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Article

Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.

Muscle & nerve - 1 Oct 2007

Keramaris-Vrantsis Elizabeth, Lu Pei J, Doran Timothy, Zillmer Allen, Ashar Jignya, Esapa Christopher T, Benson Matthew A, Blake Derek J, Rosenfeld Jeffrey, Lu Qi L

Abstract excerpt

Mutations in the fukutin-related protein gene (FKRP) are associated with a spectrum of diseases from mild limb-girdle muscular dystrophy type 2I to severe congenital muscular dystrophy type 1C, muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). The effect of mutations on the transportation of the mutant proteins may constitute the underlying mechanisms for the pathogenesis of these diseases. Here...

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Source

Identifiers

PMID: 17554798
DOI: 10.1002/mus.20833

Genes

FKRP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.PMID 17554798Read ↗

Functional requirements for fukutin-related protein in the Golgi apparatus.Semantic proximity Read ↗

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.Semantic proximity Read ↗

Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.Semantic proximity Read ↗

Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal InteractionSemantic proximity Read ↗

Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.Semantic proximity Read ↗

Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycanSemantic proximity Read ↗

Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failureSemantic proximity Read ↗

FKRP directed fibronectin glycosylation: A novel mechanism giving insights into muscular dystrophies?Semantic proximity Read ↗

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.Semantic proximity Read ↗

Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy.Semantic proximity Read ↗

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.Semantic proximity Read ↗

Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.Semantic proximity Read ↗

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