Article
Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption.
The American journal of pathology - 1 Jun 2016
Demonbreun Alexis R, Allen Madison V, Warner James L, Barefield David Y, Krishnan Swathi, Swanson Kaitlin E, Earley Judy U, McNally Elizabeth M
Abstract excerpt
Dysferlin is a membrane-associated protein implicated in membrane resealing; loss of dysferlin leads to muscular dystrophy. We examined the same loss-of-function Dysf mutation in two different mouse strains, 129T2/SvEmsJ (Dysf(129)) and C57BL/6J (Dysf(B6)). Although there are many genetic differences between these two strains, we focused on polymorphisms in Anxa6 because these variants were previously associated...
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