ZFIN ID: ZDB-PERS-131009-1
Kunkel, Louis M.
Email: kunkel@enders.tch.harvard.edu
URL: http://www.childrenshospital.org/research-and-innovation/research-labs/kunkel-laboratory
Affiliation: Kunkel Lab
Address: Boston Children’s Hospital 3 Blackfan Circle CLS15027.3 Boston, MA 02115
Country: United States
Phone: 1-617-355-6729
Fax: 1-617-730-0253

Dr. Kunkel has had a long-standing interest in intellectual and developmental disabilities with specific emphasis on neuromuscular disorders. He has extensive experience in gene mapping and gene discovery, being one of the first laboratories to positionally clone a human disease gene. He has more recently become involved in the modeling human diseases using the zebrafish, and using these models to identifying novel corrective drug compounds for the treatment of muscle diseases.

Widrick, J.J., Lambert, M.R., Kunkel, L.M., Beggs, A.H. (2023) Optimizing assays of zebrafish larvae swimming performance for drug discovery. Expert opinion on drug discovery. 18(6):629-641
Alexander, M.S., Hightower, R.M., Reid, A.L., Bennett, A.H., Iyer, L., Slonim, D.K., Saha, M., Kawahara, G., Kunkel, L.M., Kopin, A.S., Gupta, V.A., Kang, P.B., Draper, I. (2021) hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Muscle & nerve. 63(6):928-940
Lambert, M.R., Spinazzola, J.M., Widrick, J.J., Pakula, A., Conner, J.R., Chin, J.E., Owens, J.M., Kunkel, L.M. (2020) PDE10A inhibition reduces the manifestation of pathology in DMD zebrafish and represses the genetic modifier PITPNA. Molecular therapy : the journal of the American Society of Gene Therapy. 29(3):1086-1101
Spinazzola, J.M., Lambert, M.R., Gibbs, D.E., Conner, J.R., Krikorian, G.L., Pareek, P., Rago, C., Kunkel, L.M. (2020) Effect of serotonin modulation on dystrophin-deficient zebrafish. Biology Open. 9(8):
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):
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
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
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
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
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
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
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