DYSF Antibody

1. arginine-rich motif crucial for phosphatidylserine accumulation in sarcolemma repair PMID: 27641898
2. A novel duplication of 22 bases (c.897_918dup; p.Gly307Leufs5X) in the DYSF gene was identified in a family suffering from Miyoshi myopathy PMID: 29209666
3. This review detailed the different partners and function of dysferlin and positions the sarcolemma repair in normal and pathological conditions. [Review] PMID: 29480214
4. Immunofluorescence demonstrated that the percentage of complex I- and complex IV-deficient fibres was higher in patients with DYSF mutations than in age-matched controls. No clonally expanded mtDNA deletions were detected using long-range PCR in any of the analysed muscle fibres. Complex I and complex IV deficiency is higher in patients than age matched controls but patients do not have rearrangements of the mtDNA. PMID: 27666772
5. Data suggest that dysferlin exhibits modular architecture of 4 tertiary domains: 1) C2A, readily removed as solo domain; 2) midregion C2B-C2C-Fer-DysF, excised as intact module with several dynamic folding options; 3) C-terminal four-C2 domain module; 4) calpain-2-cleaved mini-dysferlinC72, particularly resistant to proteolysis. Missense variant L344P in muscular dystrophy patient largely escapes proteasomal surveillance. PMID: 28904177
6. dysferlin has membrane tubulating capacity and that it shapes the T-tubule system. PMID: 28104817
7. Human deltoid muscle biopsies of 5 Chilean dysferlinopathy patients exhibited the presence of muscular connexins (Cx40.1, Cx43 and Cx45). PMID: 27229680
8. This review suggested that the functions of dysferlin in vesicle trafficking and membrane remodeling in skeletal muscle. PMID: 27349407
9. DYSF expression is significantly upregulated in human masticatory mucosa during wound healing PMID: 28005267
10. DYSF mutations in Chinese patients clustered in the N-terminal region of the gene. Exonic rearrangements were found in 23% of patients with only one pathogenic mutation identified by Sanger sequencing or NGS. The novel mutations found in this study greatly expanded the mutational spectrum of dysferlinopathy. PMID: 27647186
11. This study showed that 4 patients with Inflammatory Myopathy associated with DYSF mutation. PMID: 26911292
12. results support a function for dysferlin as a calcium-sensing SNARE effector for membrane fusion events PMID: 27226605
13. These differences in the structural dynamics of the predicted binding site suggest that mutation R959W alters recognition dynamics of the inner DysF domain. PMID: 26806107
14. This study demonstrated that novel mutation of DYSF in patient with Dysferlinopathy in Iran. PMID: 26671124
15. By targeting DYSF premRNA introns harbouring differentially defined 3' splice sites (3' SS), we found that target introns encoding weakly defined 3' SSs were trans-spliced successfully in vitro in human myoblasts also in vivo in skeletal muscle of mice. PMID: 25904108
16. minigene strategy is an efficient tool for the detection of splicing defects in dysferlinopathies, which could allow for a better comprehension of splicing defects due to mutations and could improve prediction tools evaluating splicing defects PMID: 25312915
17. Dysferlin carrier frequency and the number of affected individuals at risk for dysferlinopathy could be higher than previously estimated. PMID: 24838345
18. Our study underlines clinical heterogeneity and a high proportion of novel mutations for dysferlin in Chinese patients affected with dysferlinopathy. PMID: 25591676
19. results provide the mechanism for dysferlin-mediated repair of skeletal muscle sarcolemma and identify ASM as a potential therapy for dysferlinopathy PMID: 24967968
20. These novel observations of conspicuous intermyofibrillar lipid and progressive adipocyte replacement in dysferlin-deficient muscles. PMID: 24685690
21. Our results suggest that dysferlin protein levels of
22. The crystal structure of the human dysferlin inner DysF domain shows that most of the pathogenic mutations are part of aromatic/arginine stacks that hold the domain in a folded conformation. PMID: 24438169
23. The tricomplex Fam65b-HDAC6-dysferlin is transient. PMID: 24687993
