ZFIN ID: ZDB-PERS-090527-1
Dowling, Jim
Email: james.dowling@sickkids.ca
URL:
Affiliation: Jim Dowling Lab
Address: Mogford Campbell Family Chair of Paediatric Clinical Neuroscience Staff Clinician, Division of Neurology Senior Scientist, Program for Genetics and Genome Biology Hospital for Sick Children Professor, Departments of Paediatrics and Molecular Genetics, University of Toronto Peter Gilgan Centre for Research and Learning 686 Bay Street Toronto, ON M5G 0A4
Country: Canada
Phone: 734 615-6231
Fax:
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS
The Dowling lab is interested in the role of phosphoinositide metabolism and membrane trafficking in the development and maintenance of the peripheral nervous system. We are also seeking to understand and develop treatments for muscle and nerve disorders related to abnormalities in membrane trafficking.


PUBLICATIONS
Volpatti, J.R., Ghahramani-Seno, M.M., Mansat, M., Sabha, N., Sarikaya, E., Goodman, S.J., Chater-Diehl, E., Celik, A., Pannia, E., Froment, C., Combes-Soia, L., Maani, N., Yuki, K.E., Chicanne, G., Uusküla-Reimand, L., Monis, S., Alvi, S.A., Genetti, C.A., Payrastre, B., Beggs, A.H., Bonnemann, C.G., Muntoni, F., Wilson, M.D., Weksberg, R., Viaud, J., Dowling, J.J. (2022) X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathologica. 144(3):537-563
Endo, Y., Groom, L., Celik, A., Kraeva, N., Lee, C.S., Jung, S.Y., Gardner, L., Shaw, M.A., Hamilton, S.L., Hopkins, P.M., Dirksen, R.T., Riazi, S., Dowling, J.J. (2022) Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility. Nature communications. 13:3403
Espinosa, K.G., Geissah, S., Groom, L., Volpatti, J., Scott, I.C., Dirksen, R.T., Zhao, M., Dowling, J.J. (2022) Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy. Disease models & mechanisms. 15(5):
Smith, L., Fabian, L., Al-Maawali, A., Noche, R.R., Dowling, J.J. (2020) De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis. PLoS One. 15:e0231364
Fabian, L., Dowling, J.J. (2020) Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A). Frontiers in molecular neuroscience. 13:122
Lawal, T.A., Wires, E.S., Terry, N.L., Dowling, J.J., Todd, J.J. (2020) Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019. Orphanet journal of rare diseases. 15:113
Jardine, S., Anderson, S., Babcock, S., Leung, G., Pan, J., Dhingani, N., Warner, N., Guo, C., Siddiqui, I., Kotlarz, D., Dowling, J.J., Melnyk, R., Snapper, S.B., Klein, C., Thiagarajah, J.R., Muise, A.M. (2019) Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency. Gastroenterology. 158(4):1000-1015
Zhao, M., Smith, L., Volpatti, J., Fabian, L., Dowling, J.J. (2019) Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish. Human molecular genetics. 28(24):4186-4196
Zabinyakov, N., Bullivant, G., Cao, F., Fernandez Ojeda, M., Jia, Z.P., Wen, X.Y., Dowling, J.J., Salomons, G.S., Mercimek-Andrews, S. (2017) Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. PLoS One. 12:e0186645
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
Sabha, N., Volpatti, J.R., Gonorazky, H., Reifler, A., Davidson, A.E., Li, X., Eltayeb, N.M., Dall'Armi, C., Di Paolo, G., Brooks, S.V., Buj-Bello, A., Feldman, E.L., Dowling, J.J. (2016) PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. The Journal of Clinical Investigation. 126(9):3613-25
Hanwell, D., Hutchinson, S.A., Collymore, C., Bruce, A.E., Louis, R., Ghalami, A., Allison, W.T., Ekker, M., Eames, B.F., Childs, S., Kurrasch, D.M., Gerlai, R., Thiele, T., Scott, I., Ciruna, B., Dowling, J.J., McFarlane, S., Huang, P., Wen, X.Y., Akimenko, M.A., Waskiewicz, A.J., Drapeau, P., Babiuk, L.A., Dragon, D., Smida, A., Buret, A.G., O'Grady, E., Wilson, J., Sowden-Plunkett, L., Tropepe, V. (2016) Restrictions on the Importation of Zebrafish into Canada Associated with Spring Viremia of Carp Virus. Zebrafish. 13 Suppl 1:S153-63
