Toward understanding Machado-Joseph disease

Article ID	Journal	Published Year	Pages	File Type
6286604	Progress in Neurobiology	2012	19 Pages	PDF

Abstract

âº MJD is a neurodegenerative disease caused by polyQ expansion in ATXN3. âº ATXN3 is a deubiquitinating enzyme participating in ubiquitin-mediated proteostasis. âº PolyQ expansion in ATXN3 triggers cellular dysfunction and selective neuronal death. âº Improved understanding of disease mechanisms is suggesting routes to therapy.

Keywords

ATXN3 Hsp PolyQ SBMA 17-AAG CREB dentatorubral pallidoluysian atrophy HSF1 NLS VCP htt Ataxin-3 NNIS CK2 PCAF Spinal bulbar muscular atrophy DRPLA MJD p97 PRNP DUB HDL2 CBPC UIM NCOR1 NEDD8 shRNAs Short hairpin RNAs YAC C-terminus of Hsc70 interacting protein ubiquitin interacting motif Ubl PNA ERAD SUMO SNPs HDAC bZIP SCA LNA nES 17-allylamino-17-demethoxygeldanamycin cDNA Complementary DNA Igf1 RNA interference RNAi ROS STRs ubiquitin-like spinocerebellar ataxia deubiquitinating enzyme Locked Nucleic Acid Peptide nucleic acid MRI Polyglutamine disease Machado–Joseph disease Huntington disease endoplasmic reticulum-associated degradation Magnetic resonance imaging Neurodegeneration forkhead Box O CNS SOD Superoxide dismutase CMV cytomegalovirus central nervous system Ubiquitin proteasome system nuclear export signal nuclear localization signal FoxO UTR یا untranslated regions untranslated region Huntingtin histone deacetylase Valosin-containing protein Prion protein heat-shock protein Single nucleotide polymorphisms Polyglutamine CHiP Casein kinase 2 Yeast artificial chromosome Protein quality control small ubiquitin-like modifier Reactive oxygen species UPS Ubiquitin