Article
A novel HSPB1S139F mouse model of Charcot-Marie-Tooth Disease.
Prostaglandins & other lipid mediators - 1 Dec 2023
Espinoza Keila S, Hermanson Kyra N, Beard Cameron A, Schwartz Nicholas U, Snider Justin M, Low Benjamin E, Wiles Michael V, Hannun Yusuf A, Obeid Lina M, Snider Ashley J
Abstract excerpt
Charcot-Marie-Tooth Disease (CMT) is a commonly inherited peripheral polyneuropathy. Clinical manifestations for this disease include symmetrical distal polyneuropathy, altered deep tendon reflexes, distal sensory loss, foot deformities, and gait abnormalities. Genetic mutations in heat shock proteins have been linked to CMT2. Specifically, mutations in the heat shock protein B1 (HSPB1) gene encoding for heat...
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