Dysferlinopathies are rare muscular dystrophies caused by loss-of-function variants in DYSF, which encodes dysferlin, leading to progressive muscle weakness. Although dysferlin is known for its role in membrane repair, emerging evidence suggests additional functions in membrane remodeling and T-tubule organization. The...
Alice Moncheaux, Emma Lafabrie, P. Goetz-Reiner et al.· Disease Models & Mechanisms· 1 citation
Repurposing of drugs to treat rare diseases (RDs) is vital, but the translational gap between clinical evidence and regulatory approval remains unquantified. Analysis of 47 clinical trials showed that 66 % of completed studies met their primary or key secondary endpoints. Nevertheless, only 39 % achieved marketing auth...
Wael Khazen, Arnaud Valent, Samantha Parker et al.· Drug Discovery Today· 0 citations
Genome Sequencing showed GS as a valuable and feasible approach allowing the elucidation of complex variants and the discovery of new pathogenic mechanisms in the context of myopathy, as part of a large national scale GS strategy piloted by the French Genomic Medicine Initiative.
Camille Verebi, A. Maino, C. Métay et al.· Genome Medicine· 0 citations
It is shown that the actomyosin cortex beneath the plasma membrane, regulated by Arp2/3 complexes containing Arpc5, acts as a gatekeeper for the membrane availability during t-tubule growth.
A. R. Pereira, Silvia Di Francescantonio, Ana da Rosa Soares et al.· Science Advances· 0 citations
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