A new model to study neurodegeneration in ataxia oculomotor apraxia type 2

Ataxia oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia. Recent evidence suggests that the protein defective in this syndrome, senataxin (SETX), functions in RNA processing to protect the integrity of the genome. To date, only patient-derived lymphoblastoid cells, fib...

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Udgivet i:Hum Mol Genet
Main Authors: Becherel, Olivier J., Sun, Jane, Yeo, Abrey J., Nayler, Sam, Fogel, Brent L., Gao, Fuying, Coppola, Giovanni, Criscuolo, Chiara, De Michele, Giuseppe, Wolvetang, Ernst, Lavin, Martin F.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4581605/
https://ncbi.nlm.nih.gov/pubmed/26231220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv296
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