The ubiquitin proteasome system in neurodegenerative diseases: Sometimes the chicken, sometimes the egg

Neuron

Volumn 40, Issue 2, 2003, Pages 427-446

  Ciechanover, Aaron ^a   Brundin, Patrik ^b  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b LUND UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; HYDROLASE; ISOENZYME; ISOPROTEIN; PARKIN; POLYGLUTAMINE; PROTEASOME; UBIQUITIN;

ALZHEIMER DISEASE; AMYOTROPHIC LATERAL SCLEROSIS; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CHICKEN; CLINICAL FEATURE; DEGENERATIVE DISEASE; EGG; FAMILIAL DISEASE; GENE MUTATION; METABOLIC DISORDER; NONHUMAN; PARKINSON DISEASE; PATHOGENESIS; POINT MUTATION; PRION DISEASE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; REVIEW;

EID: 0141987860     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-6273(03)00606-8     Document Type: Review

References (163)

1. Adams J. The proteasome. structure, function, and role in the cell Cancer Treat. Rev. Suppl. 29:2003;3-9.
2. Alexander M.D., Traynor B.J., Miller N., Corr B., Frost E., McQuaid S., Brett F.M., Green A., Hardiman O. "True" sporadic ALS associated with a novel SOD-1 mutation. Ann. Neurol. 52:2002;680-683.
3. Alves-Rodrigues A., Gregori L., Figueiredo-Pereira M.E. Ubiquitin, cellular inclusions and their role in neurodegeneration. Trends Neurosci. 21:1998;516-520.
4. Aquilano K., Rotilio G., Ciriolo M.R. Proteasome activation and nNOS down-regulation in neuroblastoma cells expressing a Cu,Zn superoxide dismutase mutant involved in familial ALS. J. Neurochem. 85:2003;1324-1335.
5. Becher M.W., Rubinsztein D.C., Leggo J., Wagster M.V., Stine O.C., Ranen N.G., Franz M.L., Abbott M.H., Sherr M., MacMillan J.C.et al. Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees. Mov. Disord. 12:1997;519-530.
6. Beites C.L., Xie H., Bowser R., Trimble W.S. The septin CDCrel-1 binds syntaxin and inhibits exocytosis. Nat. Neurosci. 2:1999;434-439.
7. Bence N.F., Sampat R.M., Kopito R.R. Impairment of the ubiquitin-proteasome system by protein aggregation. Science. 292:2001;1552-1555.
8. Bennett M.C., Bishop J.F., Leng Y., Chock P.B., Chase T.N., Mouradian M.M. Degradation of alpha-synuclein by proteasome. J. Biol. Chem. 274:1999;33855-33858.
9. Bercovich B., Stancovski I., Mayer A., Blumenfeld N., Laszlo A., Schwartz A.L., Ciechanover A. Ubiquitin-dependent degradation of certain protein substrates in vitro requires the molecular chaperone Hsc70. J. Biol. Chem. 272:1997;9002-9010.
10. Bonifati V., Rizzu P., van Baren M.J., Schaap O., Breedveld G.J., Krieger E., Dekker M.C., Squitieri F., Ibanez P., Joosse M.et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 299:2003;256-259.
11. Brown D.R. Copper and prion diseases. Biochem. Soc. Trans. 30:2002;742-745.
12. Bruening W., Roy J., Giasson B., Figlewicz D.A., Mushynski W.E., Durham H.D. Up-regulation of protein chaperones preserves viability of cells expressing toxic Cu/Zn-superoxide dismutase mutants associated with amyotrophic lateral sclerosis. J. Neurochem. 72:1999;693-699.
13. Bruijn L.I., Houseweart M.K., Kato S., Anderson K.L., Anderson S.D., Ohama E., Reaume A.G., Scott R.W., Cleveland D.W. Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1. Science. 281:1998;1851-1854.
14. Bueler H., Aguzzi A., Sailer A., Greiner R.A., Autenried P., Aguet M., Weissmann C. Mice devoid of PrP are resistant to scrapie. Cell. 73:1993;1339-1347.
15. Busch A., Engemann S., Lurz R., Okazawa H., Lehrach H., Wanker E.E. Mutant huntingtin promotes the fibrillogenesis of wild-type huntingtin. a potential mechanism for loss of huntingtin function in Huntington's disease J. Biol. Chem. in press.(Published online July 29):2003;2003.
