Article
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.
Nature genetics - 1 May 1995
Trottier Y, Devys D, Imbert G, Saudou F, An I, Lutz Y, Weber C, Agid Y, Hirsch E C, Mandel J L
Abstract excerpt
Huntington's disease (HD) results from the expansion of a polyglutamine encoding CAG repeat in a gene of unknown function. The wide expression of this transcript does not correlate with the pattern of neuropathology in HD. To study the HD gene product (huntingtin), we have developed monoclonal an...
Topics
- Amino Acid Sequence
- Animals
- Antibodies, Monoclonal
- Blotting, Western
- Brain
- Cell Line
- Chlorocebus aethiops
- Cloning, Molecular
- DNA, Complementary
- Female
- Fluorescent Antibody Technique
- Gene Expression Regulation
- Humans
- Huntingtin Protein
- Huntington Disease
- Lymphocytes
- Male
- Mice