FKRP Antibody

1. The FKRP-related disorders should be included as a differential diagnosis in Mexican patients with neuromuscular disorders and normal results on DMD gene deletion/duplication analysis. This and previous reports, along with data from the main genotype databases, collectively suggest that in Mexico the FKRP-related disorders are due to the p.(Asn463Asp) and the common European p.(Leu276Ile) pathogenic variants. PMID: 29065428
2. 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. PMID: 29416295
3. This literature review revealed that pathogenic mutations in the FKRP gene in Asian LGMD2I patients are compound heterozygous rather than homozygous. PMID: 28931339
4. 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 PMID: 28629604
5. 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. PMID: 29477842
6. 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. PMID: 28479227
7. Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice PMID: 27711214
8. 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. PMID: 27439679
9. Fukutin and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol. PMID: 26923585
10. Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication. PMID: 26810512
11. This provide a new mouse model of Limb-Girdle Muscular Dystrophy Type 2I homozygous for the Common L276I Mutation. PMID: 26574668
12. This study demonistrated that the higher frequency of LGMD2I with cardiomyopathy in mutation of FKRP in Taiwanese patients. PMID: 23800702
13. FKRP co-localises with the middle-to-trans-Golgi marker MG160, between the myofibrils in human rectus femoris muscle fibres. PMID: 21886772
14. Mutations in FKRP lead to a glycosylation defect and subsequently downregulation of alpha-dystroglycan which constitutes an essential component of the proteoglycan-dystrophin complex. PMID: 21311896
15. 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. PMID: 21172462
16. 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 PMID: 21296577
17. This study identified FKRP mutations on both alleles in 88 patients from 69 families with Limb Girdle Muscular Dystrophy Type 2I. PMID: 20961759
18. 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 PMID: 20236121
19. our study confirms that typical clinical symptoms (calf hypertrophy, cardiac involvement, mild LGMD) of LGMD2I due the homozygous c.826C[A mutation, are rather frequent in Germany PMID: 19820980
20. Co-injection of fish or human FKRP mRNA along with the morpholino restored normal development and alpha-dystroglycan glycosylation. PMID: 19955119
21. Alteration of the secretion pathway by different mutations may contribute to wide variations in phenotypes associated with FKRP-related diseases such as muscular dystrophy. PMID: 19900540
22. FKRP mutations can result in muscular dystrophy with mental retardation & cerebellar cysts, adding structural brain defects to the FKRP mutation spectrum. Depletion of alpha-dystroglycan expression suggests FKRP involvement in its processing. PMID: 12654965
23. patients with mutations in the fukutin-related protein (FKPR) gene had congenital muscular dystrophy PMID: 12666124
24. particular FKRP mutations in the homozygous state induce structural and clinical neurological lesions in addition to muscular dystrophy PMID: 14652796
25. 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. PMID: 15213246
26. pathogenesis of congenital muscular dystrophies, severity is related to ability to transport protein to ER PMID: 15574464
27. a type of LGMD in the Hutterite population maps to chromosome 19q31-q33 and is due to homozygosity for the L276I mutation in FKRP. PMID: 15580560
28. Three siblings without clinical signs of muscle dystrophy, but with dilated cardiomyopathy have C826A Fukutin-related protein mutation. PMID: 15833432
29. A FKRP point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I. PMID: 15883334
30. Retention in the endoplasmic reticulum of FKRP is not the main mechanism of disease; this may instead relate to a disruption of the functional activity of this putative enzyme with its substrate(s) in the Golgi. PMID: 16055117
31. FKRP mutations are a frequent cause of limb-girdle muscular dystrophies. The degree of respiratory and cardiac insufficiency in patients did not correlate with the severity of muscle involvement. PMID: 16344347
32. A novel FKRP gene((c.823C>T (p.R275C) and c.948delC)mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I PMID: 17055682
33. We report a limb-girdle muscular dystrophy 2I family with three affected sisters and a highly variable clinical course. FKRP gene sequencing showed that all three sisters carried a nonsense paternal mutation (W225X). PMID: 17113772
34. two unrelated Mexican children with congenital muscular dystrophy who each have the identical, novel 1387A>G, N463D mutation. PMID: 17336067
35. 3 new FKRP mutations were identified: L322V, L489R and R275G. PMID: 17351538
36. Limb-girdle muscular dystrophy (LGMD) type 2I, caused by mutations in the fukutin-related protein gene (FKRP). PMID: 17446099
37. The unfolded protein response is activated in LGMD2I muscle biopsies in limb girdle muscular dystrophy type 2I. PMID: 17952692
38. severe dilated cardiomyopathy requiring heart transplantation in a homozygous p.Leu276Ile mutation in Fukutin-related protein gene (FKRP) PMID: 18060779
39. findings detected a homozygous mutation of the FKRP gene (826C>A) in two unrelated patients with limb-girdle muscular dystrophy 2I with necrotic myopathy with numerous rimmed vacuoles PMID: 18593008
40. In our population of LGMD2I patients, different mutations in the FKRP gene are associated with several secondary muscle protein reductions, and the deficiencies of alpha2-laminin and alpha-DG on sections are prevalent. PMID: 18645206
41. Data show that four sibs belonging to a second Tunisian LGMD2I family show variable cardiac involvement with FKRP gene mutations. PMID: 18671187
42. mutation spectrum associted with limb-girdle muscular dystrophy variability and serverity PMID: 19917824
43. Limb girdle muscular dystrophy 2I is a milder allelic variant of MDC1C. PMID: 11741828

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HGNC: 17997

OMIM: 606596

KEGG: hsa:79147

STRING: 9606.ENSP00000326570

UniGene: Hs.515493