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

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

Journal of neurology - 1 Oct 2010

Lee Yi-Chung, Lin Kon-Ping, Chang Ming-Hong, Liao Yi-Chu, Tsai Ching-Piao, Liao Kwong-Kum, Soong Bing-Wen

Abstract excerpt

Mutations in MPZ, which encodes myelin protein zero (P(0)), may lead to different subtypes of Charcot-Marie-Tooth disease (CMT). The aim of this study was to characterize the cellular manifestations of various MPZ mutations associated with CMT1, Dejerine-Sottas syndrome (DSS) and CMT2, and to correlate their cellular and clinical phenotypes. Nine P(0) mutants associated with CMT1 (P(0)S63F, R98H, R277S, and...

Read the complete abstract on PubMed

Topics

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

Share to Cell Adhesion
Share to Charcot-Marie-Tooth Disease

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

Share to CHO Cells

Share to Cricetulus

Share to Endoplasmic Reticulum

Share to Golgi Apparatus

Share to Hereditary Sensory and Motor Neuropathy

Share to Myelin P0 Protein

Source

Identifiers

PMID: 20461396
DOI: 10.1007/s00415-010-5590-8

Genes

MPZ

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

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.PMID 20461396Read ↗

MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.Semantic proximity Read ↗

Phenotypic clustering in MPZ mutations.Semantic proximity Read ↗

Clinical and cellular characterization of two novel MPZ mutations, p.I135M and p.Q187PfsX63.Semantic proximity Read ↗

Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.Semantic proximity Read ↗

Complete Loss of Myelin protein zero (MPZ) in a patient with a late onset Charcot-Marie-Tooth (CMT).Semantic proximity Read ↗

Peripheral neuropathies caused by mutations in the myelin protein zero.Semantic proximity Read ↗

An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins.Semantic proximity Read ↗

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.Semantic proximity Read ↗

Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.Semantic proximity Read ↗

Axonal and demyelinating forms of the MPZ Thr124Met mutation.Semantic proximity Read ↗

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.Semantic proximity Read ↗

Structural bases for the Charcot-Marie-Tooth disease induced by single amino acid substitutions of myelin protein zero.Semantic proximity Read ↗

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