Article
A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats.
Neurobiology of disease - 1 Feb 2010
Boy Jana, Schmidt Thorsten, Schumann Ulrike, Grasshoff Ute, Unser Samy, Holzmann Carsten, Schmitt Ina, Karl Tim, Laccone Franco, Wolburg Hartwig, Ibrahim Saleh, Riess Olaf
Abstract excerpt
Spinocerebellar ataxia type 3 (SCA3), or Machado-Joseph disease (MJD), is caused by the expansion of a polyglutamine repeat in the ataxin-3 protein. We generated a mouse model of SCA3 expressing ataxin-3 with 148 CAG repeats under the control of the huntingtin promoter, resulting in ubiquitous expression throughout the whole brain. The model resembles many features of the disease in humans, including a late onset...
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