Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

Abstract Dysferlin is a Ca2+-activated lipid binding protein implicated in muscle membrane repair. Recessive variants in DYSF result in dysferlinopathy, a progressive muscular dystrophy. We showed previously that calpain cleavage within a motif encoded by alternatively spliced exon 40a releases a 72...

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Bibliographic Details
Main Authors: Joe Yasa, Claudia E. Reed, Adam M. Bournazos, Frances J. Evesson, Ignatius Pang, Mark E. Graham, Jesse R. Wark, Brunda Nijagal, Kim H. Kwan, Thomas Kwiatkowski, Rachel Jung, Noah Weisleder, Sandra T. Cooper, Frances A. Lemckert
Format: Article
Language:English
Published: BMC 2023-01-01
Series:Acta Neuropathologica Communications
Online Access:https://doi.org/10.1186/s40478-022-01473-x

Internet

https://doi.org/10.1186/s40478-022-01473-x

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