Literature DB >> 19262167

Huntingtin associated protein 1 and its functions.

Linda Lin-yan Wu1, 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.

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Year:  2009        PMID： 19262167      PMCID： PMC2675152          DOI： 10.4161/cam.3.1.7511

Source DB:  PubMed          Journal:  Cell Adh Migr        ISSN： 1933-6918            Impact factor:   3.405


  99 in total

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Journal:  Proc Natl Acad Sci U S A       Date:  1996-05-14       Impact factor: 11.205

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  25 in total

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Authors:  Miao Yang; Yoon Lim; Xiaojiang Li; Jin-Hua Zhong; Xin-Fu Zhou
Journal:  J Biol Chem       Date:  2011-02-28       Impact factor: 5.157

Review 5.  Activation and Regulation of Cytoplasmic Dynein.

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6.  SorCS2-mediated NR2A trafficking regulates motor deficits in Huntington's disease.

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Journal:  JCI Insight       Date:  2017-05-04

7.  The impact of postsynaptic density 95 blocking peptide (Tat-NR2B9c) and an iNOS inhibitor (1400W) on proteomic profile of the hippocampus in C57BL/6J mouse model of kainate-induced epileptogenesis.

Authors:  Karen Tse; Dean Hammond; Deborah Simpson; Robert J Beynon; Edward Beamer; Michael Tymianski; Michael W Salter; Graeme J Sills; Thimmasettappa Thippeswamy
Journal:  J Neurosci Res       Date:  2019-05-15       Impact factor: 4.164

8.  Regulation of L-type Ca2+ Channel Activity and Insulin Secretion by Huntingtin-associated Protein 1.

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Journal:  J Biol Chem       Date:  2016-09-13       Impact factor: 5.157

9.  The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

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10.  Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

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Journal:  Nat Genet       Date:  2012-09-09       Impact factor: 38.330
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