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Vandana Gupta, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Casey JG, Kim ES, Joseph R, Li F, Granzier H, Gupta VA. NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy. Hum Mol Genet. 2023 Jan 20. PMID: 36661122.
    Citations:    Fields:    
  2. 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, Baranello G, Manzur A, Aoki Y, Muntoni F. Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle. 2022 04; 13(2):1360-1372. PMID: 35083887; PMCID: PMC8977977.
    Citations: 1     Fields:    Translation:HumansAnimals
  3. Kotecha U, Mistri M, Shah N, Shah PS, Gupta VA. Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family. Clin Genet. 2021 12; 100(6):748-751. PMID: 34424553.
    Citations: 1     Fields:    Translation:Humans
  4. 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, Wagner E, Gupta VA, Bassel-Duby R, Olson EN, Cohen AE, Parker KK, Pourquié O. Prednisolone rescues Duchenne muscular dystrophy phenotypes in human pluripotent stem cell-derived skeletal muscle in vitro. Proc Natl Acad Sci U S A. 2021 07 13; 118(28). PMID: 34260377.
    Citations: 9     Fields:    Translation:HumansCells
  5. 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. 2021 06; 63(6):928-940. PMID: 33651408; PMCID: PMC8131270.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  6. 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, Brais B, Chrestian N. Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Ann Neurol. 2020 04; 87(4):568-583. PMID: 31970803.
    Citations: 3     Fields:    Translation:HumansAnimals
  7. Jirka C, Pak JH, Grosgogeat CA, Marchetii MM, Gupta VA. Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy. Hum Mol Genet. 2019 08 01; 28(15):2549-2560. PMID: 30986853.
    Citations: 8     Fields:    Translation:AnimalsCells
  8. Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, Estrella E, Darras BT, Frank NY, Krier J, Gaudet R, Gupta VA. Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis. Neurol Genet. 2019 Apr; 5(2):e312. PMID: 31041394; PMCID: PMC6454305.
    Citations: 5     
  9. 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, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol. 2019 03; 137(3):501-519. PMID: 30701273; PMCID: PMC6545377.
    Citations: 16     Fields:    Translation:HumansAnimals
  10. Pakula A, Lek A, Widrick J, Mitsuhashi H, Bugda Gwilt KM, Gupta VA, 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. Hum Mol Genet. 2019 01 15; 28(2):320-331. PMID: 30307508; PMCID: PMC6489409.
    Citations: 7     Fields:    Translation:Animals
  11. Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018; 3:21. PMID: 30131872; PMCID: PMC6089983.
    Citations: 6     
  12. 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. 2018; 13(6):e0199712. PMID: 29944715; PMCID: PMC6019105.
    Citations: 6     Fields:    Translation:Animals
  13. 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 Genet. 2018 03; 14(3):e1007226. PMID: 29518074.
    Citations: 13     Fields:    Translation:AnimalsCells
  14. 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. 2017; 12(2):e0172648. PMID: 28241031.
    Citations: 4     Fields:    Translation:Animals
  15. 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, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA. Mutation-specific effects on thin filament length in thin filament myopathy. Ann Neurol. 2016 06; 79(6):959-69. PMID: 27074222; PMCID: PMC4911820.
    Citations: 29     Fields:    Translation:HumansAnimalsCells
  16. 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. Hum Genet. 2016 Feb; 135(2):245-251. PMID: 26742501; PMCID: PMC4975006.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  17. 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. Hum Genet. 2016 Jan; 135(1):21-30. PMID: 26541337; PMCID: PMC4900140.
    Citations: 15     Fields:    Translation:HumansAnimals
  18. 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, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2015 Jan; 125(1):456-7. PMID: 25654555; PMCID: PMC4382254.
    Citations: 12     Fields:    
  19. 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, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2014 Nov; 124(11):4693-708. PMID: 25250574; PMCID: PMC4347224.
    Citations: 75     Fields:    Translation:HumansAnimalsCells
  20. Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). Hum Mol Genet. 2014 Dec 15; 23(24):6584-93. PMID: 25055871.
    Citations: 12     Fields:    Translation:HumansAnimalsCells
  21. 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. Hum Mol Genet. 2014 Nov 01; 23(21):5781-92. PMID: 24925318.
    Citations: 24     Fields:    Translation:HumansAnimalsCells
  22. Gupta VA, Beggs AH. Kelch proteins: emerging roles in skeletal muscle development and diseases. Skelet Muscle. 2014; 4:11. PMID: 24959344.
    Citations: 55     Fields:    
  23. 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 J. 2014 Jul; 28(7):2955-69. PMID: 24687993.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  24. Smith LL, Gupta VA, Beggs AH. Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. Hum Mol Genet. 2014 Jul 01; 23(13):3566-78. PMID: 24549043.
    Citations: 17     Fields:    Translation:Animals
  25. Smith LL, Beggs AH, Gupta VA. Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays. J Vis Exp. 2013 Dec 13; (82):e50925. PMID: 24378748.
    Citations: 37     Fields:    Translation:Animals
  26. 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, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 05; 93(6):1108-17. PMID: 24268659; PMCID: PMC3852928.
    Citations: 69     Fields:    Translation:HumansAnimalsCells
  27. 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 Genet. 2013 Jun; 9(6):e1003583. PMID: 23818870.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  28. Zhao M, Gupta V, Raj L, Roussel M, Bei M. A network of transcription factors operates during early tooth morphogenesis. Mol Cell Biol. 2013 Aug; 33(16):3099-112. PMID: 23754753.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  29. 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, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 07; 91(3):541-7. PMID: 22958903; PMCID: PMC3512000.
    Citations: 77     Fields:    Translation:Humans
  30. 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-a2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. PLoS One. 2012; 7(8):e43794. PMID: 22952766.
    Citations: 18     Fields:    Translation:HumansAnimalsCells
  31. 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. Am J Pathol. 2012 Sep; 181(3):961-8. PMID: 22841819; PMCID: PMC3432426.
    Citations: 24     Fields:    Translation:HumansAnimalsCells
  32. Gupta V, Discenza M, Guyon JR, Kunkel LM, Beggs AH. a-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by a-actinin-3 revealing functional differences between sarcomeric isoforms. FASEB J. 2012 May; 26(5):1892-908. PMID: 22253474.
    Citations: 23     Fields:    Translation:HumansAnimalsCells
  33. 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. Hum Mol Genet. 2011 May 01; 20(9):1712-25. PMID: 21296866.
    Citations: 55     Fields:    Translation:HumansAnimalsCells
  34. Tran TT, Segev DL, Gupta V, Kawakubo H, Yeo G, Donahoe PK, Maheswaran S. Mullerian inhibiting substance regulates androgen-induced gene expression and growth in prostate cancer cells through a nuclear factor-kappaB-dependent Smad-independent mechanism. Mol Endocrinol. 2006 Oct; 20(10):2382-91. PMID: 16740653.
    Citations: 6     Fields:    Translation:HumansCells
  35. Gupta V, Bei M. Modification of Msx1 by SUMO-1. Biochem Biophys Res Commun. 2006 Jun 23; 345(1):74-7. PMID: 16678795.
    Citations: 10     Fields:    Translation:AnimalsCells
  36. Kawakubo H, Carey JL, Brachtel E, Gupta V, Green JE, Walden PD, Maheswaran S. Expression of the NF-kappaB-responsive gene BTG2 is aberrantly regulated in breast cancer. Oncogene. 2004 Oct 28; 23(50):8310-9. PMID: 15378000.
    Citations: 34     Fields:    Translation:HumansAnimals
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