Article
Charcot-Marie-Tooth disease variants of HSPB1 progressively alter neuromuscular signalling.
Disease models & mechanisms - 1 Aug 2026
Aolymat Iman, Barclay Jeff W
Abstract excerpt
Autosomal dominant variants in HSPB1 can cause type 2 Charcot-Marie-Tooth disease, a progressive neuromuscular disorder. HSPB1 is a small, ATP-independent chaperone that functions in protein folding, stabilisation and stress protection, as well as regulating intracellular processes such as organization of the cytoskeleton. How diverse variants in HSPB1 exert progressive neuromuscular defects is unclear. Using a...
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