KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several proteins of unknown function have been implicated in NM, but the mechanistic basis of their contribution to disease remains un...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Garg, Ankit, O’Rourke, Jason, Long, Chengzu, Doering, Jonathan, Ravenscroft, Gianina, Bezprozvannaya, Svetlana, Nelson, Benjamin R., Beetz, Nadine, Li, Lin, Chen, She, Laing, Nigel G., Grange, Robert W., Bassel-Duby, Rhonda, Olson, Eric N.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2014
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4109545/
https://ncbi.nlm.nih.gov/pubmed/24960163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI74994
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares