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Research
General Information
ZIRC
ZFIN ID: ZDB-PERS-110629-4
Gupta, Vandana A
Email: vgupta@research.bwh.harvard.edu
URL: http://guptalab.bwh.harvard.edu/
Affiliation:
Address: Assistant Professor of Medicine, Division of Genetics, Brigham and Women's Hospital, NRB 168A 77 Avenue Louis Pasteur, Boston, MA 02115
Country:
Phone: 617-525-4452
Fax:
Orcid ID:


BIOGRAPHY AND RESEARCH INTERESTS
Neuromuscular diseases, protein biosynthesis and degradation processes regulating skeletal muscle development, genetic diseases


PUBLICATIONS
Lornage, X., Romero, N.B., Grosgogeat, C.A., Malfatti, E., Donkervoort, S., Marchetti, M.M., Neuhaus, S.B., Foley, A.R., Labasse, C., Schneider, R., Carlier, R.Y., Chao, K.R., Medne, L., Deleuze, J.F., Orlikowski, D., Bönnemann, C.G., Gupta, V.A., Fardeau, M., Böhm, J., Laporte, J. (2019) ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathologica. 137(3):501-519
Pakula, A., Lek, A., Widrick, J., Mitsuhashi, H., Bugda Gwilt, K.M., Gupta, V.M., Rahimov, F., Criscione, J., Zhang, Y., Gibbs, D., Murphy, Q., Manglik, A., Mead, L., Kunkel, L. (2018) Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis. Human molecular genetics. 28(2):320-331
Widrick, J.J., Gibbs, D.E., Sanchez, B., Gupta, V.A., Pakula, A., Lawrence, C., Beggs, A.H., Kunkel, L.M. (2018) An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. PLoS One. 13:e0199712
Bennett, A.H., O'Donohue, M.F., Gundry, S.R., Chan, A.T., Widrick, J., Draper, I., Chakraborty, A., Zhou, Y., Zon, L.I., Gleizes, P.E., Beggs, A.H., Gupta, V.A. (2018) RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes. PLoS Genetics. 14:e1007226
Smith, S.J., Wang, J.C., Gupta, V.A., Dowling, J.J. (2017) A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy. PLoS One. 12:e0172648
Shamseldin, H.E., Bennett, A.H., Alfadhel, M., Gupta, V., Alkuraya, F.S. (2016) GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. Human genetics. 135(2):245-51
Shamseldin, H.E., Smith, L.L., Kentab, A., Alkhalidi, H., Summers, B., Alsedairy, H., Xiong, Y., Gupta, V.A., Alkuraya, F.S. (2016) Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Human genetics. 135(1):21-30
Patel, N., Smith, L.L., Faqeih, E., Mohamed, J., Gupta, V.A., Alkuraya, F.S. (2014) ZBTB42 Mutation Defines A Novel Lethal Congenital Contracture Syndrome (LCCS6). Human molecular genetics. 23(24):6584-93
DiCostanzo, S., Balasubramanian, A., Pond, H.L., Rozkalne, A., Pantaleoni, C., Saredi, S., Gupta, V.A., Sunu, C.M., Yu, T.W., Kang, P.B., Salih, M.A., Mora, M., Gussoni, E., Walsh, C.A., Manzini, M.C. (2014) POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Human molecular genetics. 23(21):5781-92
Yuen, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari, V.L., Ravenscroft, G., Todd, E.J., Ceyhan-Birsoy, O., Gokhin, D.S., Maluenda, J., Lek, M., Nolent, F., Pappas, C.T., Novak, S.M., D'Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J., Ilkovski, B., Houweling, P.J., Davidson, A.E., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, L., Shannon, P., Martin, N., Bick, D.P., Flisberg, A., Holmberg, E., Van den Bergh, P., Lapunzina, P., Waddell, L.B., Sloboda, D.D., Bertini, E., Chitayat, D., Telfer, W.R., Laquerrière, A., Gregorio, C.C., Ottenheijm, C.A., Bönnemann, C.G., Pelin, K., Beggs, A.H., Hayashi, Y.K., Romero, N.B., Laing, N.G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V.M., MacArthur, D.G., North, K.N., Clarke, N.F. (2014) Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J. Clin. Invest.. 124(11):4693-708
Balasubramanian, A., Kawahara, G., Gupta, V.A., Rozkalne, A., Beauvais, A., Kunkel, L.M., Gussoni, E. (2014) 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(7):2955-2969
Smith, L.L., Beggs, A.H., and Gupta, V.A. (2013) Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays. Journal of visualized experiments : JoVE. (82):e50925
Gupta, V.A., Ravenscroft, G., Shaheen, R., Todd, E.J., Swanson, L.C., Shiina, M., Ogata, K., Hsu, C., Clarke, N.F., Darras, B.T., Farrar, M.A., Hashem, A., Manton, N.D., Muntoni, F., North, K.N., Sandaradura, S.A., Nishino, I., Hayashi, Y.K., Sewry, C.A., Thompson, E.M., Yau, K.S., Brownstein, C.A., Yu, T.W., Allcock, R.J., Davis, M.R., Wallgren-Pettersson, C., Matsumoto, N., Alkuraya, F.S., Laing, N.G., and Beggs, A.H. (2013) 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(6):1108-1117
Gupta, V.A., Hnia, K., Smith, L.L., Gundry, S.R., McIntire, J.E., Shimazu, J., Bass, J.R., Talbot, E.A., Amoasii, L., Goldman, N.E., Laporte, J., and Beggs, A.H. (2013) Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish. PLoS Genetics. 9(6):e1003583
Manzini, M.C., Tambunan, D.E., Hill, R.S., Yu, T.W., Maynard, T.M., Heinzen, E.L., Shianna, K.V., Stevens, C.R., Partlow, J.N., Barry, B.J., Rodriguez, J., Gupta, V.A., Al-Qudah, A.K., Eyaid, W.M., Friedman, J.M., Salih, M.A., Clark, R., Moroni, I., Mora, M., Beggs, A.H., Gabriel, S.B., and Walsh, C.A. (2012) Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome. American journal of human genetics. 91(3):541-547
Gupta, V., Discenza, M., Guyon, J.R., Kunkel, L.M., and Beggs, A.H. (2012) 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(5):1892-1908
Gupta, V.A., Kawahara, G., Myers, J.A., Chen, A.T., Hall, T.E., Manzini, M.C., Currie, P.D., Zhou, Y., Zon, L.I., Kunkel, L.M., and Beggs, A.H. (2012) A Splice Site Mutation in Laminin-alpha2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish. PLoS One. 7(8):e43794
Gupta, V., Kawahara, G., Gundry, S.R., Chen, A.T., Lencer, W.I., Zhou, Y., Zon, L.I., Kunkel, L.M., and Beggs, A.H. (2011) The zebrafish dag1 mutant: A novel genetic model for dystroglycanopathies. Human molecular genetics. 20(9):1712-25

NON-ZEBRAFISH PUBLICATIONS