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Research
General Information
ZIRC
ZFIN ID: ZDB-PERS-110606-11
Beggs, Alan H.
Email: beggs@enders.tch.harvard.edu
URL: http://www.childrenshospital.org/research/beggs
Affiliation: Beggs Lab
Address: Sir Edwin and Lady Manton Professor of Pediatrics, Harvard Medical School Director, The Manton Center for Orphan Disease Research Associate Chief for Research, Division of Genetics and Program in Genomics Children's Hospital Boston 300 Longwood Ave Boston, MA 02115 USA
Country: United States
Phone: 617-919-2170
Fax: 617-730-0786
Orcid ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
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
Cao, S., Smith, L.L., Padilla-Lopez, S.R., Guida, B.S., Blume, E., Shi, J., Morton, S.U., Brownstein, C.A., Beggs, A.H., Kruer, M.C., Agrawal, P.B. (2017) Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Human molecular genetics. 26:3545-3552
Widrick, J.J., Alexander, M., Sanchez, B., Gibbs, D., Kawahara, G., Beggs, A., Kunkel, L. (2016) Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiological Genomics. 48(11):850-860
Lawlor, M.W., Beggs, A.H., Buj-Bello, A., Childers, M.K., Dowling, J.J., James, E.S., Meng, H., Moore, S.A., Prasad, S., Schoser, B., Sewry, C.A. (2016) Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. Journal of neuropathology and experimental neurology. 75(2):102-10
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
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
Ravenscroft, G., Miyatake, S., Lehtokari, V.L., Todd, E.J., Vornanen, P., Yau, K.S., Hayashi, Y.K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., Yamashita, S., Ohya, T., Sakamoto, Y., Koshimizu, E., Imamura, S., Yamashita, M., Ogata, K., Shiina, M., Bryson-Richardson, R.J., Vaz, R., Ceyhan, O., Brownstein, C.A., Swanson, L.C., Monnot, S., Romero, N.B., Amthor, H., Kresoje, N., Sivadorai, P., Kiraly-Borri, C., Haliloglu, G., Talim, B., Orhan, D., Kale, G., Charles, A.K., Fabian, V.A., Davis, M.R., Lammens, M., Sewry, C.A., Manzur, A., Muntoni, F., Clarke, N.F., North, K.N., Bertini, E., Nevo, Y., Willichowski, E., Silberg, I.E., Topaloglu, H., Beggs, A.H., Allcock, R.J., Nishino, I., Wallgren-Pettersson, C., Matsumoto, N., and Laing, N.G. (2013) Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. American journal of human genetics. 93(1):6-18
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
Majczenko, K., Davidson, A.E., Camelo-Piragua, S., Agrawal, P.B., Manfready, R.A., Li, X., Joshi, S., Xu, J., Peng, W., Beggs, A.H., Li, J.Z., Burmeister, M., and Dowling, J.J. (2012) Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores. American journal of human genetics. 91(2):365-371
Boyden, S.E., Mahoney, L.J., Kawahara, G., Myers, J.A., Mitsuhashi, S., Estrella, E.A., Duncan, A.R., Dey, F., Dechene, E.T., Blasko-Goehringer, J.M., Bönnemann, C.G., Darras, B.T., Mendell, J.R., Lidov, H.G., Nishino, I., Beggs, A.H., Kunkel, L.M., and Kang, P.B. (2012) Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 13(2):115-124
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
Payne, E.M., Bolli, N., Rhodes, J., Abdel-Wahab, O.I., Levine, R., Hedvat, C.V., Stone, R., Khanna-Gupta, A., Sun, H., Kanki, J.P., Gazda, H.T., Beggs, A.H., Cotter, F.E., and Look, A.T. (2011) Ddx18 is essential for cell cycle progression in zebrafish hematopoietic cells and is mutated in human acute myeloid leukemia. Blood. 118(4):903-15
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