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
Waugh, T.A., Horstick, E., Hur, J., Jackson, S.W., Davidson, A.E., Li, X., Dowling, J.J. (2014) Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy. Human molecular genetics. 23(17):4651-62
Gibbs, E.M., Davidson, A.E., Telfer, W.R., Feldman, E.L., and Dowling, J.J. (2014) Defective tubulation associated with the myopathy causing S619L DNM2 mutation. Disease models & mechanisms. 7(1):157-61
Horstick, E.J., Gibbs, E.M., Li, X., Davidson, A.E., and Dowling, J.J. (2013) Analysis of embryonic and larval zebrafish skeletal myofibers from dissociated preparations. Journal of visualized experiments : JoVE. (81):e50259
Gibbs, E.M., Horstick, E.J., and Dowling, J.J. (2013) Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies. The FEBS journal. 280(17):4187-97
Gibbs, E.M., Clarke, N.F., Rose, K., Oates, E.C., Webster, R., Feldman, E.L., and Dowling, J.J. (2013) Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. Journal of molecular medicine (Berlin, Germany). 91(6):727-37
Davidson, A.E., Siddiqui, F.M., Lopez, M.A., Lunt, P., Carlson, H.A., Moore, B.E., Love, S., Born, D.E., Roper, H., Majumdar, A., Jayadev, S., Underhill, H.R., Smith, C.O., von der Hagen, M., Hubner, A., Jardine, P., Merrison, A., Curtis, E., Cullup, T., Jungbluth, H., Cox, M.O., Winder, T.L., Abdel Salam, H., Li, J.Z., Moore, S.A., and Dowling, J.J. (2013) Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain : a journal of neurology. 136(2):508-521
Gibbs, E.M., Davidson, A.E., Trickey-Glassman, A., Backus, C., Hong, Y., Sakowski, S.A., Dowling, J.J., and Feldman, E.L. (2013) Two dynamin-2 genes are required for normal zebrafish development. PLoS One. 8(2):e55888
Horstick, E.J., Linsley, J.W., Dowling, J.J., Hauser, M.A., McDonald, K.K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W.W., Zhou, W., Sprague, S.M., Stamm, D.S., Powell, C.M., Speer, M.C., Franzini-Armstrong, C., Hirata, H., and Kuwada, J.Y. (2013) Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nature communications. 4:1952
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
Dowling, J.J., Arbogast, S., Hur, J., Nelson, D.D., McEvoy, A., Waugh, T., Marty, I., Lunardi, J., Brooks, S.V., Kuwada, J.Y., and Ferreiro, A. (2012) Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain : a journal of neurology. 135(4):1115-1127
Pluskota, E., Dowling, J.J., Gordon, N., Golden, J.A., Szpak, D., West, X.Z., Nestor, C., Ma, Y.Q., Bialkowska, K., Byzova, T., and Plow, E.F. (2011) The integrin co-activator Kindlin-2 plays a critical role in angiogenesis in mice and zebrafish. Blood. 117(18):4978-4987
Gibbs, E.M., Feldman, E.L., and Dowling, J.J. (2010) The role of MTMR14 in autophagy and in muscle disease. Autophagy. 6(6):819-820
Dowling, J.J., Low, S.E., Busta, A.S., and Feldman, E.L. (2010) Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy. Human molecular genetics. 19(13):2668-2681
Telfer, W.R., Busta, A.S., Bonnemann, C.G., Feldman, E.L., and Dowling, J.J. (2010) Zebrafish Models of Collagen VI Related Myopathies. Human molecular genetics. 19(12):2433-2444
Dowling, J.J., Vreede, A.P., Low, S.E., Gibbs, E.M., Kuwada, J.Y., Bonnemann, C.G., and Feldman, E.L. (2009) Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genetics. 5(2):e1000372
Dowling, J.J., Gibbs, E., Russell, M., Goldman, D., Minarcik, J., Golden, J.A., and Feldman, E.L. (2008) Kindlin-2 Is an Essential Component of Intercalated Discs and Is Required for Vertebrate Cardiac Structure and Function. Circulation research. 102(4):423-431

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