Recombinant Mouse Dysferlin (Dysf), partial

1. Our data suggest that dysferlin modulates SR Ca(2+) release in skeletal muscle, and that in its absence osmotic shock injury causes increased RyR1-mediated Ca(2+) leak from the SR into the cytoplasm. PMID: 28568606
2. dysferlin has membrane tubulating capacity and that it shapes the T-tubule system. PMID: 28104817
3. These results provide one mechanism by which the C57BL/6J background intensifies dysferlinopathy, giving rise to a more severe form of muscular dystrophy in the Dysf(B6) mouse model through increased membrane leak and inflammation. PMID: 27070822
4. dysferlin-deficient cardiomyocytes showed slower Ca2+ re-sequestration. Dysferlin deficiency blunted the beta-adrenergic effect on relaxation and pumping function of ex vivo working hearts. PMID: 26415898
5. Using both naturally occurring and genetically engineered dysferlin-deficient mice, the authors demonstrated that loss of dysferlin confers increased susceptibility to coxsackievirus infection and myocardial damage. PMID: 26073173
6. 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
7. Dysferlin does not regulate cardiac voltage-dependent ion channels in cardiomyocytes. PMID: 26112643
8. results show that dysferlin exerts protective effects on the fukutin(Hp/-) FCMD mouse model, and the (dysferlin(sjl/sjl): fukutin(Hp/-)) mice will be useful as a novel model for a recently proposed antisense oligonucleotide therapy for FCMD PMID: 25198651
9. These novel observations of conspicuous intermyofibrillar lipid and progressive adipocyte replacement in dysferlin-deficient muscles. PMID: 24685690
10. Laser-wounding induced rapid recruitment of local dysferlin-containing sarcolemma, formation of stable dysferlin accumulations surrounding lesions, endocytosis of dysferlin, and formation of large cytoplasmic vesicles from distal regions of the fiber. PMID: 24784578
11. Dysferlin, a calcium-triggered exocytotic membrane repair protein, is required for the cytoprotective effects of TRAF2-mediated signaling after myocardial ischemia reperfusion injury. PMID: 24572254
12. Alternate splicing of the dysferlin C2A domain confers Ca(2+)-dependent and Ca(2+)-independent binding for membrane repair. PMID: 24239457
13. these findings demonstrate the importance of dysferlin and myoferlin for transverse tubule function and in the genesis of muscular dystrophy. PMID: 24177035
14. Data indicate that bone marrow transplantation (BMT) improved functional and histological outcome in the A/J Dysfprmd mouse model. PMID: 23777246
15. discovery of dysferlin as a t-tubule protein that stabilizes stress-induced Ca(2+) signaling offers a therapeutic avenue for limb girdle muscular dystrophy 2B and Miyoshi myopathy patients. PMID: 24302765
16. Dysferlin-peptides reallocate mutated dysferlin thereby restoring function PMID: 23185377
17. The results suggest that decreased myotube fusion in dysferlin deficiency is attributable to intrinsic inflammatory activation and can be improved using anti-inflammatory mediators. PMID: 22560623
18. Mice with dystrophin and dysferlin double mutations develop mixed sarcomas with variable penetrance and latency. PMID: 22682622
19. C2 domains mediate high affinity self-association of dysferlin in a parallel homodimer PMID: 22110769
20. We observed that dysferlin-deficient muscles recovered the tetanic force production to the same extent as their WT counterparts following a saponin exposure. Data suggest that dysferlin is unlikely involved in repairing saponin-induced membrane damage. PMID: 21941430
21. 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
22. Data show that dysferlin is not only a membrane repair protein but also important for muscle membrane maintenance and integrity. PMID: 21079765
23. Dysferlin function in intracellular vesicles and its implication in muscle membrane resealing. PMID: 21119217
24. Using dysferlin-deficient mouse myocytes, demonstrate that membrane blebbing in skeletal muscle myotubes in response to hypotonic shock requires dysferlin. PMID: 20558759
