Article
Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation.
Biochimica et biophysica acta. Molecular basis of disease - 1 Aug 2020
Fernández Gabriela, Arias-Bravo Guisselle, Bevilacqua Jorge A, Castillo-Ruiz Mario, Caviedes Pablo, Sáez Juan C, Cea Luis A
Abstract excerpt
Dysferlinopathy is a genetic human disease caused by mutations in the gene that encodes the dysferlin protein (DYSF). Dysferlin is believed to play a relevant role in cell membrane repair. However, in dysferlin-deficient (blAJ) mice (a model of dysferlinopathies) the recovery of the membrane resealing function by means of the expression of a mini-dysferlin does not arrest progressive muscular damage, suggesting...
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