Ontology highlight
ABSTRACT:
SUBMITTER: Zaghloul EM
PROVIDER: S-EPMC5435994 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Zaghloul Eman M EM Gissberg Olof O Moreno Pedro M D PMD Siggens Lee L Hällbrink Mattias M Jørgensen Anna S AS Ekwall Karl K Zain Rula R Wengel Jesper J Lundin Karin E KE Smith C I Edvard CIE
Nucleic acids research 20170501 9
Huntington's disease (HD) is a fatal, neurodegenerative disorder in which patients suffer from mobility, psychological and cognitive impairments. Existing therapeutics are only symptomatic and do not significantly alter the disease progression or increase life expectancy. HD is caused by expansion of the CAG trinucleotide repeat region in exon 1 of the Huntingtin gene (HTT), leading to the formation of mutant HTT transcripts (muHTT). The toxic gain-of-function of muHTT protein is a major cause o ...[more]