Article
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
The EMBO journal - 1 Jun 2018
Fratta Pietro, Sivakumar Prasanth, Humphrey Jack, Lo Kitty, Ricketts Thomas, Oliveira Hugo, Brito-Armas Jose M, Kalmar Bernadett, Ule Agnieszka, Yu Yichao, Birsa Nicol, Bodo Cristian, Collins Toby, Conicella Alexander E, Mejia Maza Alan, Marrero-Gagliardi Alessandro, Stewart Michelle, Mianne Joffrey, Corrochano Silvia, Emmett Warren, Codner Gemma, Groves Michael, Fukumura Ryutaro, Gondo Yoichi, Lythgoe Mark, Pauws Erwin, Peskett Emma, Stanier Philip, Teboul Lydia, Hallegger Martina, Calvo Andrea, Chiò Adriano, Isaacs Adrian M, Fawzi Nicolas L, Wang Eric, Housman David E, Baralle Francisco, Greensmith Linda, Buratti Emanuele, Plagnol Vincent, Fisher Elizabeth Mc, Acevedo-Arozena Abraham
Abstract excerpt
TDP-43 (encoded by the gene TARDBP) is an RNA binding protein central to the pathogenesis of amyotrophic lateral sclerosis (ALS). However, how TARDBP mutations trigger pathogenesis remains unknown. Here, we use novel mouse mutants carrying point mutations in endogenous Tardbp to dissect TDP-43 function at physiological levels both in vitro and in vivo Interestingly, we find that mutations within the C-terminal...
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