16. Cattaneo E., Rigamonti D., Goffredo D., Zuccato C., Squitieri F., Sipione S. Loss of normal huntingtin function. new developments in Huntington's disease research Trends Neurosci. 24:2001;182-188.
17. Caughy B., Lansbury P.T. Protofibrils, pores, fibrils and neurodegeneration. Separating the responsible protein aggregates from the innocent bystanders Annu. Rev. Neurosci. 26:2003;267-298.
18. Chai Y., Koppenhafer S.L., Shoesmith S.J., Perez M.K., Paulson H.L. Evidence for proteasome involvement in polyglutamine disease. localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro Hum. Mol. Genet. 8:1999;673-682.
19. Chung K.K., Zhang Y., Lim K.L., Tanaka Y., Huang H., Gao J., Ross C.A., Dawson V.L., Dawson T.M. Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1. implications for Lewy-body formation in Parkinson disease Nat. Med. 7:2001;1144-1150.
20. Cleveland D.W., Liu J. Oxidation versus aggregation - how do SOD1 mutants cause ALS? Nat. Med. 6:2000;1320-1321.
21. Corti O., Hampe C., Koutnikova H., Darios F., Jacquier S., Prigent A., Robinson J.C., Pradier L., Ruberg M., Mirande M.et al. The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate. linking protein biosynthesis and neurodegeneration Hum. Mol. Genet. 12:2003;1427-1437.
22. Cummings C.J., Mancini M.A., Antalffy B., DeFranco D.B., Orr H.T., Zoghbi H.Y. Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat. Genet. 19:1998;148-154.
23. Cummings C.J., Reinstein E., Sun Y., Antalffy B., Jiang Y., Ciechanover A., Orr H.T., Beaudet A.L., Zoghbi H.Y. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 24:1999;879-892.
24. David D.C., Layfield R., Serpell L., Narain Y., Goedert M., Spillantini M.G. Proteasomal degradation of tau protein. J. Neurochem. 83:2002;176-185.
25. Dawson T.M., Dawson V.L. Rare genetic mutations shed light on the pathogenesis of Parkinson disease. J. Clin. Invest. 111:2003;145-151.
26. de Cristofaro T., Affaitati A., Cariello L., Avvedimento E.V., Varrone S. The length of polyglutamine tract, its level of expression, the rate of degradation, and the transglutaminase activity influence the formation of intracellular aggregates. Biochem. Biophys. Res. Commun. 260:1999;150-158.
27. De Vrij F.M., Sluijs J.A., Gregori L., Fischer D.F., Hermens W.T., Goldgaber D., Verhaagen J., Van Leeuwen F.W., Hol E.M. Mutant ubiquitin expressed in Alzheimer's disease causes neuronal death. FASEB J. 15:2001;2680-2688.
28. Dedeoglu A., Kubilus J.K., Jeitner T.M., Matson S.A., Bogdanov M., Kowall N.W., Matson W.R., Cooper A.J., Ratan R.R., Beal M.F.et al. Therapeutic effects of cystamine in a murine model of Huntington's disease. J. Neurosci. 22:2002;8942-8950.
29. Dev K.K., Hofele K., Barbieri S., Buchman V.L., van der Putten H. Part II. alpha-synuclein and its molecular pathophysiological role in neurodegenerative disease Neuropharmacology. 45:2003;14-44. a.
30. Dev K.K., van der Putten H., Sommer B., Rovelli G. Part I. Parkin-associated proteins and Parkinson's disease Neuropharmacology. 45:2003;1-13. b.
31. Di Fiore P.P., Polo S., Hofmann K. When ubiquitin meets ubiquitin receptors. a signalling connection Nat. Rev. Mol. Cell Biol. 4:2003;491-497.
32. Ding Q., Lewis J.J., Strum K.M., Dimayuga E., Bruce-Keller A.J., Dunn J.C., Keller J.N. Polyglutamine expansion, protein aggregation, proteasome activity, and neural survival. J. Biol. Chem. 277:2002;13935-13942.
33. Ding Q., Dimayuga E., Martin S., Bruce-Keller A.J., Nukala V., Cuervo A.M., Keller J.N. Characterization of chronic low-level proteasome inhibition on neural homeostasis. J. Neurochem. 86:2003;489-497.
