TY  - JOUR
AU  - Servian-Morilla, Emilia
AU  - Takeuchi, Hideyuki
AU  - Lee, Tom V
AU  - Clarimon, Jordi
AU  - Mavillard, Fabiola
AU  - Area-Gomez, Estela
AU  - Rivas, Eloy
AU  - Nieto-Gonzalez, Jose L
AU  - Rivero, Maria C
AU  - Cabrera-Serrano, Macarena
AU  - Gomez-Sanchez, Leonardo
AU  - Martinez-Lopez, Jose A
AU  - Estrada, Beatriz
AU  - Marquez, Celedonio
AU  - Morgado, Yolanda
AU  - Suarez-Calvet, Xavier
AU  - Pita, Guillermo
AU  - Bigot, Anne
AU  - Gallardo, Eduard
AU  - Fernandez-Chacon, Rafael
AU  - Hirano, Michio
AU  - Haltiwanger, Robert S
AU  - Jafar-Nejad, Hamed
AU  - Paradas, Carmen
PY  - 2016
DO  - 10.15252/emmm.201505815
UR  - http://hdl.handle.net/10668/10574
T2  - EMBO molecular medicine
AB  - 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...
LA  - en
PB  - EMBO Press
KW  - Notch
KW  - O‐glycosylation
KW  - POGLUT1
KW  - muscular dystrophy
KW  - satellite cell
KW  - Biopsy
KW  - Glucosyltransferases
KW  - Glycosylation
KW  - Glycosyltransferases
KW  - Humans
KW  - Muscles
KW  - Muscular Dystrophies
KW  - Mutation
KW  - Receptors, Notch
KW  - Satellite Cells, Skeletal Muscle
KW  - Sequence Analysis, DNA
KW  - Signal Transduction
KW  - Spain
TI  - A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
TY  - research article
VL  - 8
ER  -