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Article

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

Human molecular genetics - 15 May 2017

Gicquel Evelyne, Maizonnier Natacha, Foltz Steven J, Martin William J, Bourg Nathalie, Svinartchouk Fedor, Charton Karine, Beedle Aaron M, Richard Isabelle

Abstract excerpt

Limb Girdle Muscular Dystrophies type 2I (LGMD2I), a recessive autosomal muscular dystrophy, is caused by mutations in the Fukutin Related Protein (FKRP) gene. It has been proposed that FKRP, a ribitol-5-phosphate transferase, is a participant in α-dystroglycan (αDG) glycosylation, which is important to ensure the cell/matrix anchor of muscle fibers. A LGMD2I knock-in mouse model was generated to express the most...

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Share to Dystroglycans
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophies

Share to Muscular Dystrophies, Limb-Girdle

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Source

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Identifiers

PMID: 28334834
DOI: 10.1093/hmg/ddx066
PMCID: PMC6251615

Genes

FKRP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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