Article
Differential distribution of the normal and mutated forms of huntingtin in the human brain.
Annals of neurology - 1 Nov 1997
Gourfinkel-An I, Cancel G, Trottier Y, Devys D, Tora L, Lutz Y, Imbert G, Saudou F, Stevanin G, Agid Y, Brice A, Mandel J L, Hirsch E C
Abstract excerpt
Huntington's disease is an inherited disorder caused by expansion of a CAG trinucleotide repeat in the IT15 gene, which leads to expansion of a polyglutamine tract within the protein called huntingtin. Despite the characterization of the IT15 gene and the mutation involved in the disease, the nor...
Topics
- Adult
- Aged
- Antibody Specificity
- Brain Chemistry
- Cell Death
- Female
- Humans
- Huntingtin Protein
- Huntington Disease
- Immunohistochemistry
- Male
- Middle Aged
- Mutation
- Nerve Tissue Proteins
- Nuclear Proteins
- Trinucleotide Repeats