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

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

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

2. 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.

3. dysferlin-deficient cardiomyocytes showed slower Ca2 (show CA2 ELISA Kits)+ re-sequestration. Dysferlin deficiency blunted the beta-adrenergic effect on relaxation and pumping function of ex vivo working hearts.

4. 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.

5. 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.

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

7. results show that dysferlin exerts protective effects on the fukutin (show FKTN ELISA Kits)(Hp/-) FCMD (show FKTN ELISA Kits) mouse model, and the (dysferlin(sjl/sjl): fukutin (show FKTN ELISA Kits)(Hp/-)) mice will be useful as a novel model for a recently proposed antisense oligonucleotide therapy for FCMD (show FKTN ELISA Kits)

8. results provide the mechanism for dysferlin-mediated repair of skeletal muscle sarcolemma and identify ASM (show SMPD1 ELISA Kits) as a potential therapy for dysferlinopathy

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

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.

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

1. 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.

2. Data suggest that dysferlin exhibits modular architecture of 4 tertiary domains: 1) C2A, readily removed as solo domain; 2) midregion C2B-C2C-Fer (show FER ELISA Kits)-DysF, excised as intact module with several dynamic folding options; 3) C-terminal four-C2 domain module; 4) calpain-2 (show CAPN2 ELISA Kits)-cleaved mini-dysferlinC72, particularly resistant to proteolysis. Missense variant L344P in muscular dystrophy patient largely escapes proteasomal surveillance.

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

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

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

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

7. 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.

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

9. results support a function for dysferlin as a calcium-sensing SNARE (show NAPA ELISA Kits) effector for membrane fusion events

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

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 (show SMPD1 ELISA Kits) translocation, membrane raft clustering and NADPH oxidase (show NOX1 ELISA Kits) activation in coronary arterial endothelial cells, which consequently results in endothelial dysfunction