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

Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability.

PloS one - 1 Jan 2023

Sutinen Aleksi, Paffenholz Dirk, Nguyen Giang Thi Tuyet, Ruskamo Salla, Torda Andrew E, Kursula Petri

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral polyneuropathy in humans, and its subtypes are linked to mutations in dozens of different genes, including the gene coding for ganglioside-induced differentiation-associated protein 1 (GDAP1). The main GDAP1-linked CMT subtypes are the demyelinating CMT4A and the axonal CMT2K. Over a hundred different missense CMT mutations in the GDAP1...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nerve Tissue Proteins

Share to Phylogeny

Share to Protein Stability

Source

Open in PubMed Open full text

Identifiers

PMID: 37058526
DOI: 10.1371/journal.pone.0284532
PMCID: PMC10104300

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

Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability.PMID 37058526Read ↗

Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stabilitySemantic proximity Read ↗

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.Semantic proximity Read ↗

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1Semantic proximity Read ↗

Structure of the complete dimeric human GDAP1 core domain provides insights into ligand binding and clustering of disease mutationsSemantic proximity Read ↗

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.Semantic proximity Read ↗

Conformational analysis of membrane-proximal segments of GDAP1 in a lipidic environment using synchrotron radiation suggests a mode of assembly at the mitochondrial outer membraneSemantic proximity Read ↗

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.Semantic proximity Read ↗

A role for the GDAP1 gene in the molecular pathogenesis of Charcot‑Marie‑Tooth disease.Semantic proximity Read ↗

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.Semantic proximity Read ↗

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.Semantic proximity Read ↗

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.Semantic proximity Read ↗

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