Cemdomespib Therapy Slows the Progression of Neuromuscular Weakness and Demyelination in the R75W-Connexin 32 Animal Model of Charcot-Marie-Tooth 1X Disease.

ABSTRACT: Mutations in connexin 32 (Cx32) are a common cause of Charcot-Marie-Tooth 1X (CMT1X) disease, an inherited peripheral neuropathy characterized by progressive neuromuscular weakness and demyelination. There are no approved pharmacologic therapies for CMT1X, and identifying new treatments that slow the onset and severity of neuromuscular decline may aid disease management. Cemdomespib is an orally bioavailable small molecule that improved demyelination and neuromuscular junction (NMJ) morphology in mice lacking Cx32 expression. However, whether a similar efficacy may manifest in models of CMT1X arising from Cx32 mutations that cause the organellar accumulation of the protein was unclear. Additionally, it was unclear whether cemdomespib therapy slowed the rate of demyelination/NMJ degeneratio

SUBMITTER: Lang RM 

PROVIDER: S-EPMC11729424 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature