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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2014
Θέματα:
Articles
Διαθέσιμο Online: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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