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

Dysferlin is a Ca(2+)-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 kDa C-...

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Detalles Bibliográficos
Autores principales: Yasa, Joe, Reed, Claudia E., Bournazos, Adam M., Evesson, Frances J., Pang, Ignatius, Graham, Mark E., Wark, Jesse R., Nijagal, Brunda, Kwan, Kim H., Kwiatkowski, Thomas, Jung, Rachel, Weisleder, Noah, Cooper, Sandra T., Lemckert, Frances A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9847081/
https://www.ncbi.nlm.nih.gov/pubmed/36653852
http://dx.doi.org/10.1186/s40478-022-01473-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9847081/
https://www.ncbi.nlm.nih.gov/pubmed/36653852
http://dx.doi.org/10.1186/s40478-022-01473-x

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