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

doi:10.15252/emmm.201505815

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Article

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

EMBO molecular medicine - 1 Nov 2016

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

Abstract excerpt

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 enzyme involved in Notch posttranslational modification and function. In vitro and in vivo experiments demonstrated...

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Identifiers

PMID: 27807076
DOI: 10.15252/emmm.201505815
PMCID: PMC5090660

Genes

POGLUT1
PAX7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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