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Fukutin and FKRP have functions that affect ocular development in zebrafish independently of dystroglycan.
Muscle pathology in embryos lacking Fukutin (show FKTN Proteins) or FKRP is different from loss of dystroglycan; knockdown of Fukutin (show FKTN Proteins) or FKRP leads to a notochord defect and a perturbation of laminin expression before muscle degeneration.
Zebrafish are a useful animal model to reveal the mechanism of muscular dystrophiescaused by mutations in FKRP gene.
It was found that downregulating FKRP in the zebrafish results in embryos which develop a range of abnormalities reminiscent of the developmental defects observed in human muscular dystrophies associated with mutations in FKRP
The 13 novel mutations of FKRP significantly expanded the mutation spectrum of MDC1C and LGMD2I, and the different founder mutations indicate the ethnic difference in FKRP mutations.
Fukutin (show FKTN Proteins) and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol.
Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication.
This study demonistrated that the higher frequency of LGMD2I with cardiomyopathy in mutation of FKRP in Taiwanese patients.
FKRP co-localises with the middle-to-trans-Golgi marker MG160 (show GLG1 Proteins), between the myofibrils in human rectus femoris muscle fibres.
Mutations in FKRP lead to a glycosylation defect and subsequently downregulation of alpha-dystroglycan which constitutes an essential component of the proteoglycan (show Vcan Proteins)-dystrophin (show DMD Proteins) complex.
Study revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP encoding fukutin-related-protein detected the common homozygous c.826 C>A (p.Leu276Ile) mutation.
Two novel heterozygous mutations (c.208T>A and c.1030G>T) in the FKRP gene were identified in Chinese brothers with progressive shoulder and pelvic muscle weakness
This study identified FKRP mutations on both alleles in 88 patients from 69 families with Limb Girdle Muscular Dystrophy Type 2I.
two siblings carrying a homozygous mutation in the start codon of FKRP that is likely to result in a loss of functional FKRP protein. The clinical phenotype of the patients was consistent with Walker-Warburg syndrome
Reduced Fkrp levels in skeletal muscle are associated with a progressive muscular dystrophy
FKRP mutations are associated with muscular dystrophy.
a reduction in Fkrp influences the ability of tissue-specific forms of alpha-dystroglycan to direct the deposition of several laminin isoforms
investigation of the functional roles of FKRP in muscular dystrophies; FKRP is essential for the functional glycosylation of alpha-dystroglycan;both the mutation itself and the levels of FKRP expression are equally critical for the survival of the animals
Basement membrane (BM) fragility may underlie abnormal phenotypes in fukutin (show FKTN Proteins)-null embryos, and maintenance of BM function may require fukutin (show FKTN Proteins)-mediated glycosylation of alpha-dystroglycan early in embryonic development.
data offer the first evidence of a fukutin-related protein (FKRP) complex in muscle and suggest that FKRP may influence the glycosylation status of dystroglycan from within the sarcolemmal dystrophin (show DMD Proteins)-glycoprotein complex
results suggest the generation of a mouse model for FKRP related muscular dystrophy requires a knock-down rather than a knock-in strategy in order to give rise to a disease phenotype.
This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
fukutin related protein
, fukutin-related protein
, fukutin-related protein-like