General Information:

Id: 1,104
Diseases: Amyotrophic lateral sclerosis
Huntington disease - [OMIM]
Mus musculus
Hdh-HD/+ Dnchc1-Loa/+ mouse
article
Reference: Ravikumar B et al.(2005) Dynein mutations impair autophagic clearance of aggregate-prone proteins. Nat. Genet. 37: 771-776 [PMID: 15980862]

Interaction Information:

Comment The Huntington disease phenotype in Ross/Borchelt mice (Hdh-HD/+) is greatly enhanced by the Loa mutation. The Loa mutation is a missense mutation in the cytoplasmic dynein heavy chain 1 gene (Dnchc1) that results in defective fast retrograde transport. No aggregates that were immunoreactive to antibody to huntingtin were visible in cerebral cortices of 10-week-old Hdh-HD/+ Dnchc1+/+ or Hdh+/+ Dnchc1-Loa/+ mice, but aggregates were obvious in Hdh-HD/+ Dnchc1-Loa/+ mice, suggesting that the Loa mutation impaired clearance of mutant huntingtin fragments.
Formal Description
Interaction-ID: 7002

gene/protein mutant

DYNC1H1-mut

decreases_activity of

process

autophagy