R Bashir
Associate Professor
Department of Biosciences
Durham University
United Kingdom
Biography
R Bashir is Associate Professor in the Department of Biosciences and Fellow of the Wolfson Research Institute for Health and Wellbeing.
Research Interest
My area of research is Skeletal Muscle Biology and Muscular Dystrophy. My research is focussing on identifying the mechanisms involved in muscle membrane fusion processes. In skeletal muscle membrane fusion is involved in myoblast differentiation and membrane repair. In 1998 I was involved in the identification of the dysferlin gene, encoding a novel protein with a role in muscular dystrophy. My work showed that mutations in the dysferlin genes result in LGMD2B and Miyoshi Myopathy. We subsequenntly went on to characterise the muscle protein expression of dysferlin and identify a mouse model of dysferlinopathy. Dysferlin is a C2 domain protein sharing homology with a Caenorhabditis-elegans sperm vesicle fusion protein FER-1. Since the cloning of dysferlin further genes encoding dysferlin related proteins have been identified by my group and others. The ferlin protein family currently has 6 members although the cloning of only 2 additional ferlins ahs been reported.
Publications
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Lostal, W., Bartoli, M., Roudaut, C., Bourg, N., Krahn, M., Pryadkina, M., Borel, P., Suel, L., Roche, J.A., Stockholm, D., Bloch, R.J., Levy, N., Bashir, R. & Richard, I. (2012). Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS ONE 7(5): e38036.
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Sarkozy, A., Hicks, D., Hudson, J., Laval, S.H., Barresi, R., Hilton-Jones, D., Deschauer, M., Harris, E., Rufibach, L., Hwang, E., Bashir, R., Walter, M.C., Krause, S., van den Bergh, P., Illa, I., Pénisson-Besnier, I., De Waele, L., Turnbull, D., Guglieri, M., Schrank, B., Schoser, B., Seeger, J., Schreiber, H., Gläser, D., Eagle, M., Bailey, G., Walters, R., Longman, C., Norwood, F., Winer, J., Muntoni, F., Hanna, M., Roberts, M., Bindoff, L.A., Brierley, C., Cooper, R.G., Cottrell, D.A., Davies, N.P., Gibson, A., Gorman, G.S., Hammans, S., Jackson, A.P., Khan, A., Lane, R., McConville, J., McEntagart, M., Al-Memar, A., Nixon, J., Panicker, J., Parton, M., Petty, R., Price, C.J., Rakowicz, W., Ray, P., Schapira, A.H., Swingler, R., Turner, C., Wagner, K.R., Maddison, P., Shaw, P.J., Straub, V., Bushby, K. & Lochmüller, H. (2013). ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Human Mutation 34(8): 1111-1118.
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Defour, A., van der Meulen, J.H., Bhat, R., Bigot, A., Bashir, R., Nagaraju, K. & Jaiswal, J.K. (2014). Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion. Cell Death and Disease 5(6): e1306.
