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

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

Structure (London, England : 1993) - 2 Nov 2023

Sakakura Masayoshi, Tanabe Mikio, Mori Masaki, Takahashi Hideo, Mio Kazuhiro

Abstract excerpt

Myelin protein zero (MPZ or P0) is a transmembrane protein which functions to glue membranes in peripheral myelin. Inter-membrane adhesion is mediated by homophilic interactions between the extracellular domains (ECDs) of MPZ. Single amino acid substitutions in an ECD cause demyelinating neuropathy, Charcot-Marie-Tooth disease (CMT), with unknown mechanisms. In this study, by using a novel assay system...

Topics

Humans
Charcot-Marie-Tooth Disease
Myelin P0 Protein
Amino Acid Substitution
Phenotype
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37699394
DOI: 10.1016/j.str.2023.08.016

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Structural bases for the Charcot-Marie-Tooth disease induced by single amino acid substitutions of myelin protein zero.PMID 37699394Read ↗

Structural bases for the Charcot–Marie–Tooth disease induced by single amino acid substitutions of myelin protein zeroSemantic proximity Read ↗

Structural context of homomeric interactions in the lg domain of the MPZ (P0) myelin adhesion protein and relation to Charcot-Marie-Tooth disease phenotype variantsSemantic proximity Read ↗

Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Molecular structure and function of myelin protein P0 in membrane stackingSemantic proximity Read ↗

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.Semantic proximity Read ↗

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

Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tailSemantic proximity Read ↗

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

Peripheral myelin protein 22 kDa and protein zero: domain specific trans-interactions.Semantic proximity Read ↗

Phenotypic clustering in MPZ mutations.Semantic proximity Read ↗

How Does Protein Zero Assemble Compact Myelin?Semantic proximity Read ↗

In silico and in vitro effects of the I30T mutation on myelin protein zero instability in the cell membrane.Semantic proximity Read ↗

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