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Article

Subcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22.

Glia - 1 Nov 2020

Zhou Ye, Borchelt David, Bauson Jodi C, Fazio Sergio, Miles Joshua R, Tavori Hagai, Notterpek Lucia

Abstract excerpt

Abnormalities of the peripheral myelin protein 22 (PMP22) gene, including duplication, deletion and point mutations are a major culprit in Type 1 Charcot-Marie-Tooth (CMT) diseases. The complete absence of PMP22 alters cholesterol metabolism in Schwann cells, which likely contributes to myelination deficits. Here, we examined the subcellular trafficking of cholesterol in distinct models of PMP22-linked...

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Identifiers

PMID: 32511821
DOI: 10.1002/glia.23840

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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