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Article

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

Neuromuscular disorders : NMD - 1 Dec 2005

Torelli Silvia, Brown Susan C, Brockington Martin, Dolatshad Nazanin F, Jimenez Cecilia, Skordis Leigh, Feng Lucy H, Merlini Luciano, Jones David Hilton, Romero Norma, Wewer Ulla, Voit Thomas, Sewry Caroline A, Noguchi Satoru, Nishino Ichizo, Muntoni Francesco

Abstract excerpt

MDC1C and LGMD2I are two allelic forms of muscular dystrophies caused by mutations in the gene encoding for fukutin related protein (FKRP). FKRP encodes for a putative glycosyltransferase, the precise function of which is unknown. However, the marked reduction of alpha-dystroglycan glycosylation in the muscle of MDC1C and LGMD2I patients suggests a role for FKRP in dystroglycan processing. Using a polyclonal...

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Identifiers

PMID: 16288869
DOI: 10.1016/j.nmd.2005.09.004

Genes

FKRP

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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.

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Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.PMID 16288869Read ↗

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

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

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.Semantic proximity Read ↗

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

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

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Functional implications of Fkrp deficiencySemantic proximity Read ↗

Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.Semantic proximity Read ↗

Dystrophin-Glycoprotein Complex: Post-translational Processing and Dystroglycan FunctionSemantic proximity Read ↗

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