Article
A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 10 Nov 2004
Goti Daniel, Katzen Scott M, Mez Jesse, Kurtis Noam, Kiluk Jennifer, Ben-Haïem Lea, Jenkins Nancy A, Copeland Neal G, Kakizuka Akira, Sharp Alan H, Ross Christopher A, Mouton Peter R, Colomer Veronica
Abstract excerpt
Machado-Joseph disease (MJD) is an inherited neurodegenerative disorder caused by ataxin-3 with a polyglutamine expansion. It is proposed that a toxic cleavage fragment of mutant ataxin-3 alternatively spliced isoform mjd1a triggers neurodegeneration, although this fragment has not yet been detected in the brains of MJD patients or in animal models. We have now generated transgenic mice expressing human mutant...
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