Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) (DYSF) ELISA Kits

Zebrafish Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) (DYSF) interaction partners

1. arginine-rich motif crucial for phosphatidylserine accumulation in sarcolemma repair

2. zebrafish dysferlin expression is involved in stabilizing muscle structures and its downregulation causes muscle disorganization.

Mouse (Murine) Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) (DYSF) interaction partners

1. To maximize clinical efficacy, dysferlin-deficient mice were treated systemically to target all muscles through the vasculature for efficacy and safety studies. Mice were evaluated at multiple time points between 4 and 13 months post treatment for dysferlin expression and functional improvement using magnetic resonance imaging and magnetic resonance spectroscopy and membrane repair.

2. While halofuginone did not affect patch-repair-complex key proteins, it further enhanced Syt-7 levels and its spread across the cytosol in dysf-/- myofibers and muscle tissue, and increased its co-localization with lysosomes. Together, the data imply a novel role for halofuginone in membrane-resealing events with Syt-7 possibly taking part in these events.

3. 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.

4. dysferlin has membrane tubulating capacity and that it shapes the T-tubule system.

5. 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.

6. 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.

7. 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.

8. 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.

9. Dysferlin does not regulate cardiac voltage-dependent ion channels in cardiomyocytes.

10. 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

11. results provide the mechanism for dysferlin-mediated repair of skeletal muscle sarcolemma and identify ASM as a potential therapy for dysferlinopathy

12. These novel observations of conspicuous intermyofibrillar lipid and progressive adipocyte replacement in dysferlin-deficient muscles.

13. 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.

14. Dysferlin, a calcium-triggered exocytotic membrane repair protein, is required for the cytoprotective effects of TRAF2-mediated signaling after myocardial ischemia reperfusion injury.

15. Alternate splicing of the dysferlin C2A domain confers Ca(2+)-dependent and Ca(2+)-independent binding for membrane repair.

16. these findings demonstrate the importance of dysferlin and myoferlin for transverse tubule function and in the genesis of muscular dystrophy.

17. Data indicate that bone marrow transplantation (BMT) improved functional and histological outcome in the A/J Dysfprmd mouse model.

18. 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.

19. Dysferlin-peptides reallocate mutated dysferlin thereby restoring function

20. The results suggest that decreased myotube fusion in dysferlin deficiency is attributable to intrinsic inflammatory activation and can be improved using anti-inflammatory mediators.

Human Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) (DYSF) interaction partners

1. As muscular biopsy showed inflammatory infiltrates, polymyositis was suspected and immunosuppressive treatment was initiated. However, clinical improvement could not be achieved. Gene sequencing of the DYSF-gene showed a previously unreported homozygous mutation.

2. two compound heterozygous mutations of the DYSF gene probably underlie the limb-girdle muscular dystrophy 2B in the two pedigrees

3. DYSF mutation is associated with Neuromuscular Disease.

4. arginine-rich motif crucial for phosphatidylserine accumulation in sarcolemma repair

5. A novel duplication of 22 bases (c.897_918dup; p.Gly307Leufs5X) in the DYSF gene was identified in a family suffering from Miyoshi myopathy

6. This review detailed the different partners and function of dysferlin and positions the sarcolemma repair in normal and pathological conditions. [Review]

7. 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.

8. 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.

9. dysferlin has membrane tubulating capacity and that it shapes the T-tubule system.

10. Human deltoid muscle biopsies of 5 Chilean dysferlinopathy patients exhibited the presence of muscular connexins (Cx40.1, Cx43 and Cx45).

11. This review suggested that the functions of dysferlin in vesicle trafficking and membrane remodeling in skeletal muscle.

12. DYSF expression is significantly upregulated in human masticatory mucosa during wound healing

13. 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.

14. This study showed that 4 patients with Inflammatory Myopathy associated with DYSF mutation.

15. results support a function for dysferlin as a calcium-sensing SNARE effector for membrane fusion events

16. These differences in the structural dynamics of the predicted binding site suggest that mutation R959W alters recognition dynamics of the inner DysF domain.

17. This study demonstrated that novel mutation of DYSF in patient with Dysferlinopathy in Iran.

18. We conclude that two independent mutations in ALMS1 and DYSF cause CRD and muscular dystrophy in the studied consanguineous Israeli Arab family.

19. 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.

20. 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

Rabbit Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) (DYSF) interaction partners

1. C2 domains mediate high affinity self-association of dysferlin in a parallel homodimer

Cow (Bovine) Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) (DYSF) interaction partners

1. dysferlin mediates lysosome fusion to the plasma membrane and thereby leads to ASMase translocation, membrane raft clustering and NADPH oxidase activation in coronary arterial endothelial cells, which consequently results in endothelial dysfunction