A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limb‐girdle muscular dystrophy, we identified a missense mutation in POGLUT1 (protein O‐glucosyltransferase 1), an e...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:EMBO Mol Med
Autors principals: Servián‐Morilla, Emilia, Takeuchi, Hideyuki, Lee, Tom V, Clarimon, Jordi, Mavillard, Fabiola, Area‐Gómez, Estela, Rivas, Eloy, Nieto‐González, Jose L, Rivero, Maria C, Cabrera‐Serrano, Macarena, Gómez‐Sánchez, Leonardo, Martínez‐López, Jose A, Estrada, Beatriz, Márquez, Celedonio, Morgado, Yolanda, Suárez‐Calvet, Xavier, Pita, Guillermo, Bigot, Anne, Gallardo, Eduard, Fernández‐Chacón, Rafael, Hirano, Michio, Haltiwanger, Robert S, Jafar‐Nejad, Hamed, Paradas, Carmen
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2016
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5090660/
https://ncbi.nlm.nih.gov/pubmed/27807076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201505815
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars