Ontology highlight
ABSTRACT:
SUBMITTER: Jung R
PROVIDER: S-EPMC8248964 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Jung Roy R Lee Yejin Y Barker Douglas D Correia Kevin K Shin Baehyun B Loupe Jacob J Collins Ryan L RL Lucente Diane D Ruliera Jayla J Gillis Tammy T Mysore Jayalakshmi S JS Rodan Lance L Picker Jonathan J Lee Jong-Min JM Howland David D Lee Ramee R Kwak Seung S MacDonald Marcy E ME Gusella James F JF Seong Ihn Sik IS
Human molecular genetics 20210401 3-4
Huntington's disease pathogenesis involves a genetic gain-of-function toxicity mechanism triggered by the expanded HTT CAG repeat. Current therapeutic efforts aim to suppress expression of total or mutant huntingtin, though the relationship of huntingtin's normal activities to the gain-of-function mechanism and what the effects of huntingtin-lowering might be are unclear. Here, we have re-investigated a rare family segregating two presumed HTT loss-of-function (LoF) variants associated with the ...[more]