Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

doi:10.1007/s10048-009-0183-3

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

Community

Back to search

Article

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Neurogenetics - 1 Oct 2009

Leal Alejandro, Huehne Kathrin, Bauer Finn, Sticht Heinrich, Berger Philipp, Suter Ueli, Morera Bernal, Del Valle Gerardo, Lupski James R, Ekici Arif, Pasutto Francesca, Endele Sabine, Barrantes Ramiro, Berghoff Corinna, Berghoff Martin, Neundörfer Bernhard, Heuss Dieter, Dorn Thomas, Young Peter, Santolin Lisa, Uhlmann Thomas, Meisterernst Michael, Sereda Michael Werner, Sereda Michael, Stassart Ruth Martha, Meyer zu Horste Gerd, Nave Klaus-Armin, Reis André, Rautenstrauss Bernd

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. All mendelian patterns of inheritance have been described. We identified a homozygous p.A335V mutation in the MED25 gene in an extended Costa Rican family with autosomal recessively inherited Charcot-Marie-Tooth neuropathy linked to the CMT2B2 locus in chromosome 19q13.3. MED25, also known as ARC92 and ACID1, is a subunit of...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Animals, Genetically Modified

Share to Cell Cycle Proteins

Share to Charcot-Marie-Tooth Disease

Share to Costa Rica

Share to Gene Dosage

Share to Mediator Complex

Share to Myelin Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 19290556
DOI: 10.1007/s10048-009-0183-3
PMCID: PMC2847151

Genes

MED25
ARC
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

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.PMID 19290556Read ↗

The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.Semantic proximity Read ↗

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Semantic proximity Read ↗

Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.Semantic proximity Read ↗

MED20 biallelic pathogenic variants cause a neurodevelopmental disorder altering both transcription activity and Transcription-Coupled Repair pathwaySemantic proximity Read ↗

Distinct roles of IDR and CCD domains control PABPN1 aggregation and enable therapeutic rescueSemantic proximity Read ↗

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.Semantic proximity Read ↗

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.Semantic proximity Read ↗

The Mediator Complex: Progress over the Past DecadeSemantic proximity Read ↗

Long term AAV2/9-mediated silencing of PMP22 prevents CMT1A disease in rats and validates skin biomarkers as treatment outcome measureSemantic proximity Read ↗

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.Semantic proximity Read ↗

The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association.Semantic proximity Read ↗

AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 ASemantic proximity Read ↗

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