ArticlePloS one2011
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 39 citations in OpenAlex.
- Expression of Dystroglycanopathy-Related Enzymes, POMGNT2 and POMGNT1, in the Mammalian Retina and 661W Cone-like Cell Line.Biomedicines · 2025Article
- Molecular Study of the Fukutin-Related Protein (International journal of molecular sciences · 2024Article
- Efficacy and muscle safety assessment of fukutin-related protein gene therapy.Molecular therapy. Methods & clinical development · 2023Article
- Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.Frontiers in molecular biosciences · 2023Article
- Hidden Relationships betweenInternational journal of molecular sciences · 2022Review
- High degree of conservation of the enzymes synthesizing the laminin-binding glycoepitope of α-dystroglycan.Open biology · 2021Article
- FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.Nature communications · 2021Article
- Fukutin-Related Protein: From Pathology to Treatments.Trends in cell biology · 2021Review
- Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy.Nature communications · 2020Article
- AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.Human molecular genetics · 2017Article
- FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.Journal of human genetics · 2016Article
- Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy.Molecular & cellular proteomics : MCP · 2016Article
- Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex.Anatomical record (Hoboken, N.J. : 2007) · 2014Review
- Human Eosinophil Leukocytes Express Protein Disulfide Isomerase in Secretory Granules and Vesicles: Ultrastructural Studies.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2014Article
- Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions.Molecular therapy : the journal of the American Society of Gene Therapy · 2013Article
- A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.Skeletal muscle · 2013Article
- Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.American journal of human genetics · 2012Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Limb-Girdle Muscular Dystrophy type 2I (LGMD2I) is an inheritable autosomal, recessive disorder caused by mutations in the FuKutin-Related Protein (FKRP) gene (FKRP) located on chromosome 19 (19q13.3). Mutations in FKRP are also associated with Congenital Muscular Dystrophy (MDC1C), Walker-Warburg Syndrome (WWS) and Muscle Eye Brain disease (MEB). These four disorders share in common an incomplete/aberrant O-glycosylation of the membrane/extracellular matrix (ECM) protein α-dystroglycan. However, further knowledge on the FKRP structure and biological function is lacking, and its intracellular location is controversial. Based on immunogold electron microscopy of human skeletal muscle sections we demonstrate that FKRP co-localises with the middle-to-trans-Golgi marker MG160, between the myofibrils in human rectus femoris muscle fibres. Chemical cross-linking experiments followed by pairwise yeast 2-hybrid experiments, and co-immune precipitation, demonstrate that FKRP can exist as homodimers as well as in large multimeric protein complexes when expressed in cell culture. The FKRP homodimer is kept together by a disulfide bridge provided by the most N-terminal cysteine, Cys6. FKRP contains N-glycan of high mannose and/or hybrid type; however, FKRP N-glycosylation is not required for FKRP homodimer or multimer formation. We propose a model for FKRP which is consistent with that of a Golgi resident type II transmembrane protein.
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