25. Dysf deficiency led to increased expression of complement factors in muscle, while muscle-specific transgenic expression of dysf normalized the expression of complement factors and eliminated the dystrophic phenotype present in dysf-null mice. PMID: 21060153
26. loss of dysferlin in endothelial cells resulted in deficient adhesion followed by growth arrest and impaired angiogenic response PMID: 20724702
27. Data show that components of the inflammasome pathway are specifically up-regulated and activated in dysferlin-deficient but not in dystrophin-deficient and normal muscle, and suggest that muscle cells can actively participate in inflammasome formation. PMID: 20413686
28. Our goal was to define a functional signature for skeletal muscles that lack dysferlin PMID: 20544921
29. In the absence of dysferlin, cardiomyocyte membrane damage occurs and is localized to the intercalated disk and sarcoplasm PMID: 19875504
30. Dysferlin-null myofibers can survive contraction-induced injury for at least 3 days but are subsequently eliminated by necrosis and inflammation. Myogenesis to replace lost fibers does not appear to be significantly compromised in dysferlin-null mice. PMID: 19923419
31. Data show that restoration of dysferlin in skeletal muscle fibers is sufficient to rescue Dysf-deficient mice, although its mild overexpression does not appear to functionally enhance membrane repair in other models of muscular dystrophy. PMID: 19834057
32. SJL/J mice show spontaneous myopathy and have a mutation in the dysferlin gene, a gene which is also mutated in human limb-girdle muscular dystrophy type 2B (LGMD2B) PMID: 11891182
33. Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. PMID: 11959863
34. Dysferlin-null mice maintain a functional dystrophin-glycoprotein complex but nevertheless develop a progressive muscular dystrophy PMID: 12736685
35. dysferlin binds to annexins A1 and A2 and has a role in Ca2+-dependent repair of sarcolemmal injury through a process of vesicle fusion PMID: 14506282
36. Data show that affixin is a dysferlin binding protein that colocalizes with dysferlin at the sarcolemma of normal skeletal muscle. PMID: 15835269
37. Overexpression of CAR may lead to physiological dysfunction by impairing sarcolemmal repair (through dysferlin deficiency). PMID: 17148677
38. Study examined the degradation of normal and mutant (L1341P) dysferlin; mutant dysferlin aggregates in the ER-stimulated autophagosome formation to engulf them via activation of ER stress-eIF2alpha phosphorylation pathway. PMID: 17331981
39. dysferlin-mediated membrane repair is important for maintaining membrane integrity of cardiomyocytes, particularly under conditions of mechanical stress PMID: 17607357
40. Dysf was detected immunohistochemically in wild type mice, but not knockout mice. PMID: 17612291
41. These data suggest that disturbances in dysferlin as well as Z-line proteins and transcription factors particularly under mechanical stress cause cardiomyopathy. PMID: 17828519
42. Caveolin-1 or Caveolin-3, but not specific caveolin mutants, inhibit endocytosis of dysferlin through a clathrin-independent pathway colocalizing with internalized glycosylphosphatidylinositol-anchored proteins. PMID: 18096699
43. Data show that dysferlin-null muscles produce higher contractile torque, and are equally susceptible to initial injury but recover from injury more slowly. PMID: 18815587
44. Gadofluorine M-enhanced MR imaging may be of value in monitoring dysferlin-deficient muscular dystrophy disease progression in this animal model and could prove to be a useful tool in following the course of chronic muscle diseases in humans. PMID: 19001151
45. Results suggest that dysferlin functions as a membrane fusion protein in the wound healing system of plasma membrane, and that the defect in dysferlin causes insufficient membrane fusion resulting in accumulation of vesicles. PMID: 19218742
46. Muscle regeneration is attenuated in a mouse model of dysferlinopathy. PMID: 19286669
47. The presence or absence of dysferlin does not have any consequences for the triggering or effector phase of experimental autoimmune encephalomyelitis. PMID: 19301206

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KEGG: mmu:26903

STRING: 10090.ENSMUSP00000080579

UniGene: Mm.220982