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Vandana Gupta - Publications

Affiliations: 
2007-2015 Genetics Harvard Medical School, Boston, MA, United States 
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32 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 Kim ES, Casey JG, Tao BS, Mansur A, Mathiyalagan N, Wallace ED, Ehrmann BM, Gupta VA. Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2. Disease Models & Mechanisms. PMID 37577943 DOI: 10.1242/dmm.050092  0.435
2023 Mansur A, Joseph R, Kim E, Jean-Beltran PM, Udeshi ND, Pearce C, Jiang H, Iwase R, Milev MP, Almousa HA, McNamara E, Widrick J, Perez C, Ravenscroft G, Sacher M, ... ... Gupta VA, et al. Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset. Elife. 12. PMID 37432316 DOI: 10.7554/eLife.81966  0.477
2023 Casey JG, Kim ES, Joseph R, Li F, Granzier H, Gupta VA. NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy. Human Molecular Genetics. PMID 36661122 DOI: 10.1093/hmg/ddad011  0.493
2022 Mao Q, Acharya A, Rodríguez-delaRosa A, Marchiano F, Dehapiot B, Al Tanoury Z, Rao J, Díaz-Cuadros M, Mansur A, Wagner E, Chardes C, Gupta V, Lenne PF, Habermann BH, Theodoly O, et al. Tension-driven multi-scale self-organisation in human iPSC-derived muscle fibers. Elife. 11. PMID 35920628 DOI: 10.7554/eLife.76649  0.358
2022 Chesshyre M, Ridout D, Hashimoto Y, Ookubo Y, Torelli S, Maresh K, Ricotti V, Abbott L, Gupta VA, Main M, Ferrari G, Kowala A, Lin YY, Tedesco FS, Scoto M, et al. Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle. PMID 35083887 DOI: 10.1002/jcsm.12914  0.369
2021 Al Tanoury Z, Zimmerman JF, Rao J, Sieiro D, McNamara HM, Cherrier T, Rodríguez-delaRosa A, Hick-Colin A, Bousson F, Fugier-Schmucker C, Marchiano F, Habermann B, Chal J, Nesmith AP, Gapon S, ... ... Gupta VA, et al. Prednisolone rescues Duchenne muscular dystrophy phenotypes in human pluripotent stem cell-derived skeletal muscle in vitro. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 34260377 DOI: 10.1073/pnas.2022960118  0.435
2021 Alexander MS, Hightower RM, Reid AL, Bennett AH, Iyer L, Slonim DK, Saha M, Kawahara G, Kunkel LM, Kopin AS, Gupta VA, Kang PB, Draper I. hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Muscle & Nerve. PMID 33651408 DOI: 10.1002/mus.27216  0.547
2020 Pellerin D, Aykanat A, Ellezam B, Troiano EC, Karamchandani J, Dicaire MJ, Petitclerc M, Robertson R, Allard-Chamard X, Brunet D, Konersman CG, Mathieu J, Warman Chardon J, Gupta VA, Beggs AH, et al. A Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Annals of Neurology. PMID 31970803 DOI: 10.1002/Ana.25685  0.603
2019 Jirka C, Pak JH, Grosgogeat CA, Marchetii MM, Gupta VA. Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy. Human Molecular Genetics. PMID 30986853 DOI: 10.1093/hmg/ddz078  0.445
2019 Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, ... ... Gupta VA, et al. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathologica. PMID 30701273 DOI: 10.1007/s00401-019-01963-8  0.506
2018 Pakula A, Lek A, Widrick J, Mitsuhashi H, Bugda Gwilt KM, Gupta VM, Rahimov F, Criscione J, Zhang Y, Gibbs D, Murphy Q, Manglik A, Mead L, Kunkel L. Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis. Human Molecular Genetics. PMID 30307508 DOI: 10.1093/Hmg/Ddy348  0.54
2018 Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM. An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. Plos One. 13: e0199712. PMID 29944715 DOI: 10.1371/Journal.Pone.0199712  0.53
2018 Bennett AH, O'Donohue MF, Gundry SR, Chan AT, Widrick J, Draper I, Chakraborty A, Zhou Y, Zon LI, Gleizes PE, Beggs AH, Gupta VA. RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes. Plos Genetics. 14: e1007226. PMID 29518074 DOI: 10.1371/Journal.Pgen.1007226  0.58
2017 Smith SJ, Wang JC, Gupta VA, Dowling JJ. A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy. Plos One. 12: e0172648. PMID 28241031 DOI: 10.1371/journal.pone.0172648  0.3
2016 de Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, et al. Mutation-specific effects on thin filament length in thin filament myopathy. Annals of Neurology. PMID 27074222 DOI: 10.1002/Ana.24654  0.628
2016 Shamseldin HE, Bennett AH, Alfadhel M, Gupta V, Alkuraya FS. GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. Human Genetics. PMID 26742501 DOI: 10.1007/s00439-015-1632-8  0.381
2015 Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS. Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Human Genetics. PMID 26541337 DOI: 10.1007/S00439-015-1608-8  0.341
2015 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... Gupta VA, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 125: 456-7. PMID 25654555 DOI: 10.1172/Jci80057  0.574
2014 Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, ... ... Gupta VA, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. The Journal of Clinical Investigation. 124: 4693-708. PMID 25250574 DOI: 10.1172/Jci75199  0.713
2014 Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). Human Molecular Genetics. 23: 6584-93. PMID 25055871 DOI: 10.1093/hmg/ddu384  0.5
2014 Gupta VA, Beggs AH. Kelch proteins: emerging roles in skeletal muscle development and diseases. Skeletal Muscle. 4: 11. PMID 24959344 DOI: 10.1186/2044-5040-4-11  0.637
2014 Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Human Molecular Genetics. 23: 5781-92. PMID 24925318 DOI: 10.1093/hmg/ddu296  0.529
2014 Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM, Gussoni E. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 28: 2955-69. PMID 24687993 DOI: 10.1096/fj.13-246470  0.615
2014 Smith LL, Gupta VA, Beggs AH. Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. Human Molecular Genetics. 23: 3566-78. PMID 24549043 DOI: 10.1093/Hmg/Ddu067  0.664
2013 Smith LL, Beggs AH, Gupta VA. Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays. Journal of Visualized Experiments : Jove. e50925. PMID 24378748 DOI: 10.3791/50925  0.632
2013 Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. American Journal of Human Genetics. 93: 1108-17. PMID 24268659 DOI: 10.1016/J.Ajhg.2013.10.020  0.642
2013 Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. Plos Genetics. 9: e1003583. PMID 23818870 DOI: 10.1371/Journal.Pgen.1003583  0.609
2012 Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American Journal of Human Genetics. 91: 541-7. PMID 22958903 DOI: 10.1016/J.Ajhg.2012.07.009  0.544
2012 Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH. A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. Plos One. 7: e43794. PMID 22952766 DOI: 10.1371/Journal.Pone.0043794  0.71
2012 Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E. Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. The American Journal of Pathology. 181: 961-8. PMID 22841819 DOI: 10.1016/J.Ajpath.2012.05.016  0.677
2012 Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH. α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 26: 1892-908. PMID 22253474 DOI: 10.1096/Fj.11-194548  0.608
2011 Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH. The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Human Molecular Genetics. 20: 1712-25. PMID 21296866 DOI: 10.1093/Hmg/Ddr047  0.706
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