Gusella JF, MacDonald ME: Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat Rev Neurosci. 2000, 1 (2): 109-115. 10.1038/35039051.
Article
CAS
PubMed
Google Scholar
Rubinsztein DC: How does the Huntington's disease mutation damage cells?. Sci Aging Knowledge Environ. 2003, 2003 (37): PE26-10.1126/sageke.2003.37.pe26.
Article
PubMed
Google Scholar
DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N: Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science. 1997, 277 (5334): 1990-1993. 10.1126/science.277.5334.1990.
Article
CAS
PubMed
Google Scholar
Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN: Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron. 1997, 19 (2): 333-344. 10.1016/S0896-6273(00)80943-5.
Article
CAS
PubMed
Google Scholar
Taylor JP, Hardy J, Fischbeck KH: Toxic proteins in neurodegenerative disease. Science. 2002, 296 (5575): 1991-1995. 10.1126/science.1067122.
Article
CAS
PubMed
Google Scholar
Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, et al.: Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet. 2006, 38 (7): 758-769. 10.1038/ng1827.
Article
CAS
PubMed
Google Scholar
Sugars KL, Rubinsztein DC: Transcriptional abnormalities in Huntington disease. Trends Genet. 2003, 19 (5): 233-238. 10.1016/S0168-9525(03)00074-X.
Article
CAS
PubMed
Google Scholar
Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, MacDonald ME, Friedlander RM, Silani V, Hayden MR, et al.: Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science. 2001, 293 (5529): 493-498. 10.1126/science.1059581.
Article
CAS
PubMed
Google Scholar
Zuccato C, Tartari M, Crotti A, Goffredo D, Valenza M, Conti L, Cataudella T, Leavitt BR, Hayden MR, Timmusk T, et al.: Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes. Nat Genet. 2003, 35 (1): 76-83. 10.1038/ng1219.
Article
CAS
PubMed
Google Scholar
Beal MF: Mitochondria take center stage in aging and neurodegeneration. Ann Neurol. 2005, 58 (4): 495-505. 10.1002/ana.20624.
Article
CAS
PubMed
Google Scholar
Gunawardena S, Her LS, Brusch RG, Laymon RA, Niesman IR, Gordesky-Gold B, Sintasath L, Bonini NM, Goldstein LS: Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. Neuron. 2003, 40 (1): 25-40. 10.1016/S0896-6273(03)00594-4.
Article
CAS
PubMed
Google Scholar
Singaraja RR, Hadano S, Metzler M, Givan S, Wellington CL, Warby S, Yanai A, Gutekunst CA, Leavitt BR, Yi H, et al.: HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis. Hum Mol Genet. 2002, 11 (23): 2815-2828. 10.1093/hmg/11.23.2815.
Article
CAS
PubMed
Google Scholar
Bence NF, Sampat RM, Kopito RR: Impairment of the ubiquitin-proteasome system by protein aggregation. Science. 2001, 292 (5521): 1552-1555. 10.1126/science.292.5521.1552.
Article
CAS
PubMed
Google Scholar
Bennett EJ, Bence NF, Jayakumar R, Kopito RR: Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation. Mol Cell. 2005, 17 (3): 351-365. 10.1016/j.molcel.2004.12.021.
Article
CAS
PubMed
Google Scholar
Jana NR, Zemskov EA, Wang G, Nukina N: Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release. Hum Mol Genet. 2001, 10 (10): 1049-1059. 10.1093/hmg/10.10.1049.
Article
CAS
PubMed
Google Scholar
Duenas AM, Goold R, Giunti P: Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 129 (Pt 6): 1357-1370. 10.1093/brain/awl081.
Article
PubMed
Google Scholar
Ciechanover A: Intracellular protein degradation: from a vague idea thru the lysosome and the ubiquitin-proteasome system and onto human diseases and drug targeting. Exp Biol Med (Maywood). 2006, 231 (7): 1197-1211.
Google Scholar
Goldberg AL: Protein degradation and protection against misfolded or damaged proteins. Nature. 2003, 426 (6968): 895-899. 10.1038/nature02263.
Article
CAS
PubMed
Google Scholar
Bingol B, Schuman EM: Activity-dependent dynamics and sequestration of proteasomes in dendritic spines. Nature. 2006, 441 (7097): 1144-1148. 10.1038/nature04769.
