Article
Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.
Human molecular genetics - 1 Mar 2013
Furrer Stephanie A, Waldherr Sarah M, Mohanachandran Mathini S, Baughn Travis D, Nguyen Kien-Thiet, Sopher Bryce L, Damian Vincent A, Garden Gwenn A, La Spada Albert R
Abstract excerpt
Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited neurodegenerative disorder caused by a CAG - polyglutamine (polyQ) repeat expansion in the ataxin-7 gene. In polyQ disorders, synaptic dysfunction and neurodegeneration may develop prior to symptom onset. However, conditional expression studies of polyQ disease models demonstrate that suppression of gene expression can yield complete reversal of...
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