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

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...

Full description

Bibliographic Details
Main Authors: Carolina Ortiz-Cordero, Alessandro Magli, Neha R Dhoke, Taylor Kuebler, Sridhar Selvaraj, Nelio AJ Oliveira, Haowen Zhou, Yuk Y Sham, Anne G Bang, Rita CR Perlingeiro
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2021-01-01
Series:eLife
Subjects:
dystroglycanopathies
pluripotent stem cells
in vitro modeling
Online Access:https://elifesciences.org/articles/65443

Internet

https://elifesciences.org/articles/65443

Similar Items