TY  - JOUR
AU  - Servián-Morilla, E
AU  - Cabrera-Serrano, M
AU  - Johnson, K
AU  - Pandey, A
AU  - Ito, A
AU  - Rivas, E
AU  - Chamova, T
AU  - Muelas, N
AU  - Mongini, T
AU  - Nafissi, S
AU  - Claeys, K G
AU  - Grewal, R P
AU  - Takeuchi, M
AU  - Hao, H
AU  - Bönnemann, C
AU  - Lopes Abath Neto, O
AU  - Medne, L
AU  - Brandsema, J
AU  - Töpf, A
AU  - Taneva, A
AU  - Vilchez, J J
AU  - Tournev, I
AU  - Haltiwanger, R S
AU  - Takeuchi, H
AU  - Jafar-Nejad, H
AU  - Straub, V
AU  - Paradas, Carmen
PY  - 2020
DO  - 10.1007/s00401-019-02117-6
UR  - http://hdl.handle.net/10668/14912
T2  - Acta neuropathologica
AB  - Protein O-glucosyltransferase 1 (POGLUT1) activity is critical for the Notch signaling pathway, being one of the main enzymes responsible for the glycosylation of the extracellular domain of Notch receptors. A biallelic mutation in the POGLUT1 gene...
LA  - en
KW  - Muscle dystrophy
KW  - Notch
KW  - POGLUT1
KW  - Satellite cells
KW  - α-Dystroglycan
KW  - Animals
KW  - Animals, Genetically Modified
KW  - Drosophila melanogaster
KW  - Dystroglycans
KW  - Female
KW  - Genetic Association Studies
KW  - Glucosyltransferases
KW  - Glycosylation
KW  - Humans
KW  - Male
KW  - Muscle, Skeletal
KW  - Muscular Dystrophies, Limb-Girdle
KW  - Mutation
KW  - Pedigree
KW  - Satellite Cells, Skeletal Muscle
TI  - POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
TY  - research article
VL  - 139
ER  -