Associated Papers
Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche.
Ortiz-Vitali JL et al.
Molecular Therapy. Nucleic Acids, 2023
The Notch signaling pathway in skeletal muscle health and disease.
Vargas-Franco D et al.
Muscle & Nerve, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Structure, function, and pathology of protein O-glucosyltransferases.
Mehboob MZ et al.
Cell Death & Disease, 2021
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E et al.
Acta Neuropathologica, 2020
Effects of Notch glycosylation on health and diseases.
Urata Y et al.
Development, Growth & Differentiation, 2020
Protein O-glucosylation: another essential role of glucose in biology.
Yu H et al.
Current Opinion in Structural Biology, 2019
O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery.
van Tol W et al.
Current Opinion in Structural Biology, 2019
Congenital diseases caused by defective O-glycosylation of Notch receptors.
Tashima Y et al.
Nagoya Journal of Medical Science, 2018
Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).
Wu J et al.
Stem Cell Research, 2017
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
Servián-Morilla E et al.
Embo Molecular Medicine, 2016
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