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Senataxin protects the genome: Implications for neurodegeneration and other abnormalities
Ataxia oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive disorder characterized by cerebellar atrophy, peripheral neuropathy, loss of Purkinje cells and elevated α-fetoprotein. AOA2 is caused by mutations in the SETX gene that codes for the high molecular weight protein senataxin. Mutat...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Landes Bioscience
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3927485/ https://ncbi.nlm.nih.gov/pubmed/25003001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/rdis.25230 |
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