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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Bibliografski detalji
Glavni autori: 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
Jezik:Inglês
Izdano: Oxford University Press 2014
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Articles
Online pristup: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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