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

Abstract 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...

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Principais autores:	Emilia Servián‐Morilla, Hideyuki Takeuchi, Tom V Lee, Jordi Clarimon, Fabiola Mavillard, Estela Area‐Gómez, Eloy Rivas, Jose L Nieto‐González, Maria C Rivero, Macarena Cabrera‐Serrano, Leonardo Gómez‐Sánchez, Jose A Martínez‐López, Beatriz Estrada, Celedonio Márquez, Yolanda Morgado, Xavier Suárez‐Calvet, Guillermo Pita, Anne Bigot, Eduard Gallardo, Rafael Fernández‐Chacón, Michio Hirano, Robert S Haltiwanger, Hamed Jafar‐Nejad, Carmen Paradas
Format:	Artigo
Jezik:	Inglês
Izdano:	Springer Nature 2016-10-01
Serija:	EMBO Molecular Medicine
Teme:	muscular dystrophy Notch O‐glycosylation POGLUT1 satellite cell
Online dostop:	https://doi.org/10.15252/emmm.201505815
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