34. Doskeland A.P., Flatmark T. Ubiquitination of soluble and membrane-bound tyrosine hydroxylase and degradation of the soluble form. Eur. J. Biochem. 269:2002;1561-1569.
35. Doss-Pepe E.W., Stenroos E.S., Johnson W.G., Madura K. Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis. Mol. Cell. Biol. 23:2003;6469-6483.
36. Drisaldi B., Stewart R.S., Adles C., Stewart L.R., Quaglio E., Biasini E., Fioriti L., Chiesa R., Harris D.A. Mutant PrP is delayed in its exit from the endoplasmic reticulum, but neither wild-type nor mutant PrP undergoes retrotranslocation prior to proteasomal degradation. J. Biol. Chem. 278:2003;21732-21743.
37. Fabunmi R.P., Wigley W.C., Thomas P.J., DeMartino G.N. Activity and regulation of the centrosome-associated proteasome. J. Biol. Chem. 275:2000;409-413.
38. Fernandez-Funez P., Nino-Rosales M.L., de Gouyon B., She W.C., Luchak J.M., Martinez P., Turiegano E., Benito J., Capovilla M., Skinner P.J.et al. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature. 408:2000;101-106.
39. Forloni G., Terreni L., Bertani I., Fogliarino S., Invernizzi R., Assini A., Ribizzi G., Negro A., Calabrese E., Volonte M.A.et al. Protein misfolding in Alzheimer's and Parkinson's disease. genetics and molecular mechanisms Neurobiol. Aging. 23:2002;957-976.
40. French B.A., van Leeuwen F., Riley N.E., Yuan Q.X., Bardag-Gorce F., Gaal K., Lue Y.H., Marceau N., French S.W. Aggresome formation in liver cells in response to different toxic mechanisms. role of the ubiquitin-proteasome pathway and the frameshift mutant of ubiquitin Exp. Mol. Pathol. 71:2001;241-246.
41. Gai W.P., Pountney D.L., Power J.H., Li Q.X., Culvenor J.G., McLean C.A., Jensen P.H., Blumbergs P.C. alpha-Synuclein fibrils constitute the central core of oligodendroglial inclusion filaments in multiple system atrophy. Exp. Neurol. 181:2003;68-78.
42. Giasson B.I., Lee V.M. Are ubiquitination pathways central to Parkinson's disease? Cell. 114:2003;1-8.
43. Glickman M.H., Ciechanover A. The ubiquitin-proteasome proteolytic pathway. destruction for the sake of construction Physiol. Rev. 82:2002;373-428.
44. Goellner G.M., Rechsteiner M. Are Huntington's and polyglutamine-based ataxias proteasome storage diseases? Int. J. Biochem. Cell Biol. 35:2003;562-571.
45. Goldberg M.S., Fleming S.M., Palacino J.J., Cepeda C., Lam H.A., Bhatnagar A., Meloni E.G., Wu N., Ackerson L.C., Klapstein G.J.et al. Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. J. Biol. Chem. in press.(Published online August 20):2003;2003.
46. Greene J.C., Whitworth A.J., Kuo I., Andrews L.A., Feany M.B., Pallanck L.J. Mitochondrial pathology and apoptotic muscle degeneration in Drosophila Parkin mutants. Proc. Natl. Acad. Sci. USA. 100:2003;4078-4083.
47. Gregori L., Fuchs C., Figueiredo-Pereira M.E., Van Nostrand W.E., Goldgaber D. Amyloid beta-protein inhibits ubiquitin-dependent protein degradation in vitro. J. Biol. Chem. 270:1995;19702-19708.
48. Gusella J.F., MacDonald M.E. Molecular genetics. unmasking polyglutamine triggers in neurodegenerative disease Nat. Rev. Neurosci. 1:2000;109-115.
49. Hardy J., Selkoe D.J. The amyloid hypothesis of Alzheimer's disease. progress and problems on the road to therapeutics Science. 297:2002;353-356.
50. Hilt W., Wolf D.H. Proteasomes. The World of Regulatory Proteolysis:2000;Eurekah.com/Landes Bioscience Publishing Company, Georgetown, TX.
