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Article

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

Stem cell reports - 9 Nov 2021

Ortiz-Cordero Carolina, Bincoletto Claudia, Dhoke Neha R, Selvaraj Sridhar, Magli Alessandro, Zhou Haowen, Kim Do-Hyung, Bang Anne G, Perlingeiro Rita C R

Abstract excerpt

Fukutin-related protein (FKRP) is a glycosyltransferase involved in glycosylation of alpha-dystroglycan (α-DG). Mutations in FKRP are associated with muscular dystrophies (MD) ranging from limb-girdle LGMDR9 to Walker-Warburg Syndrome (WWS), a severe type of congenital MD. Although hypoglycosylation of α-DG is the main hallmark of this group of diseases, a full understanding of the underlying pathophysiology is...

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Identifiers

PMID: 34653404
DOI: 10.1016/j.stemcr.2021.09.009
PMCID: PMC8581053

Genes

FKRP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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