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Huntingtin associated protein 1 and its functions

By Linda Lin-yan Wu and Xin-Fu Zhou

Abstract

Huntington disease (HD) is caused by a polyglutamine expansion in the protein huntingtin (Htt). Several studies suggest that Htt and huntingtin associated protein 1 (HAP1) participate in intracellular trafficking and that polyglutamine expansion affects vesicular transport. Understanding the function of HAP1 and its related proteins could help elucidate the pathogenesis of HD. The present review focuses on HAP1, which has proved to be involved in intracellular trafficking. Unlike huntingtin, which is expressed ubiquitously throughout the brain and body, HAP1 is enriched in neurons, suggesting that its dysfunction could contribute to the selective neuropathology in HD. We discuss recent evidence for the involvement of HAP1 and its binding proteins in potential functions

Topics: Special Focus: Molecular and Cellular Events Controlling Neuronal and Brain Function and Dysfunction
Publisher: Landes Bioscience
OAI identifier: oai:pubmedcentral.nih.gov:2675152
Provided by: PubMed Central
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