Article
CAS
PubMed
Google Scholar
Cummings CJ, Mancini MA, Antalffy B, DeFranco DB, Orr HT, Zoghbi HY: Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet. 1998, 19 (2): 148-154. 10.1038/502.
Article
CAS
PubMed
Google Scholar
Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP: Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell. 1997, 90 (3): 537-548. 10.1016/S0092-8674(00)80513-9.
Article
CAS
PubMed
Google Scholar
Kim S, Nollen EA, Kitagawa K, Bindokas VP, Morimoto RI: Polyglutamine protein aggregates are dynamic. Nat Cell Biol. 2002, 4 (10): 826-831. 10.1038/ncb863.
Article
CAS
PubMed
Google Scholar
Holmberg CI, Staniszewski KE, Mensah KN, Matouschek A, Morimoto RI: Inefficient degradation of truncated polyglutamine proteins by the proteasome. Embo J. 2004, 23 (21): 4307-4318. 10.1038/sj.emboj.7600426.
Article
PubMed Central
CAS
PubMed
Google Scholar
Venkatraman P, Wetzel R, Tanaka M, Nukina N, Goldberg AL: Eukaryotic proteasomes cannot digest polyglutamine sequences and release them during degradation of polyglutamine-containing proteins. Mol Cell. 2004, 14 (1): 95-104. 10.1016/S1097-2765(04)00151-0.
Article
CAS
PubMed
Google Scholar
Diaz-Hernandez M, Valera AG, Moran MA, Gomez-Ramos P, Alvarez-Castelao B, Castano JG, Hernandez F, Lucas JJ: Inhibition of 26S proteasome activity by huntingtin filaments but not inclusion bodies isolated from mouse and human brain. J Neurochem. 2006
Google Scholar
Matilla A, Gorbea C, Einum DD, Townsend J, Michalik A, van Broeckhoven C, Jensen CC, Murphy KJ, Ptacek LJ, Fu YH: Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Hum Mol Genet. 2001, 10 (24): 2821-2831. 10.1093/hmg/10.24.2821.
Article
CAS
PubMed
Google Scholar
Davidson JD, Riley B, Burright EN, Duvick LA, Zoghbi HY, Orr HT: Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. Hum Mol Genet. 2000, 9 (15): 2305-2312.
Article
CAS
PubMed
Google Scholar
Nicastro G, Menon RP, Masino L, Knowles PP, McDonald NQ, Pastore A: The solution structure of the Josephin domain of ataxin-3: structural determinants for molecular recognition. Proc Natl Acad Sci U S A. 2005, 102 (30): 10493-10498. 10.1073/pnas.0501732102.
Article
PubMed Central
CAS
PubMed
Google Scholar
Park Y, Hong S, Kim SJ, Kang S: Proteasome function is inhibited by polyglutamine-expanded ataxin-1, the SCA1 gene product. Mol Cells. 2005, 19 (1): 23-30.
CAS
PubMed
Google Scholar
Seo H, Sonntag KC, Isacson O: Generalized brain and skin proteasome inhibition in Huntington's disease. Ann Neurol. 2004, 56 (3): 319-328. 10.1002/ana.20207.
Article
CAS
PubMed
Google Scholar
Bowman AB, Yoo SY, Dantuma NP, Zoghbi HY: Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Hum Mol Genet. 2005, 14 (5): 679-691. 10.1093/hmg/ddi064.
Article
CAS
PubMed
Google Scholar
Ding Q, Lewis JJ, Strum KM, Dimayuga E, Bruce-Keller AJ, Dunn JC, Keller JN: Polyglutamine expansion, protein aggregation, proteasome activity, and neural survival. J Biol Chem. 2002, 277 (16): 13935-13942. 10.1074/jbc.M107706200.
Article
CAS
PubMed
Google Scholar
Diaz-Hernandez M, Hernandez F, Martin-Aparicio E, Gomez-Ramos P, Moran MA, Castano JG, Ferrer I, Avila J, Lucas JJ: Neuronal induction of the immunoproteasome in Huntington's disease. J Neurosci. 2003, 23 (37): 11653-11661.
CAS
PubMed
Google Scholar
Bett JS, Goellner GM, Woodman B, Pratt G, Rechsteiner M, Bates GP: Proteasome impairment does not contribute to pathogenesis in R6/2 Huntington's disease mice: exclusion of proteasome activator REGgamma as a therapeutic target. Hum Mol Genet. 2006, 15 (1): 33-44. 10.1093/hmg/ddi423.
