Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22.

Proceedings of the National Academy of Sciences of the United States of America - 8 Jan 2002

Tobler Andreas R, Liu Ning, Mueller Lukas, Shooter Eric M

Abstract excerpt

Mutations in the gene encoding the peripheral myelin protein 22 (PMP22), a tetraspan protein in compact peripheral myelin, are one of the causes of inherited demyelinating peripheral neuropathy. Most PMP22 mutations alter the trafficking of the PMP22 protein in Schwann cells, and this different trafficking has been proposed as the underlying mechanism of the disease. To explore this problem further, we compared...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blotting, Western
Share to Chromatography, Gel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to COS Cells

Share to Dimerization

Share to Myelin Proteins

Share to Peripheral Nervous System Diseases

Share to Precipitin Tests

Share to Transfection

Source

Open in PubMed Open full text

Identifiers

PMID: 11752407
DOI: 10.1073/pnas.012593399
PMCID: PMC117586

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22.PMID 11752407Read ↗

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 ↗

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

Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins.Semantic proximity Read ↗

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

Glycosylation limits forward trafficking of the tetraspan membrane protein PMP22.Semantic proximity Read ↗

Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina.Semantic proximity Read ↗

Peripheral myelin protein 22: facts and hypotheses.Semantic proximity Read ↗

Many facets of the peripheral myelin protein PMP22 in myelination and disease.Semantic proximity Read ↗

Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathySemantic proximity Read ↗

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

Peripheral myelin protein 22 alters membrane architecture.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.