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Polyglutamine diseases: the special case of ataxin-3 and Machado-Joseph disease

Authors:	Matos Carlos A de Macedo-Ribeiro Sandra Carvalho Ana Luísa

Institution:	Center for Neuroscience and Cell Biology & Department of Life Sciences, University of Coimbra, 3004-517 Coimbra, Portugal.

Abstract:

Keywords:	atx3 ataxin-3 CBP cAMP response element-binding protein (CREB)-binding protein CHIP C-terminus of 70 kDa heat shock protein (Hsp70)-interacting protein CK2 casein kinase 2 CMV cytomegalovirus CRM1 chromosome region maintenance 1 DRPLA dentatorubral-pallidoluysian atrophy DUB deubiquitinating enzyme ERAD endoplasmic reticulum-associated degradation GSK 3β glycogen synthase kinase 3β HD Huntington's disease HDAC3 histone deacetylase 3 HDAC6 histone deacetylase 6 Hsp40 heat shock protein 40 Hsp70 heat shock protein 70 IGF1 insulin-like growth factor InsP₃R1 type 1 inositol 1 4 5-trisphosphate receptor JD Josephin domain KO knock-out MAP2 microtubule-associated protein 2 MJD Machado–Joseph disease MTOC microtubule-organizing center NCor nuclear receptor co-repressor NEDD8 neural precursor cell expressed developmentally downregulated gene 8 NES nuclear export signal NIs nuclear inclusions NLS nuclear localization signal PCAF p300/CBP-associated factor polyQ polyglutamine PTM post-translational modification RNAi RNA interference SBMA spinal and bulbar muscular atrophy SCA spinocerebellar ataxia SNP single nucleotide polymorphism Ub ubiquitin UCH Ub C-terminal hydrolase UIM Ub-interacting motif UPP ubiquitin-proteasome pathway USP Ub-specific processing protease VCP p97/valosin-containing protein YAC yeast artificial chromosome
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