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Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2

Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To as...

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Autors principals: Fogel, Brent L., Cho, Ellen, Wahnich, Amanda, Gao, Fuying, Becherel, Olivier J., Wang, Xizhe, Fike, Francesca, Chen, Leslie, Criscuolo, Chiara, De Michele, Giuseppe, Filla, Alessandro, Collins, Abigail, Hahn, Angelika F., Gatti, Richard A., Konopka, Genevieve, Perlman, Susan, Lavin, Martin F., Geschwind, Daniel H., Coppola, Giovanni
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4140459/
https://ncbi.nlm.nih.gov/pubmed/24760770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu190
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