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

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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Main Authors: 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: Article
Language:English
Published: Springer Nature 2016-10-01
Series:EMBO Molecular Medicine
Subjects:
muscular dystrophy
Notch
O‐glycosylation
POGLUT1
satellite cell
Online Access:https://doi.org/10.15252/emmm.201505815
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https://doi.org/10.15252/emmm.201505815

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