Article
Roles for PMP22 in Schwann cell cholesterol homeostasis in health and disease.
Biochemical Society transactions - 28 Aug 2024
Stefanski Katherine M, Wilkinson Mason C, Sanders Charles R
Abstract excerpt
Underexpression, overexpression, and point mutations in peripheral myelin protein 22 (PMP22) cause most cases of Charcot-Marie-Tooth disease (CMTD). While its exact functions remain unclear, PMP22 is clearly essential for formation and maintenance of healthy myelin in the peripheral nervous system. This review explores emerging evidence for roles of PMP22 in cholesterol homeostasis. First, we highlight...
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