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BIN1 modulation in vivo rescues dynamin-related myopathy

Archive ouverte | Lionello, Valentina Maria | CCSD

International audience. The mechanoenzyme dynamin 2 (DNM2) is crucial for intracellular organization and trafficking. DNM2 is mutated in dominant centronuclear myopathy (DNM2-CNM), a muscle disease characterized by ...

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Archive ouverte | Tasfaout, Hichem | CCSD

Centronuclear myopathies (CNM) are non-dystrophic muscle diseases for which no effective therapy is currently available. The most severe form, X-linked CNM, is caused by myotubularin 1 (MTM1) loss-of-function mutations, while the ...

Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes

Archive ouverte | Rabai, Aymen | CCSD

International audience. Genome editing with the CRISPR/Cas9 technology has emerged recently as a potential strategy for therapy in genetic diseases. For dominant mutations linked to gain-of-function effects, allele-...

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