Article
CAS
PubMed
Google Scholar
Valera AG, Diaz-Hernandez M, Hernandez F, Ortega Z, Lucas JJ: The ubiquitin-proteasome system in Huntington's disease. Neuroscientist. 2005, 11 (6): 583-594. 10.1177/1073858405280639.
Article
CAS
PubMed
Google Scholar
Lindsten K, Dantuma NP: Monitoring the ubiquitin/proteasome system in conformational diseases. Ageing Res Rev. 2003, 2 (4): 433-449. 10.1016/S1568-1637(03)00031-X. Good review of methods to study UPS activity
Article
CAS
PubMed
Google Scholar
Khan LA, Bauer PO, Miyazaki H, Lindenberg KS, Landwehrmeyer BG, Nukina N: Expanded polyglutamines impair synaptic transmission and ubiquitin-proteasome system in Caenorhabditis elegans. J Neurochem. 2006, 98 (2): 576-587. 10.1111/j.1471-4159.2006.03895.x.
Article
CAS
PubMed
Google Scholar
Lindsten K, Menendez-Benito V, Masucci MG, Dantuma NP: A transgenic mouse model of the ubiquitin/proteasome system. Nat Biotechnol. 2003, 21 (8): 897-902. 10.1038/nbt851.
Article
CAS
PubMed
Google Scholar
Wyttenbach A, Carmichael J, Swartz J, Furlong RA, Narain Y, Rankin J, Rubinsztein DC: Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease. Proc Natl Acad Sci U S A. 2000, 97 (6): 2898-2903. 10.1073/pnas.97.6.2898.
Article
PubMed Central
CAS
PubMed
Google Scholar
Staropoli JF, McDermott C, Martinat C, Schulman B, Demireva E, Abeliovich A: Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainate excitotoxicity. Neuron. 2003, 37 (5): 735-749. 10.1016/S0896-6273(03)00084-9.
Article
CAS
PubMed
Google Scholar
Tsai YC, Fishman PS, Thakor NV, Oyler GA: Parkin facilitates the elimination of expanded polyglutamine proteins and leads to preservation of proteasome function. J Biol Chem. 2003, 278 (24): 22044-22055. 10.1074/jbc.M212235200.
Article
CAS
PubMed
Google Scholar
Darwin KH, Ehrt S, Gutierrez-Ramos JC, Weich N, Nathan CF: The proteasome of Mycobacterium tuberculosis is required for resistance to nitric oxide. Science. 2003, 302 (5652): 1963-1966. 10.1126/science.1091176.
Article
CAS
PubMed
Google Scholar
Ravikumar B, Vacher C, Berger Z, Davies JE, Luo S, Oroz LG, Scaravilli F, Easton DF, Duden R, O'Kane CJ, et al.: Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet. 2004, 36 (6): 585-595. 10.1038/ng1362.
Article
CAS
PubMed
Google Scholar
Berger Z, Ravikumar B, Menzies FM, Oroz LG, Underwood BR, Pangalos MN, Schmitt I, Wullner U, Evert BO, O'Kane CJ, et al.: Rapamycin alleviates toxicity of different aggregate-prone proteins. Hum Mol Genet. 2006, 15 (3): 433-442. 10.1093/hmg/ddi458.
Article
CAS
PubMed
Google Scholar
Ravikumar B, Berger Z, Vacher C, O'Kane CJ, Rubinsztein DC: Rapamycin pre-treatment protects against apoptosis. Hum Mol Genet. 2006, 15 (7): 1209-1216. 10.1093/hmg/ddl036.
Article
CAS
PubMed
Google Scholar
Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, Goldberg YP, Gietz RD, Pickart CM, Hayden MR: Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem. 1996, 271 (32): 19385-19394. 10.1074/jbc.271.32.19385.
Article
CAS
PubMed
Google Scholar
Martin-Aparicio E, Yamamoto A, Hernandez F, Hen R, Avila J, Lucas JJ: Proteasomal-dependent aggregate reversal and absence of cell death in a conditional mouse model of Huntington's disease. J Neurosci. 2001, 21 (22): 8772-8781.
CAS
PubMed
Google Scholar
Omura S, Fujimoto T, Otoguro K, Matsuzaki K, Moriguchi R, Tanaka H, Sasaki Y: Lactacystin, a novel microbial metabolite, induces neuritogenesis of neuroblastoma cells. J Antibiot (Tokyo). 1991, 44 (1): 113-116.