24. all dysferlin domains bind Ca(2+) albeit with varying affinity and stoichiometry PMID: 24461013
25. distinct membrane protein signature specific to patients with Diamond-Blackfan Anemia PMID: 24454878
26. Alternate splicing of the dysferlin C2A domain confers Ca(2+)-dependent and Ca(2+)-independent binding for membrane repair. PMID: 24239457
27. These data suggest that although dysferlin is not an integral part of the dystrophin-glycoprotein complex, its expression is altered in Duchenne muscular dystrophy. PMID: 24902367
28. our results identify dysferlin as a newly identified binding partner of AbetaPP PMID: 24091414
29. We described 8 Chinese patients with dysferlinopathy PMID: 23254335
30. a direct interaction of dysferlin with Trim72/MG53, AHNAK, cytoplasmic dynein, myomesin-2 and calsequestrin-1, but not with caveolin-3 or dystrophin, is reported. PMID: 23792176
31. Data indicate that dysferlin, otoferlin, and myoferlin do not merely passively adsorb to membranes but actively sculpt lipid bilayers. PMID: 23859474
32. dysferlin is involved in regulating cellular interactions and has a role in inflammatory cells PMID: 23558685
33. study reported 4 novel mutations and 2 cases of dysferlinopathy in which patients exhibited a reduction of sarcolemmal dysferlin in conjunction with cytoplasmic retention PMID: 23519732
34. Dysferlin is subject to enzymatic cleavage releasing a synaptotagmin-like fragment with a specialized protein- or phospholipid-binding role for muscle membrane repair. PMID: 23516275
35. Dysferlin-peptides reallocate mutated dysferlin thereby restoring function PMID: 23185377
36. we observed 40 Japanese patients in 36 families with limb girdle muscular dystrophy 2B in whom dysferlin mutations were confirmed PMID: 23243261
37. provide proof of principle that AAV5 mediated delivery of dysferlin is a highly promising strategy for treatment of dysferlinopathies and has far-reaching implications for the therapeutic delivery of other large genes PMID: 22720081
38. In Koreans with dysferlinopathy, DYSF mutations appeared to cluster in the N-terminal region. PMID: 22297152
39. The aim of the study was to determine whether dysferlin expression in peripheral blood monocytes correlates with that in skeletal muscle. PMID: 22194990
40. C2 domains mediate high affinity self-association of dysferlin in a parallel homodimer PMID: 22110769
41. Studies indicate that dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein. PMID: 21556485
42. these data further support the claims that dysferlin not only mediates membrane repair but also trafficking of client proteins, ultimately, help bridging dysferlinopathies to aberrant membrane signaling. PMID: 22037454
43. This study presents the first direct and conclusive evidence that an amount of Dysferlin
44. Data suggest dysferlin has an important function in the internal membrane systems of skeletal muscle, involved in calcium homeostasis and excitation-contraction coupling. PMID: 22043020
45. A simple and rapid screening method to detect hot spot mutations in the dysferlin gene is essential for the diagnosis of dysferlinopathy. PMID: 21173544
46. A novel mutation in exon 47 (c.5289G>C) of the dysferlin gene in the heterozygous state, causing an amino acid change (p.Glu1763Asp), was detected in 2 patients PMID: 21658164
47. A new computational method establishes an increase in the mean average prediction precision for dysferlin protein partners, which is important for new targeted therapies. PMID: 21280221
48. MG53, annexin A1, and dysferlin localize to the t-tubule network and show enriched labeling at longitudinal tubules of the t-system in overstretch PMID: 21412170
49. Dysferlin function in intracellular vesicles and its implication in muscle membrane resealing. PMID: 21119217
50. B cell depletion with rituximab/dysferlin monoclonal antibody has been proved useful in the treatment of two patients affected by muscular dystrophy. There may be a possible role for B cells in the immune system involvement of this muscle disorder. PMID: 20618995

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HGNC: 3097

OMIM: 253601

KEGG: hsa:8291

STRING: 9606.ENSP00000386881

UniGene: Hs.252180