NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes

Mutations in the fukutin-related protein (FKRP) cause Walker-Warburg syndrome (WWS), a severe form of congenital muscular dystrophy. Here, we established a WWS human induced pluripotent stem cell-derived myogenic model that recapitulates hallmarks of WWS pathology. We used this model to investigate...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:eLife
Egile Nagusiak: Ortiz-Cordero, Carolina, Magli, Alessandro, Dhoke, Neha R, Kuebler, Taylor, Selvaraj, Sridhar, Oliveira, Nelio AJ, Zhou, Haowen, Sham, Yuk Y, Bang, Anne G, Perlingeiro, Rita CR
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: eLife Sciences Publications, Ltd 2021
Gaiak:
Cell Biology
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7924940/
https://ncbi.nlm.nih.gov/pubmed/33513091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.65443
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