Ontology highlight
ABSTRACT:
SUBMITTER: Singaraja RR
PROVIDER: S-EPMC3177655 | biostudies-literature | 2011 Oct
REPOSITORIES: biostudies-literature
Singaraja Roshni R RR Huang Kun K Sanders Shaun S SS Milnerwood Austen J AJ Hines Rochelle R Lerch Jason P JP Franciosi Sonia S Drisdel Renaldo C RC Vaid Kuljeet K Young Fiona B FB Doty Crystal C Wan Junmei J Bissada Nagat N Henkelman R Mark RM Green William N WN Davis Nicholas G NG Raymond Lynn A LA Hayden Michael R MR
Human molecular genetics 20110720 20
Huntingtin interacting protein 14 (HIP14, ZDHHC17) is a huntingtin (HTT) interacting protein with palmitoyl transferase activity. In order to interrogate the function of Hip14, we generated mice with disruption in their Hip14 gene. Hip14-/- mice displayed behavioral, biochemical and neuropathological defects that are reminiscent of Huntington disease (HD). Palmitoylation of other HIP14 substrates, but not Htt, was reduced in the Hip14-/- mice. Hip14 is dysfunctional in the presence of mutant htt ...[more]