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Article

Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease.

Journal of Huntington's disease - 1 Jan 2022

Seefelder Manuel, Klein Fabrice A C, Landwehrmeyer Bernhard, Fernández-Busnadiego Rubén, Kochanek Stefan

Abstract excerpt

Since the discovery of the mutation causing Huntington's disease (HD) in 1993, it has been debated whether an expanded polyglutamine (polyQ) stretch affects the properties of the huntingtin (HTT) protein and thus contributes to the pathological mechanisms responsible for HD. Here we review the current knowledge about the structure of HTT, alone (apo-HTT) or in a complex with Huntingtin-Associated Protein 40...

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Identifiers

PMID: 35871360
DOI: 10.3233/JHD-220543
PMCID: PMC9484127

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