Use your antibodies-online credentials, if available.
Keine Produkte auf Ihrer Vergleichsliste.
Ihr Warenkorb ist leer.
Weitere Synonyme anzeigen
Wählen Sie die gewünschte Spezies
Fukutin and FKRP have functions that affect ocular development in zebrafish independently of dystroglycan.
Muscle pathology in embryos lacking Fukutin (zeige FKTN Proteine) or FKRP is different from loss of dystroglycan; knockdown of Fukutin (zeige FKTN Proteine) 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
This literature review revealed that pathogenic mutations in the FKRP gene in Asian LGMD2I patients are compound heterozygous rather than homozygous.
Next generation and Sanger sequencing were performed for I-2. Heterozygous FKRP mutations were identified in exon 4: c.1167_1168delGC, p.Gly391Leufs *72 and c.501_502GT>CC, p.Arg167Ser, p.Cys168Arg
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.
This study have demonstrated that the clinical heterogeneity in LGMD2I patients, homozygous for FKRP c.826C>A, cannot be explained by histopathological alterations, levels of alpha-DG hypoglycosylation or laminin alpha2 depletion.
Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice
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 (zeige FKTN Proteine) 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 (zeige GLG1 Proteine), between the myofibrils in human rectus femoris muscle fibres.
This study demonstrated that the Expression of glycosylated alpha-dystroglycan in newborn skeletal and cardiac muscles with FKRP mutation mice.
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 (zeige FKTN Proteine)-null embryos, and maintenance of BM function may require fukutin (zeige FKTN Proteine)-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 (zeige DMD Proteine)-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