Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2

Mutations in the SETX gene, which encodes Senataxin, are associated with the progressive neurodegenerative diseases ataxia with oculomotor apraxia 2 (AOA2) and amyotrophic lateral sclerosis 4 (ALS4). To identify the causal defect in AOA2, patient-derived cells and SETX knockouts (human and mouse) we...

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Detalles Bibliográficos
Autores principales: Kanagaraj, Radhakrishnan, Mitter, Richard, Kantidakis, Theodoros, Edwards, Matthew M., Benitez, Anaid, Chakravarty, Probir, Fu, Beiyuan, Becherel, Olivier, Yang, Fengtang, Lavin, Martin F., Koren, Amnon, Stewart, Aengus, West, Stephen C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8795503/
https://www.ncbi.nlm.nih.gov/pubmed/35042798
http://dx.doi.org/10.1073/pnas.2114314119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8795503/
https://www.ncbi.nlm.nih.gov/pubmed/35042798
http://dx.doi.org/10.1073/pnas.2114314119

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