Article
TDP-43 regulates the alternative splicing of hnRNP A1 to yield an aggregation-prone variant in amyotrophic lateral sclerosis.
Brain : a journal of neurology - 1 May 2018
Deshaies Jade-Emmanuelle, Shkreta Lulzim, Moszczynski Alexander J, Sidibé Hadjara, Semmler Sabrina, Fouillen Aurélien, Bennett Estelle R, Bekenstein Uriya, Destroismaisons Laurie, Toutant Johanne, Delmotte Quentin, Volkening Kathryn, Stabile Stéphanie, Aulas Anaïs, Khalfallah Yousra, Soreq Hermona, Nanci Antonio, Strong Michael J, Chabot Benoit, Vande Velde Christine
Abstract excerpt
See Fratta and Isaacs (doi:10.1093/brain/awy091) for a scientific commentary on this article.The RNA binding proteins TDP-43 (encoded by TARDBP) and hnRNP A1 (HNRNPA1) are each mutated in certain amyotrophic lateral sclerosis cases and are often mislocalized in cytoplasmic aggregates within motor neurons of affected patients. Cytoplasmic inclusions of TDP-43, which are accompanied by a depletion of nuclear...
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