期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 109, 期 9, 页码 3528-3533出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1114502109
关键词
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资金
- Huntington Society of Canada
- Canadian Institutes for Medical Research [MOP-172515, MOP-111219, MOP-165174]
- Canada Foundation for Innovation
- Alberta Innovates-Health Solutions (AIHS)
Huntington disease (HD) is a progressive neurodegenerative monogenic disorder caused by expansion of a polyglutamine stretch in the huntingtin (Htt) protein. Mutant huntingtin triggers neural dysfunction and death, mainly in the corpus striatum and cerebral cortex, resulting in pathognomonic motor symptoms, as well as cognitive and psychiatric decline. Currently, there is no effective treatment for HD. We report that intraventricular infusion of ganglioside GM1 induces phosphorylation of mutant huntingtin at specific serine amino acid residues that attenuate huntingtin toxicity, and restores normal motor function in already symptomatic HD mice. Thus, our studies have identified a potential therapy for HD that targets a post-translational modification of mutant huntingtin with critical effects on disease pathogenesis.
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