Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

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 funct...

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Publicado no:EMBO J
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5983119/
https://ncbi.nlm.nih.gov/pubmed/29764981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/embj.201798684
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