Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

eLife - 29 Jan 2021

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

Abstract excerpt

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 the therapeutic effect of metabolites of the pentose phosphate pathway in human WWS. We show that functional...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Line
Share to Dystroglycans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosylation

Share to Muscle Fibers, Skeletal

Share to Mutation

Share to Pentosyltransferases

Share to Ribose

Source

Open in PubMed Open full text

Identifiers

PMID: 33513091
DOI: 10.7554/eLife.65443
PMCID: PMC7924940

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes.PMID 33513091Read ↗

Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant miceSemantic proximity Read ↗

Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in DystroglycanopathySemantic proximity Read ↗

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.Semantic proximity Read ↗

Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I.Semantic proximity Read ↗

ISPD Overexpression Enhances Ribitol-Induced Glycosylation of α-Dystroglycan in Dystrophic FKRP Mutant MiceSemantic proximity Read ↗

A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy.Semantic proximity Read ↗

FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.Semantic proximity Read ↗

Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.Semantic proximity Read ↗

Targeted gene correction of <i>FKRP</i> by CRISPR/Cas9 restores functional glycosylation of α-dystroglycan in cortical neurons derived from human induced pluripotent stem cellsSemantic proximity Read ↗

Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle FunctionSemantic proximity Read ↗

AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.Semantic proximity Read ↗

NAD+ Biosynthesis Ameliorates a Zebrafish Model of Muscular DystrophySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.