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Article

Proteostasis of Huntingtin in Health and Disease.

International journal of molecular sciences - 19 Jul 2017

Koyuncu Seda, Fatima Azra, Gutierrez-Garcia Ricardo, Vilchez David

Abstract excerpt

Huntington's disease (HD) is a fatal neurodegenerative disorder characterized by motor dysfunction, cognitive deficits and psychosis. HD is caused by mutations in the Huntingtin (HTT) gene, resulting in the expansion of polyglutamine (polyQ) repeats in the HTT protein. Mutant HTT is prone to aggregation, and the accumulation of polyQ-expanded fibrils as well as intermediate oligomers formed during the aggregation...

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Identifiers

PMID: 28753941
DOI: 10.3390/ijms18071568
PMCID: PMC5536056

Genes

HTT

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