Service interruption on Monday 11 July from 12:30 to 13:00: all the sites of the CCSD (HAL, Epiciences, SciencesConf, AureHAL) will be inaccessible (network hardware connection).
Skip to Main content Skip to Navigation
Journal articles

Unmasking the skiptic task of TDP‐43

Abstract : 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.
Document type :
Journal articles
Complete list of metadata
Contributor : Stéphane Dieterle Connect in order to contact the contributor
Submitted on : Wednesday, October 13, 2021 - 12:10:57 PM
Last modification on : Thursday, January 13, 2022 - 2:20:44 PM
Long-term archiving on: : Friday, January 14, 2022 - 6:55:05 PM


 Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamais

Please log in to resquest access to the document




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



Record views