Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical nemaline myopathy (NM), a muscle disorder characterized by muscle weakness with limited treatment options. We created a mouse mod...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: Lindqvist, Johan, Ma, Weikang, Li, Frank, Hernandez, Yaeren, Kolb, Justin, Kiss, Balazs, Tonino, Paola, van der Pijl, Robbert, Karimi, Esmat, Gong, Henry, Strom, Josh, Hourani, Zaynab, Smith, John E., Ottenheijm, Coen, Irving, Thomas, Granzier, Henk
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7264197/
https://ncbi.nlm.nih.gov/pubmed/32483185
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-16526-9
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados