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 PMID: 24488599
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 PMID: 21522182
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