Ontology highlight
ABSTRACT:
SUBMITTER: Chopra V
PROVIDER: S-EPMC2034257 | biostudies-literature | 2007 Oct
REPOSITORIES: biostudies-literature
Chopra Vanita V Fox Jonathan H JH Lieberman Greg G Dorsey Kathryn K Matson Wayne W Waldmeier Peter P Housman David E DE Kazantsev Aleksey A Young Anne B AB Hersch Steven S
Proceedings of the National Academy of Sciences of the United States of America 20071009 42
Huntington's disease (HD) is a progressive neurodegenerative disease caused by a glutamine expansion within huntingtin protein. The exact pathological mechanisms determining disease onset and progression remain unclear. However, aggregates of insoluble mutant huntingtin (mhtt), a hallmark of HD, are readily detected within neurons in HD brain. Although aggregated polyglutamines may not be inherently toxic, they constitute a biomarker for mutant huntingtin useful for developing therapeutics. We p ...[more]