Ontology highlight
ABSTRACT:
SUBMITTER: Hensman Moss DJ
PROVIDER: S-EPMC5359597 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Hensman Moss Davina J DJ Flower Michael D MD Lo Kitty K KK Miller James R C JR van Ommen Gert-Jan B GB 't Hoen Peter A C PA Stone Timothy C TC Guinee Amelia A Langbehn Douglas R DR Jones Lesley L Plagnol Vincent V van Roon-Mom Willeke M C WM Holmans Peter P Tabrizi Sarah J SJ
Scientific reports 20170321
There is widespread transcriptional dysregulation in Huntington's disease (HD) brain, but analysis is inevitably limited by advanced disease and postmortem changes. However, mutant HTT is ubiquitously expressed and acts systemically, meaning blood, which is readily available and contains cells that are dysfunctional in HD, could act as a surrogate for brain tissue. We conducted an RNA-Seq transcriptomic analysis using whole blood from two HD cohorts, and performed gene set enrichment analysis us ...[more]