POGLUT1 biallelic mutations cause a myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

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 has been reported in one family as cause of an adul...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Acta Neuropathol
Prif Awduron: Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K.G., Grewal, R.P., Takeuchi, M., Hao, H., Bönnemann, C., Neto, O.A., Medne, L., Brandsema, J., Topf, A., Taneva, A., Vilchez, J.J., Tournev, I., Haltiwanger, R.S., Takeuchi, H., Jafar-Nejad, H., Straub, V., Paradas, C.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2020
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7196238/
https://ncbi.nlm.nih.gov/pubmed/31897643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-019-02117-6
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