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Article

Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking.

Neurobiology of disease - 1 Nov 2004

Liu Ning, Yamauchi Junji, Shooter Eric M

Abstract excerpt

A characteristic feature of mouse models of the peripheral neuropathies caused by dominant mutations in peripheral myelin protein 22 (pmp22) is the appearance, in Schwann cells, of pmp22 aggregates. Using a set of dominant and recessive pmp22 mutations that cause human disease of varying degrees...

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Identifiers

PMID: 15474367
DOI: 10.1016/j.nbd.2004.07.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15474367-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking.PMID 15474367Read ↗

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