Fktn Antibody

1. Rapamycin treatment in fukutin-deficient mouse model of dystroglycanopathy delays/reduces disease burden. PMID: 27257474
2. Fktn deficient mice express moderate to severe muscular dystrophy; glycosylated alpha-dystroglycan has a unique role in muscle regeneration in these mice PMID: 26751696
3. Mouse fukutin deletion impairs dystroglycan processing, recapitulates muscular dystrophy and is relevant to modifications near the dystroglycan O-mannose sugar. PMID: 22922256
4. disease-causing missense mutations cause abnormal folding and localization of fukutin protein PMID: 22275357
5. 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. PMID: 20117215
6. Fukuyama-type congenital muscular dystrophy (FCMD) murine ortholog, Fcmd is 90% identical to that of its human counterpart PMID: 12408965
7. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the FCMD locus, in three Tunisian patients PMID: 12467726
8. 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. PMID: 15351499
9. The basal lamina of the cortical surface in chimeras showed defects at E14, coinciding with the earliest time point at which ectopia were detected PMID: 15907289
10. 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. PMID: 17326765

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KEGG: mmu:246179

STRING: 10090.ENSMUSP00000061489

UniGene: Mm.247210