: 10.1038/Nrg2748  0.413
2009 Mookerjee S, Papanikolaou T, Guyenet SJ, Sampath V, Lin A, Vitelli C, DeGiacomo F, Sopher BL, Chen SF, La Spada AR, Ellerby LM. Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 15134-44. PMID 19955365 DOI: 10.1523/Jneurosci.4720-09.2009  0.696
2009 Young JE, Garden GA, Martinez RA, Tanaka F, Sandoval CM, Smith AC, Sopher BL, Lin A, Fischbeck KH, Ellerby LM, Morrison RS, Taylor JP, La Spada AR. Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 1987-97. PMID 19228953 DOI: 10.1523/Jneurosci.4072-08.2009  0.606
2008 Garden GA, La Spada AR. Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. Cerebellum (London, England). 7: 138-49. PMID 18418675 DOI: 10.1007/S12311-008-0027-Y  0.345
2007 Young JE, Gouw L, Propp S, Sopher BL, Taylor J, Lin A, Hermel E, Logvinova A, Chen SF, Chen S, Bredesen DE, Truant R, Ptacek LJ, La Spada AR, Ellerby LM. Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation. The Journal of Biological Chemistry. 282: 30150-60. PMID 17646170 DOI: 10.1074/Jbc.M705265200  0.394
2007 Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, Pennuto M. Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity. Human Molecular Genetics. 16: 1593-603. PMID 17470458 DOI: 10.1093/Hmg/Ddm109  0.713
2006 Custer SK, Garden GA, Gill N, Rueb U, Libby RT, Schultz C, Guyenet SJ, Deller T, Westrum LE, Sopher BL, La Spada AR. Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport. Nature Neuroscience. 9: 1302-11. PMID 16936724 DOI: 10.1038/Nn1750  0.683
2006 Thomas PS, Fraley GS, Damian V, Damien V, Woodke LB, Zapata F, Sopher BL, Plymate SR, La Spada AR. Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy. Human Molecular Genetics. 15: 2225-38. PMID 16772330 DOI: 10.1093/hmg/ddl148  0.384
2006 Taylor J, Grote SK, Xia J, Vandelft M, Graczyk J, Ellerby LM, La Spada AR, Truant R. Ataxin-7 can export from the nucleus via a conserved exportin-dependent signal. The Journal of Biological Chemistry. 281: 2730-9. PMID 16314424 DOI: 10.1074/Jbc.M506751200  0.379
2005 Bonini NM, La Spada AR. Silencing polyglutamine degeneration with RNAi. Neuron. 48: 715-8. PMID 16337909 DOI: 10.1016/j.neuron.2005.11.008  0.306
2004 Sopher BL, Thomas PS, LaFevre-Bernt MA, Holm IE, Wilke SA, Ware CB, Jin LW, Libby RT, Ellerby LM, La Spada AR. Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration. Neuron. 41: 687-99. PMID 15003169 DOI: 10.1016/S0896-6273(04)00082-0  0.685
2003 Grote SK, La Spada AR. Insights into the molecular basis of polyglutamine neurodegeneration from studies of a spinocerebellar ataxia type 7 mouse model. Cytogenetic and Genome Research. 100: 164-74. PMID 14526177 DOI: 10.1159/000072851  0.32
2003 La Spada AR, Taylor JP. Polyglutamines placed into context. Neuron. 38: 681-4. PMID 12797953 DOI: 10.1016/S0896-6273(03)00328-3  0.362
2001 La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, et al. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron. 31: 913-27. PMID 11580893 DOI: 10.1016/S0896-6273(01)00422-6  0.343
2000 Sopher BL, Myrick SB, Hong JY, Smith AC, La Spada AR. In vivo expansion of trinucleotide repeats yields plasmid and YAC constructs for targeting and transgenesis. Gene. 261: 383-90. PMID 11167027 DOI: 10.1016/S0378-1119(00)00508-4  0.315
1998 La Spada AR, Peterson KR, Meadows SA, McClain ME, Jeng G, Chmelar RS, Haugen HA, Chen K, Singer MJ, Moore D, Trask BJ, Fischbeck KH, Clegg CH, McKnight GS. Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. Human Molecular Genetics. 7: 959-67. PMID 9580659 DOI: 10.1093/hmg/7.6.959  0.522
1996 Spiegel R, La Spada AR, Kress W, Fischbeck KH, Schmid W. Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Human Mutation. 8: 32-7. PMID 8807333 DOI: 10.1002/(SICI)1098-1004(1996)8:1<32::AID-HUMU4>3.0.CO;2-R  0.525
1994 La Spada AR, Paulson HL, Fischbeck KH. Trinucleotide repeat expansion in neurological disease. Annals of Neurology. 36: 814-22. PMID 7998766 DOI: 10.1002/ana.410360604  0.658
1994 Danek A, Witt TN, Mann K, Schweikert HU, Romalo G, La Spada AR, Fischbeck KH. Decrease in androgen binding and effect of androgen treatment in a case of X-linked bulbospinal neuronopathy. The Clinical Investigator. 72: 892-7. PMID 7894219 DOI: 10.1007/BF00190748  0.488
1993 Roling DB, La Spada AR, Fischbeck KH. Kennedy's disease. Neurology. 43: 2424-5. PMID 8232979  0.475
1992 La Spada AR, Roling DB, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee WC, Fischbeck KH. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genetics. 2: 301-4. PMID 1303283 DOI: 10.1038/ng1292-301  0.531
1991 La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352: 77-9. PMID 2062380 DOI: 10.1038/352077a0  0.541
1991 Fischbeck KH, Souders D, La Spada A. A candidate gene for X-linked spinal muscular atrophy. Advances in Neurology. 56: 209-13. PMID 1853757  0.451
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