51. Hishikawa N., Niwa J., Doyu M., Ito T., Ishigaki S., Hashizume Y., Sobue G. Dorfin localizes to the ubiquitylated inclusions in Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and amyotrophic lateral sclerosis. Am. J. Pathol. 163:2003;609-619.
52. Hoffman E.K., Wilcox H.M., Scott R.W., Siman R. Proteasome inhibition enhances the stability of mouse Cu/Zn superoxide dismutase with mutations linked to familial amyotrophic lateral sclerosis. J. Neurol. Sci. 139:1996;15-20.
53. Hoffner G., Kahlem P., Djian P. Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with beta-tubulin. relevance to Huntington's disease J. Cell Sci. 115:2002;941-948.
54. Hooper N.M. Could inhibition of the proteasome cause mad cow disease? Trends Biotechnol. 21:2003;144-145.
55. Hope A.D., de Silva R., Fischer D.F., Hol E.M., van Leeuwen F.W., Lees A.J. Alzheimer's associated variant ubiquitin causes inhibition of the 26S proteasome and chaperone expression. J. Neurochem. 86:2003;394-404.
56. Huynh D.P., Scoles D.R., Ho T.H., Del Bigio M.R., Pulst S.M. Parkin is associated with actin filaments in neuronal and nonneural cells. Ann. Neurol. 48:2000;737-744.
57. Huynh D.P., Scoles D.R., Nguyen D., Pulst S.M. The autosomal recessive juvenile Parkinson disease gene product, Parkin, interacts with and ubiquitinates synaptotagmin XI. Hum. Mol. Genet. in press.(Published online August 12):2003;2003.
58. Hyun D.H., Lee M., Halliwell B., Jenner P. Proteasomal inhibition causes the formation of protein aggregates containing a wide range of proteins, including nitrated proteins. J. Neurochem. 86:2003;363-373.
59. Igarashi S., Koide R., Shimohata T., Yamada M., Hayashi Y., Takano H., Date H., Oyake M., Sato T., Sato A.et al. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat. Genet. 18:1998;111-117.
60. Imai Y., Soda M., Takahashi R. Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity. J. Biol. Chem. 275:2000;35661-35664.
61. Imai Y., Soda M., Inoue H., Hattori N., Mizuno Y., Takahashi R. An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin. Cell. 105:2001;891-902.
62. Imai Y., Soda M., Hatakeyama S., Akagi T., Hashikawa T., Nakayama K.I., Takahashi R. CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity. Mol. Cell. 10:2002;55-67.
63. Ishigaki S., Niwa J., Ando Y., Yoshihara T., Sawada K., Doyu M., Yamamoto M., Kato K., Yotsumoto Y., Sobue G. Differentially expressed genes in sporadic amyotrophic lateral sclerosis spinal cords-screening by molecular indexing and subsequent cDNA microarray analysis. FEBS Lett. 531:2002;354-358.
64. Jana N.R., Zemskov E.A., 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. 10:2001;1049-1059.
65. Jiang H., Nucifora F.C. Jr., Ross C.A., DeFranco D.B. Cell death triggered by polyglutamine-expanded huntingtin in a neuronal cell line is associated with degradation of CREB-binding protein. Hum. Mol. Genet. 12:2003;1-12.
66. Jin T., Gu Y., Zanusso G., Sy M., Kumar A., Cohen M., Gambetti P., Singh N. The chaperone protein BiP binds to a mutant prion protein and mediates its degradation by the proteasome. J. Biol. Chem. 275:2000;38699-38704.
67. Joazeiro C.A., Weissman A.M. RING finger proteins. mediators of ubiquitin ligase activity Cell. 102:2000;549-552.
68. Johnston J.A., Ward C.L., Kopito R.R. Aggresomes. a cellular response to misfolded proteins J. Cell Biol. 143:1998;1883-1898.
69. Johnston J.A., Dalton M.J., Gurney M.E., Kopito R.R. Formation of high molecular weight complexes of mutant Cu, Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis. Proc. Natl. Acad. Sci. USA. 97:2000;12571-12576.
70. Julien J.P. Amyotrophic lateral sclerosis. unfolding the toxicity of the misfolded. Cell. 104:2001;581-591.
71. Kahlem P., Terre C., Green H., Djian P. Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking. relevance to diseases of the nervous system Proc. Natl. Acad. Sci. USA. 93:1996;14580-14585.
