Author

Jocelyn Laporte

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Open access Oct 2026

Increasing BIN1 or decreasing DNM2 worsens pathology in a mouse model of dysferlinopathy.

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

#protein folding Open access Sep 2026

DNM2–Charcot–Marie–Tooth neuropathy stems from disrupted Schwann cell function and shows limited therapeutic reversibility

These findings establish the Dnm2K562E/SC− mouse as a robust preclinical model, recapitulating key features of DNM2–Charcot–Marie–Tooth, and provide crucial insight into the biological and temporal constraints that must guide future therapeutic strategies for DNM2–Charcot–Marie–Tooth.

Marie Goret, T. Arbogast, Jocelyn Laporte · Brain Communications · 0 citations