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

Marc Ciosi | Zendy; Alastair Maxwell | Zendy; Sarah A. Cumming | Zendy; Davina J. Hensman Moss | Zendy; Asma M. Alshammari | Zendy; Michael Flower | Zendy; Alexandra Dürr | Zendy; Blair R. Leavitt | Zendy; Raymund A.C. Roos | Zendy; Peter Holmans | Zendy; Lesley Jones | Zendy; Douglas R. Langbehn | Zendy; Seung Kwak | Zendy; Sarah J. Tabrizi | Zendy; Darren G. Monckton | Zendy

Open Access

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

Author(s) -

Marc Ciosi,

Alastair Maxwell,

Sarah A. Cumming,

Davina J. Hensman Moss,

Asma M. Alshammari,

Michael Flower,

Alexandra Dürr,

Blair R. Leavitt,

Raymund A.C. Roos,

Peter Holmans,

Lesley Jones,

Douglas R. Langbehn,

Seung Kwak,

Sarah J. Tabrizi,

Darren G. Monckton

Publication year - 2019

Publication title -

ebiomedicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.596

H-Index - 63

ISSN - 2352-3964

DOI - 10.1016/j.ebiom.2019.09.020

Subject(s) - trinucleotide repeat expansion , biology , genetics , somatic cell , polyglutamine tract , allele , genotype , glutamine , somatic fusion , gene , huntingtin , amino acid , mutant

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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