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Article

Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Jun 1997

Notterpek L, Shooter E M, Snipes G J

Abstract excerpt

A nonconservative leucine to proline mutation in peripheral myelin protein 22 (PMP22) causes the Trembler-J (TrJ) neuropathy in mice and humans. The expression levels and localization of the PMP22 protein in the TrJ mouse have not been previously determined. The aim of our studies was to reevaluate the extent of myelin deficit in genotyped heterozygous and homozygous animals and to examine how the TrJ mutation...

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Identifiers

PMID: 9151736
PMCID: PMC6573524

Genes

PMP22

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy.PMID 9151736Read ↗

Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.Semantic proximity Read ↗

Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction.Semantic proximity Read ↗

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse.Semantic proximity Read ↗

Subcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22.Semantic proximity Read ↗

PMP22 Carrying the Trembler or Trembler-J Mutation Is Intracellularly Retained in Myelinating Schwann CellsSemantic proximity Read ↗

Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy.Semantic proximity Read ↗

Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.Semantic proximity Read ↗

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Trembler mouse carries a point mutation in a myelin gene.Semantic proximity Read ↗

PLP/DM20 expression and turnover in a transgenic mouse model of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.Semantic proximity Read ↗

Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele.Semantic proximity Read ↗

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