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fukutin, FKTN
The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010] (from NCBI)
Top mentioned proteins: HAD, POMGnT1, CAN, glycosyltransferase, POMT2
Papers on fukutin
A case of pregnancy complicated with dilated cardiomyopathy 1X.
Fujii et al., Tokyo, Japan. In Oxf Med Case Reports, Nov 2015
Dilated cardiomyopathy 1X (CMD1X) is characterized by dilated cardiomyopathy (DCM) with mildest limb-girdle muscle symptoms and normal intelligence.
Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations.
Petiot et al., Lyon, France. In Neuromuscul Disord, Nov 2015
Immunohistochemical staining for sarcolemmal proteins in muscle biopsy samples finally led to a diagnosis of limb-girdle muscular dystrophy 2I (fukutin-related protein gene mutations).
Respiratory management of patients with Fukuyama congenital muscular dystrophy.
Ishigaki et al., Tokyo, Japan. In Brain Dev, Oct 2015
BACKGROUND: Fukuyama congenital muscular dystrophy (FCMD), characterized by intellectual impairment associated with cortical migration defects, is an autosomal recessive disorder caused by mutation in the fukutin gene.
[Current status and future prospects of research on Fukuyama muscular dystrophy].
Toda, In Nihon Rinsho, Aug 2015
All FCMD patients have ancestral insertion of the SVA retrotransposal element into fukutin.
Fukutin, identified by the Escherichia coli ampicillin secretion trap (CAST) method, participates in tumor progression in gastric cancer.
Yasui et al., Hiroshima, Japan. In Gastric Cancer, Aug 2015
METHODS: We analyzed candidate genes from our previous Escherichia coli ampicillin secretion trap (CAST) libraries in detail, and focused on the FKTN gene because it was overexpressed in both GC cell line CAST libraries, MKN-1 and MKN-45.
Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration.
Lu et al., Charlotte, United States. In Am J Pathol, Jul 2015
Mutations in fukutin-related protein (FKRP) gene are characterized with lack of functionally glycosylated α-dystroglycan (F-α-DG).
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.
Topaloglu et al., Boston, United States. In J Neuromuscul Dis, 2014
RESULTS: Pathogenic mutations in 3 different genes, DYSF, FKTN, and ISPD were identified in each family.
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Vargas et al., Brazil. In Arq Neuropsiquiatr, 2014
Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy.
Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Savarese et al., Napoli, Italy. In Acta Myol, 2014
The autosomal recessive forms (LGMD2) are: LGMD2A (calpain 3), LGMD2B (dysferlin), LGMD2C (γ sarcoglycan), LGMD2D (α sarcoglycan), LGMD2E (β sarcoglycan), LGMD2F (δ sarcoglycan), LGMD2G (telethonin), LGMD2H (TRIM32), LGMD2I (FKRP), LGMD2J (titin), LGMD2K (POMT1), LGMD2L (anoctamin 5), LGMD2M (fukutin), LGMD2N (POMT2), LGMD2O (POMTnG1), LGMD2P (dystroglycan), LGMD2Q (plectin), LGMD2R (desmin), LGMD2S (TRAPPC11), LGMD2T (GMPPB), LGMD2U (ISPD), LGMD2V (Glucosidase, alpha ), LGMD2W (PINCH2).
Congenital muscular dystrophies.
Kirschner, Freiburg, Germany. In Handb Clin Neurol, 2012
This chapter reviews the most common forms of congenital muscular dystrophies, including laminin α-2 (merosin) deficiency, Ullrich congenital muscular dystrophy, fukutin-related proteinopathy, rigid spine syndrome, and glycosylation disorders of α-dystroglycan.
Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy.
Campbell et al., Iowa City, United States. In J Clin Invest, 2012
Mouse fukutin deletion impairs dystroglycan processing, recapitulates muscular dystrophy and is relevant to modifications near the dystroglycan O-mannose sugar.
Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
Toda et al., Kōbe, Japan. In J Biol Chem, 2012
disease-causing missense mutations cause abnormal folding and localization of fukutin protein
[Recent Advances in α-dystroglycanopathy].
Toda et al., Kōbe, Japan. In Brain Nerve, 2011
Recent studies have suggested that a phosphodiester-linked structure on O-mannose is also important for the laminin-binding activity and that mutations in other causative genes of α-dystroglycanopathy, such as fukutin (originally identified as the gene responsible for FCMD) and LARGE, disrupt the post-phosphoryl structure.
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
Toda et al., Kōbe, Japan. In Nature, 2011
In FCMD, the SVA insertion occurs in the 3' untranslated region (UTR) of the fukutin gene.
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Morris-Rosendahl et al., Gaziantep, Turkey. In Neuromuscul Disord, 2011
four new non-Japanese patients with FKTN mutations and congenital muscular dystrophy
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
Chae et al., Seoul, South Korea. In Neuromuscul Disord, 2010
FKTN mutations are the most common genetic cause of congenital muscular dystrophies with defective alpha-dystroglycan glycosylation in Korea
Expression and purification of the transmembrane domain of Fukutin-I for biophysical studies.
Williamson et al., Southampton, United Kingdom. In Protein Expr Purif, 2010
the highly hydrophobic transmembrane domain of Fukutin-1 was purified; the identity of the peptide and revealed that in hydrophobic solvents mimicking the bilayer, the peptide adopts a well-structured alpha-helix as predicted from the sequence.
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
Murabito et al., Exeter, United Kingdom. In Nat Genet, 2009
The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462.
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
Campbell et al., Iowa City, United States. In Nature, 2002
The FCMD gene, fukutin, shares some homology with fringe-like glycosyltransferases, and the MEB gene, POMGnT1, seems to be a new glycosyltransferase.
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
Toda et al., Tokyo, Japan. In Nature, 1998
Fukuyama-type congenital muscular dystrophy (FCMD), one of the most common autosomal recessive disorders in Japan (incidence is 0.7-1.2 per 10,000 births), is characterized by congenital muscular dystrophy associated with brain malformation (micropolygria) due to a defect in the migration of neurons.
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