ZFIN ID: ZDB-LAB-131009-1
Kunkel Lab
PI/Director: Kunkel, Louis M.
Contact Person: Thorne, Marielle
Email: thorne@enders.tch.harvard.edu
URL: http://www.childrenshospital.org/research-and-innovation/research-labs/kunkel-laboratory
Address: Boston Children’s Hospital 3 Blackfan Circle CLS15030.5 Boston, MA 02115
Country: United States
Phone: 1-617-355-7576
Fax:
Line Designation: cl


GENOMIC FEATURES ORIGINATING FROM THIS LAB
Show all 3 genomic features


STATEMENT OF RESEARCH INTERESTS
Characterization of muscular dystrophies
Identification and characterization of signaling pathways of muscular dystrophies
Generation of novel zebrafish muscle transgenic and mutant lines to model human muscle diseases
Use of zebrafish for screening novel drug compounds for the treatment of muscle diseases.


LAB MEMBERS
Lek, Angela Post-Doc Marshall, Jamie Post-Doc Vieira, Natássia Post-Doc
Gasperini, Molly Technical Staff Thorne, Marielle Administrative Staff Bennett, Richard
Estrella, Elicia Kawahara, Genri Lidov, Hart
Rahimov, Fedk Widrick, Jeffrey


ZEBRAFISH PUBLICATIONS OF LAB MEMBERS
Lek, A., Zhang, Y., Woodman, K.G., Huang, S., DeSimone, A.M., Cohen, J., Ho, V., Conner, J., Mead, L., Kodani, A., Pakula, A., Sanjana, N., King, O.D., Jones, P.L., Wagner, K.R., Lek, M., Kunkel, L.M. (2020) Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Science Translational Medicine. 12(536):
Ono, H., Suzuki, N., Kanno, S.I., Kawahara, G., Izumi, R., Takahashi, T., Kitajima, Y., Osana, S., Nakamura, N., Akiyama, T., Ikeda, K., Shijo, T., Mitsuzawa, S., Nagatomi, R., Araki, N., Yasui, A., Warita, H., Hayashi, Y.K., Miyake, K., Aoki, M. (2020) AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy. Molecular therapy : the journal of the American Society of Gene Therapy. 28(4):1133-1153
Hightower, R.M., Reid, A.L., Gibbs, D.E., Wang, Y., Widrick, J.J., Kunkel, L.M., Kastenschmidt, J.M., Villalta, S.A., van Groen, T., Chang, H., Gornisiewicz, S., Landesman, Y., Tamir, S., Alexander, M.S. (2019) The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice. Molecular therapy : the journal of the American Society of Gene Therapy. 28(1):189-201
Widrick, J.J., Kawahara, G., Alexander, M.S., Beggs, A.H., Kunkel, L.M. (2019) Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. Journal of neuromuscular diseases. 6(3):271-287
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
Serafini, P.R., Feyder, M.J., Hightower, R.M., Garcia-Perez, D., Vieira, N.M., Lek, A., Gibbs, D.E., Moukha-Chafiq, O., Augelli-Szafran, C.E., Kawahara, G., Widrick, J.J., Kunkel, L.M., Alexander, M.S. (2018) A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. JCI insight. 3(18):
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
Vieira, N.M., Spinazzola, J.M., Alexander, M.S., Moreira, Y.B., Kawahara, G., Gibbs, D.E., Mead, L.C., Verjovski-Almeida, S., Zatz, M., Kunkel, L.M. (2017) Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America. 114(23):6080-6085
Shaw, N.D., Brand, H., Kupchinsky, Z.A., Bengani, H., Plummer, L., Jones, T.I., Erdin, S., Williamson, K.A., Rainger, J., Stortchevoi, A., Samocha, K., Currall, B.B., Dunican, D.S., Collins, R.L., Willer, J.R., Lek, A., Lek, M., Nassan, M., Pereira, S., Kammin, T., Lucente, D., Silva, A., Seabra, C.M., Chiang, C., An, Y., Ansari, M., Rainger, J.K., Joss, S., Smith, J.C., Lippincott, M.F., Singh, S.S., Patel, N., Jing, J.W., Law, J.R., Ferraro, N., Verloes, A., Rauch, A., Steindl, K., Zweier, M., Scheer, I., Sato, D., Okamoto, N., Jacobsen, C., Tryggestad, J., Chernausek, S., Schimmenti, L.A., Brasseur, B., Cesaretti, C., García-Ortiz, J.E., Buitrago, T.P., Silva, O.P., Hoffman, J.D., Mühlbauer, W., Ruprecht, K.W., Loeys, B.L., Shino, M., Kaindl, A.M., Cho, C.H., Morton, C.C., Meehan, R.R., van Heyningen, V., Liao, E.C., Balasubramanian, R., Hall, J.E., Seminara, S.B., Macarthur, D., Moore, S.A., Yoshiura, K.I., Gusella, J.F., Marsh, J.A., Graham, J.M., Lin, A.E., Katsanis, N., Jones, P.L., Crowley, W.F., Davis, E.E., FitzPatrick, D.R., Talkowski, M.E. (2017) SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics. 49(2):238-248
Kawahara, G., Maeda, H., Kikura-Hanajiri, R., Yoshida, K.I., Hayashi, Y.K. (2017) The psychoactive drug 25B-NBOMe recapitulates rhabdomyolysis in zebrafish larvae. Forensic toxicology. 35:369-375
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
Kawahara, G., Hayashi, Y.K. (2016) Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome. PLoS One. 11:e0165563
Mallick, E.M., Bergeron, A.C., Jones, S.K., Newman, Z.R., Brothers, K.M., Creton, R., Wheeler, R.T., Bennett, R.J. (2016) Phenotypic Plasticity Regulates Candida albicans Interactions and Virulence in the Vertebrate Host. Frontiers in microbiology. 7:780
