Article
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.
Nature genetics - 1 Jul 2006
Moseley Melinda L, Zu Tao, Ikeda Yoshio, Gao Wangcai, Mosemiller Anne K, Daughters Randy S, Chen Gang, Weatherspoon Marcy R, Clark H Brent, Ebner Timothy J, Day John W, Ranum Laura P W
Abstract excerpt
We previously reported that a (CTG)n expansion causes spinocerebellar ataxia type 8 (SCA8), a slowly progressive ataxia with reduced penetrance. We now report a transgenic mouse model in which the full-length human SCA8 mutation is transcribed using its endogenous promoter. (CTG)116 expansion, but not (CTG)11 control lines, develop a progressive neurological phenotype with in vivo imaging showing reduced...
Topics
- Animals
- Base Sequence
- Chromosomes, Artificial, Bacterial
- Disease Models, Animal
- Humans
- Mice
- Mice, Transgenic
- Molecular Sequence Data
- Nerve Tissue Proteins
- Peptides
- Phenotype
- RNA, Long Noncoding
- RNA, Untranslated