Article
Expression of the Huntington's disease (IT15) protein product in HD patients.
Human molecular genetics - 1 Aug 1995
Schilling G, Sharp A H, Loev S J, Wagster M V, Li S H, Stine O C, Ross C A
Abstract excerpt
Huntington's disease (HD) is an inherited, neurodegenerative disorder caused by expansion of a CAG repeat in the IT15 gene, leading to an expanded glutamine repeat in the HD protein. The mechanism by which the expanded repeat causes expression of the disease is not known, though there do not appear to be changes in the mRNA levels. We have conducted quantitative Western blot analyses of HD patients and controls....
Topics
- Aged
- Alleles
- Brain
- Case-Control Studies
- Caudate Nucleus
- Cell Line
- Cerebral Cortex
- Gene Expression
- Glutamine
- Humans
- Huntingtin Protein
- Huntington Disease