Ontology highlight
ABSTRACT:
SUBMITTER: Wilburn B
PROVIDER: S-EPMC3107122 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
Wilburn Brian B Rudnicki Dobrila D DD Zhao Jing J Weitz Tara Murphy TM Cheng Yin Y Gu Xiaofeng X Greiner Erin E Park Chang Sin CS Wang Nan N Sopher Bryce L BL La Spada Albert R AR Osmand Alex A Margolis Russell L RL Sun Yi E YE Yang X William XW
Neuron 20110501 3
Huntington's disease-like-2 (HDL2) is a phenocopy of Huntington's disease caused by CTG/CAG repeat expansion at the Junctophilin-3 (JPH3) locus. The mechanisms underlying HDL2 pathogenesis remain unclear. Here we developed a BAC transgenic mouse model of HDL2 (BAC-HDL2) that exhibits progressive motor deficits, selective neurodegenerative pathology, and ubiquitin-positive nuclear inclusions (NIs). Molecular analyses reveal a promoter at the transgene locus driving the expression of a CAG repeat ...[more]