Vieira, N.M., Elvers, I., Alexander, M.S., Moreira, Y.B., Eran, A., Gomes, J.P., Marshall, J.L., Karlsson, E.K., Verjovski-Almeida, S., Lindblad-Toh, K., Kunkel, L.M., Zatz, M. (2015) Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 163:1204-13
Vieira, N.M., Naslavsky, M.S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., Sanchez, N., Kitajima, J.P., Gal, L., Cavaçana, N., Serafini, P.R., Chuartzman, S., Vasquez, C., Mimbacas, A., Nigro, V., Pavanello, R.C., Schuldiner, M., Kunkel, L.M., Zatz, M. (2014) A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Human molecular genetics. 23(15):4103-10
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
Kawahara, G., Gasperini, M.J., Myers, J.A., Widrick, J.J., Eran, A., Serafini, P.R., Alexander, M.S., Pletcher, M.T., Morris, C.A., and Kunkel, L.M. (2014) Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Human molecular genetics. 23(7):1869-78
Alexander, M.S., Kawahara, G., Motohashi, N., Casar, J.C., Eisenberg, I., Myers, J.A., Gasperini, M.J., Estrella, E.A., Kho, A.T., Mitsuhashi, S., Shapiro, F., Kang, P.B., and Kunkel, L.M. (2013) MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation. Cell death and differentiation. 20(9):1194-208
Mitsuhashi, H., Mitsuhashi, S., Lynn-Jones, T., Kawahara, G., and Kunkel, L.M. (2013) Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Human molecular genetics. 22(3):268-277
Kawahara, G., and Kunkel, L.M. (2013) Zebrafish based small molecule screens for novel DMD drugs. Drug Discovery Today: Technologies. 10(1):e91-e96
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
Kawahara, G., Serafini, P.R., Myers, J.A., Alexander, M.S., and Kunkel, L.M. (2011) Characterization of zebrafish dysferlin by morpholino knockdown. Biochemical and Biophysical Research Communications. 413(2):358-63
Alexander, M.S., Kawahara, G., Kho, A.T., Howell, M.H., Pusack, T.J., Myers, J.A., Montanaro, F., Zon, L.I., Guyon, J.R., and Kunkel, L.M. (2011) Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors. Muscle & nerve. 43(5):741-750
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
Kawahara, G., Karpf, J.A., Myers, J.A., Alexander, M.S., Guyon, J.R., and Kunkel, L.M. (2011) Drug screening in a zebrafish model of Duchenne muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America. 108(13):5331-6
Kawahara, G., Guyon, J.R., Nakamura, Y., and Kunkel, L.M. (2010) Zebrafish models for human FKRP muscular dystrophies. Human molecular genetics. 19(4):623-633
Sohn, R.L., Huang, P., Kawahara, G., Mitchell, M., Guyon, J., Kalluri, R., Kunkel, L.M., and Gussoni, E. (2009) A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion. Proceedings of the National Academy of Sciences of the United States of America. 106(23):9274-9279
Guyon, J.R., Goswami, J., Jun, S.J., Thorne, M., Howell, M., Pusack, T., Kawahara, G., Steffen, L.S., Galdzicki, M., and Kunkel, L.M. (2009) Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Human molecular genetics. 18(1):202-211
Steffen, L.S., Guyon, J.R., Vogel, E.D., Howell, M.H., Zhou, Y., Weber, G.J., Zon, L.I., and Kunkel, L.M. (2007) The zebrafish runzel muscular dystrophy is linked to the titin gene. Developmental Biology. 309(2):180-192
Langenau, D.M., Keefe, M.D., Storer, N.Y., Guyon, J.R., Kutok, J.L., Le, X., Goessling, W., Neuberg, D.S., Kunkel, L.M., and Zon, L.I. (2007) Effects of RAS on the genesis of embryonal rhabdomyosarcoma. Genes & Development. 21(11):1382-1395
Steffen, L.S., Guyon, J.R., Vogel, E.D., Beltre, R., Pusack, T.J., Zhou, Y., Zon, L.I., and Kunkel, L.M. (2007) Zebrafish orthologs of human muscular dystrophy genes. BMC Genomics. 8(1):79
Guyon, J.R., Steffen, L.S., Howell, M.H., Pusack, T.J., Lawrence, C., and Kunkel, L.M. (2007) Modeling human muscle disease in zebrafish. Biochimica et biophysica acta. Molecular basis of disease. 1772(2):205-215
Kunkel, L.M., Bachrach, E., Bennett, R.R., Guyon, J., and Steffen, L. (2006) Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish. Journal of Human Genetics. 51(5):397-406
Guyon, J.R., Mosley, A.N., Jun, S.J., Montanaro, F., Steffen, L.S., Zhou, Y., Nigro, V., Zon, L.I., and Kunkel, L.M. (2005) delta-Sarcoglycan is required for early zebrafish muscle organization. Experimental cell research. 304(1):105-115
Guyon, J.R., Mosley, A.N., Zhou, Y., O'Brien, K.F., Sheng, X., Chiang, K., Davidson, A.J., Volinski, J.M., Zon, L.I., and Kunkel, L.M. (2003) The dystrophin associated protein complex in zebrafish. Human molecular genetics. 12(6):601-615