Publications - Muscular Dystrophy

Aberrant pre-mRNA alternative splicing in myotonic dystrophy: implications for disease phenotype. Philips, A., Savkur, R. and Cooper, T. ASHG Meeting, Philadelphia, PA, 2000. [abstract] 

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Savkur, A., Philips, A. and Cooper, T. Nature Genet. 29, 40-47, 2001. [paper] 

Aberrant splicing of the insulin receptor pre-mRNA could contribute to insulin resistance in the trinucleotide repeat disorder, myotonic dystrophy. Savkur, R., Philips, A. and Cooper, T. 50th Annual ASHG Meeting, Philadelphia, PA, 2000. [abstract] 

LARGE can functionally bypass a-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Barresi, R., Michele, D., Kanagawa, M., Harper, H., Dovico, S., Satz, J., Moore, S., Zhang, W., Schachter, H., Dumanski, J., Cohn, R., Nishino, I. and Campbell, K. Nature Medicine 10: 696-705, 2004. [paper] 

RNA toxicity in myotonic muscular dystorphy induces NKX2-5 expression. Yadave, R., Frenzel-McCardell, C., Yu, Q., Srinivasan, V., Tucker, A., Puymirat, J., Thornton, C., Prall, W., Harvery, R., and Mahadevan, M. Nature Genetics 40:61-68, 2008. [paper] 

Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Mahadevan, M., Yadava, R., Yu, Q., Balijepalli, S., Frenzel-McCardell, C., Bourne, T. and Phillips, L. Nature Genetics 38: 1066-1070, 2006. [paper] 

The trinucleotide expansion that causes myotonic dystrophy creates an RNA gain-of-function mutation. Philips, A., Savkur, R., Ladd, A. and Cooper, T. Dynamic Organization of the Nucleus, Cold Spring Harbor Meeting, NY, 2000. [abstract]