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

The PMP22 gene and its related diseases.

Molecular neurobiology - 1 Apr 2013

Li Jun, Parker Brett, Martyn Colin, Natarajan Chandramohan, Guo Jiasong

Abstract excerpt

Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin of the peripheral nervous system. Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % of all patients with inherited peripheral neuropathies, including Charcot-Marie-Tooth type-1A (CMT1A) with trisomy of PMP22, hereditary neuropathy with liability to...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Charcot-Marie-Tooth Disease
Share to PMP22 gene

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Myelin Proteins

Share to Peripheral Nervous System Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 23224996
DOI: 10.1007/s12035-012-8370-x
PMCID: PMC3594637

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The PMP22 gene and its related diseases.PMID 23224996Read ↗

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

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

Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves.Semantic proximity Read ↗

Clinical implications of peripheral myelin protein 22 for nerve compression and neural regeneration: a review.Semantic proximity Read ↗

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.Semantic proximity Read ↗

Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

Molecular pathogenesis of peripheral neuropathy.Semantic proximity Read ↗

Studies on the effects of altered PMP22 expression during myelination in vitroSemantic proximity Read ↗

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.Semantic proximity Read ↗

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

Molecular anatomy and genetics of myelin proteins in the peripheral nervous system.Semantic proximity Read ↗

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