Unmasking the skiptic task of TDP‐43 - Inserm - Institut national de la santé et de la recherche médicale Accéder directement au contenu
Article Dans Une Revue EMBO Journal Année : 2018

Unmasking the skiptic task of TDP‐43

Résumé

The mechanism by which mutations in TAR DNA‐binding protein 43 (TDP‐43) cause neurodegeneration remains incompletely understood. In this issue of The EMBO Journal, Fratta et al (2018) describe how a point mutation in the C‐terminal low complexity domain of TDP‐43 leads to the skipping of otherwise constitutively conserved exons. In vivo, this mutation triggers late‐onset progressive neuromuscular disturbances, as seen in amyotrophic lateral sclerosis (ALS), suggesting that TDP‐43 splicing gain‐of‐function contributes to ALS pathogenesis.
Fichier sous embargo
Fichier sous embargo
Date de visibilité indéterminée

Dates et versions

inserm-03376135 , version 1 (13-10-2021)

Identifiants

Citer

Caroline Rouaux, Jose-Luis Gonzalez de Aguilar, Luc Dupuis. Unmasking the skiptic task of TDP‐43. EMBO Journal, 2018, 37 (11), pp.e99645. ⟨10.15252/embj.201899645⟩. ⟨inserm-03376135⟩

Collections

INSERM SITE-ALSACE
17 Consultations
1 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More