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anti-Human Fukutin Antibodies:
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Fukutin and FKRP have functions that affect ocular development in zebrafish independently of dystroglycan.
Muscle pathology in embryos lacking Fukutin or FKRP is different from loss of dystroglycan; knockdown of Fukutin or FKRP leads to a notochord defect and a perturbation of laminin expression before muscle degeneration.
The results suggest that fukutin and FKRP not only participate in the synthesis of O-mannosyl glycans added to alpha-dystroglycan in the endoplasmic reticulum and Golgi complex, but that they could also play a role, that remains to be established, in the nucleus of retinal neurons.
ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan.
the mutated fukutin protein was smaller than the normal protein, reflecting the truncation of fukutin due to a premature stop codon. Immunostaining analysis showed a decrease in the signal for the glycosylated form of alpha-dystroglycan. These findings indicated that this mutation is the second most prevalent loss-of-function mutation in Japanese Fukuyama congenital muscular dystrophy patients.
Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function.
Fukutin and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol.
Fukutin role in in tumor progression in gastric cancer
Mutation in the fukutin gene is associated with Fukuyama congenital muscular dystrophy and microcephaly.
four new non-Japanese patients with FKTN mutations and congenital muscular dystrophy
FKTN mutations are the most common genetic cause of congenital muscular dystrophies with defective alpha-dystroglycan glycosylation in Korea
In Fukuyama congenital muscular dystrophy (FCMD) cases, expression of fukutin looked decreased.
Fukutin is associated with Walker-Warburg syndrome.
Data suggest that fukutin and fukutin-related protein (FKRP) may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP is most likely involved in the initial step in this synthesis.
Fukutin seems to bind to both the hypoglycosylated and fully glycosylated form of alpha-dystroglycan, and seems bind to the core area rather than the sugar chain of alpha-dystroglycan
Walker-Warburg syndrome carries a homozygous-single nucleotide insertion that produces a frameshift, or 2 mutations, a point mutation that produces an amino acid substitution, & deletion in 3'UTR that affects the polyadenylation signal of fukutin gene.
FCMD mutations are a more common cause of Walker-Warburg syndrome outside of the Middle East.
The homozygous nonsense mutations within the coding region identified in Turkish patients are predicted to cause a total loss of fukutin activity and are likely to produce a more severe phenotype which closely resembles WWS.
The compound heterozygous FKTN mutation was a rare cause of dilated cardiomyopathy. Hyper-CKemia might be indicative of FKTN mutation in dilated cardiomyopathy.
Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP.
an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults
Our results provide further evidence for ethnic and allelic heterogeneity and the presence of milder phenotypes in FKTN-dystroglycanopathy despite a substantial degree of alpha-dystroglycan hypoglycosylation in skeletal muscle.
Rapamycin treatment in fukutin-deficient mouse model of dystroglycanopathy delays/reduces disease burden.
Fktn deficient mice express moderate to severe muscular dystrophy; glycosylated alpha-dystroglycan has a unique role in muscle regeneration in these mice
Mouse fukutin deletion impairs dystroglycan processing, recapitulates muscular dystrophy and is relevant to modifications near the dystroglycan O-mannose sugar.
disease-causing missense mutations cause abnormal folding and localization of fukutin protein
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.
Fukuyama-type congenital muscular dystrophy (FCMD) murine ortholog, Fcmd is 90% identical to that of its human counterpart
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the FCMD locus, in three Tunisian patients
These results support the hypothesis that fukutin is involved in the glycosylation process of alpha-DG and that a defect in this process plays an essential role in the pathogenesis of FCMD.
The basal lamina of the cortical surface in chimeras showed defects at E14, coinciding with the earliest time point at which ectopia were detected
From these findings, we propose that fukutin forms a complex with POMGnT1 and may modulate its enzymatic activity.
fukutin plays crucial roles in the myelination of peripheral nerve and formation of neuromuscular junction. suggest that defective glycosylation of alpha-dystroglycan may play a role in the impairment of these processes in the deficiency of fukutin.
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.
Fukuyama type congenital muscular dystrophy (fukutin)
, Fukuyama type congenital muscular dystrophy protein
, patient fukutin
, Fukuyama type congenital muscular dystrophy homolog