A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

BACKGROUND: Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are impacted by somatic expansion of, and polymorphisms within, the HTT CAG/CAA glutamine-encoding repeat, and DNA repair genes....

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Detalhes bibliográficos
Publicado no:EBioMedicine
Main Authors: Ciosi, Marc, Maxwell, Alastair, Cumming, Sarah A., Hensman Moss, Davina J., Alshammari, Asma M., Flower, Michael D., Durr, Alexandra, Leavitt, Blair R., Roos, Raymund A.C., Holmans, Peter, Jones, Lesley, Langbehn, Douglas R., Kwak, Seung, Tabrizi, Sarah J., Monckton, Darren G.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Research paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6838430/
https://ncbi.nlm.nih.gov/pubmed/31607598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2019.09.020
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