Ontology highlight
ABSTRACT:
SUBMITTER: Tabrizi SJ
PROVIDER: S-EPMC7613206 | biostudies-literature | 2022 Jul
REPOSITORIES: biostudies-literature
Tabrizi Sarah J SJ Estevez-Fraga Carlos C van Roon-Mom Willeke M C WMC Flower Michael D MD Scahill Rachael I RI Wild Edward J EJ Muñoz-Sanjuan Ignacio I Sampaio Cristina C Rosser Anne E AE Leavitt Blair R BR
The Lancet. Neurology 20220701 7
Huntington's disease is the most frequent autosomal dominant neurodegenerative disorder; however, no disease-modifying interventions are available for patients with this disease. The molecular pathogenesis of Huntington's disease is complex, with toxicity that arises from full-length expanded huntingtin and N-terminal fragments of huntingtin, which are both prone to misfolding due to proteolysis; aberrant intron-1 splicing of the HTT gene; and somatic expansion of the CAG repeat in the HTT gene. ...[more]