Article
CAS
Google Scholar
Fenteany G, Standaert RF, Lane WS, Choi S, Corey EJ, Schreiber SL: Inhibition of proteasome activities and subunit-specific amino-terminal threonine modification by lactacystin. Science. 1995, 268 (5211): 726-731. 10.1126/science.7732382.
Article
CAS
PubMed
Google Scholar
Hanada M, Sugawara K, Kaneta K, Toda S, Nishiyama Y, Tomita K, Yamamoto H, Konishi M, Oki T: Epoxomicin, a new antitumor agent of microbial origin. J Antibiot (Tokyo). 1992, 45 (11): 1746-1752.
Article
CAS
Google Scholar
Sin N, Kim KB, Elofsson M, Meng L, Auth H, Kwok BH, Crews CM: Total synthesis of the potent proteasome inhibitor epoxomicin: a useful tool for understanding proteasome biology. Bioorg Med Chem Lett. 1999, 9 (15): 2283-2288. 10.1016/S0960-894X(99)00376-5.
Article
CAS
PubMed
Google Scholar
Ravikumar B, Duden R, Rubinsztein DC: Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum Mol Genet. 2002, 11 (9): 1107-1117. 10.1093/hmg/11.9.1107.
Article
CAS
PubMed
Google Scholar
Waelter S, Boeddrich A, Lurz R, Scherzinger E, Lueder G, Lehrach H, Wanker EE: Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation. Mol Biol Cell. 2001, 12 (5): 1393-1407.
Article
PubMed Central
CAS
PubMed
Google Scholar
Chai Y, Koppenhafer SL, Shoesmith SJ, Perez MK, Paulson HL: Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro. Hum Mol Genet. 1999, 8 (4): 673-682. 10.1093/hmg/8.4.673.
Article
CAS
PubMed
Google Scholar
Cummings CJ, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, Orr HT, Beaudet AL, Zoghbi HY: Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 1999, 24 (4): 879-892. 10.1016/S0896-6273(00)81035-1.
Article
CAS
PubMed
Google Scholar
Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, Martinez P, Turiegano E, Benito J, Capovilla M, Skinner PJ, et al.: Identification of genes that modify ataxin-1-induced neurodegeneration. Nature. 2000, 408 (6808): 101-106. 10.1038/35040584.
Article
CAS
PubMed
Google Scholar
Verhoef LG, Lindsten K, Masucci MG, Dantuma NP: Aggregate formation inhibits proteasomal degradation of polyglutamine proteins. Hum Mol Genet. 2002, 11 (22): 2689-2700. 10.1093/hmg/11.22.2689.
Article
CAS
PubMed
Google Scholar
Davies JE, Sarkar S, Rubinsztein DC: Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Hum Mol Genet. 2006, 15 (1): 23-31. 10.1093/hmg/ddi422.
Article
CAS
PubMed
Google Scholar
Sanchez I, Mahlke C, Yuan J: Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders. Nature. 2003, 421 (6921): 373-379. 10.1038/nature01301.
Article
CAS
PubMed
Google Scholar
Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies SW, et al.: Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell. 1996, 87 (3): 493-506. 10.1016/S0092-8674(00)81369-0.
Article
CAS
PubMed
Google Scholar
Yamamoto A, Lucas JJ, Hen R: Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell. 2000, 101 (1): 57-66. 10.1016/S0092-8674(00)80623-6.
Article
CAS
PubMed
Google Scholar
Yoo SY, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, Armstrong DL, Wu SM, Sweatt JD, Zoghbi HY: SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron. 2003, 37 (3): 383-401. 10.1016/S0896-6273(02)01190-X.
Article
CAS
PubMed
Google Scholar
Bhutani NP, et al.: Puromycin-sensitive aminopeptidase is the major peptidase responsible for digesting polyglutamine sequences released by proteasomes during protein degradation. EMBO J. 2007, 26 (5): 1385-1396. 10.1038/sj.emboj.7601592.
Article
PubMed Central
CAS
PubMed
Google Scholar
Bennett EJ, et al.: Global changes to the ubiquitin system in Huntington's disease. Nature. 2007, 448 (7154): 704-708. 10.1038/nature06022.
Article
CAS
PubMed
Google Scholar