Article
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.
Nature genetics - 1 Feb 1997
Mangiarini L, Sathasivam K, Mahal A, Mott R, Seller M, Bates G P
Abstract excerpt
Six inherited neurodegenerative diseases are caused by a CAG/polyglutamine expansion, including spinal and bulbar muscular atrophy (SBMA), Huntington's disease (HD), spinocerebellar ataxia type 1 (SCA1), dentatorubral pallidoluysian atrophy (DRPLA) Machado-Joseph disease (MJD or SCA3) and SCA2. N...
Topics
- Animals
- Female
- Humans
- Huntingtin Protein
- Huntington Disease
- Male
- Mice
- Mice, Transgenic
- Mosaicism
- Mutation
- Nerve Tissue Proteins
- Nuclear Proteins
- Organ Specificity
- Polymerase Chain Reaction
- Reproducibility of Results
- Transgenes
- Trinucleotide Repeats