72. Kalchman M.A., Graham R.K., Xia G., Koide H.B., Hodgson J.G., Graham K.C., Goldberg Y.P., Gietz R.D., Pickart C.M., Hayden M.R. Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J. Biol. Chem. 271:1996;19385-19394.
73. Karpuj M.V., Becher M.W., Springer J.E., Chabas D., Youssef S., Pedotti R., Mitchell D., Steinman L. Prolonged survival and decreased abnormal movements in transgenic model of Huntington disease, with administration of the transglutaminase inhibitor cystamine. Nat. Med. 8:2002;143-149.
74. Katsuno M., Adachi H., Doyu M., Minamiyama M., Sang C., Kobayashi Y., Inukai A., Sobue G. Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat. Med. 9:2003;768-773.
75. Kaufman R.J. Orchestrating the unfolded protein response in health and disease. J. Clin. Invest. 110:2002;1389-1398.
76. Keck S., Nitsch R., Grune T., Ullrich O. Proteasome inhibition by paired helical filament-tau in brains of patients with Alzheimer's disease. J. Neurochem. 85:2003;115-122.
77. Keller J.N., Hanni K.B., Markesbery W.R. Impaired proteasome function in Alzheimer's disease. J. Neurochem. 75:2000;436-439.
78. Keller J.N., Gee J., Ding Q. The proteasome in brain aging. Ageing Res. Rev. 1:2002;279-293.
79. Kitada T., Asakawa S., Hattori N., Matsumine H., Yamamura Y., Minoshima S., Yokochi M., Mizuno Y., Shimizu N. Mutations in the Parkin gene cause autosomal recessive juvenile Parkinsonism. Nature. 392:1998;605-608.
80. Koegl M., Hoppe T., Schlenker S., Ulrich H.D., Mayer T.U., Jentsch S. A novel ubiquitination factor, E4, is involved in multiubiquitin chain assembly. Cell. 96:1999;635-644.
81. Kostova Z., Wolf D.H. For whom the bell tolls. protein quality control of the endoplasmic reticulum and the ubiquitin-proteasome connection EMBO J. 22:2003;2309-2317.
82. Kruger R., Kuhn W., Muller T., Woitalla D., Graeber M., Kosel S., Przuntek H., Epplen J.T., Schols L., Riess O. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat. Genet. 18:1998;106-108.
83. Kurihara L.J., Kikuchi T., Wada K., Tilghman S.M. Loss of Uch-L1 and Uch-L3 leads to neurodegeneration, posterior paralysis and dysphagia. Hum. Mol. Genet. 10:2001;1963-1970.
84. Lam Y.A., Pickart C.M., Alban A., Landon M., Jamieson C., Ramage R., Mayer R.J., Layfield R. Inhibition of the ubiquitin-proteasome system in Alzheimer's disease. Proc. Natl. Acad. Sci. USA. 97:2000;9902-9906.
85. Larsen K.E., Sulzer D. Autophagy in neurons. a review Histol. Histopathol. 17:2002;897-908.
86. Lee M., Hyun D., Halliwell B., Jenner P. Effect of the overexpression of wild-type or mutant alpha-synuclein on cell susceptibility to insult. J. Neurochem. 76:2001;998-1009. a.
87. Lee V.M., Goedert M., Trojanowski J.Q. Neurodegenerative tauopathies. Annu. Rev. Neurosci. 24:2001;1121-1159. b.
88. Lee J.P., Gerin C., Bindokas V.P., Miller R., Ghadge G., Roos R.P. No correlation between aggregates of Cu/Zn superoxide dismutase and cell death in familial amyotrophic lateral sclerosis. J. Neurochem. 82:2002;1229-1238.
89. Leroy E., Boyer R., Auburger G., Leube B., Ulm G., Mezey E., Harta G., Brownstein M.J., Jonnalagada S., Chernova T.et al. The ubiquitin pathway in Parkinson's disease. Nature. 395:1998;451-452.
90. Lindsten K., de Vrij F.M., Verhoef L.G., Fischer D.F., van Leeuwen F.W., Hol E.M., Masucci M.G., Dantuma N.P. Mutant ubiquitin found in neurodegenerative disorders is a ubiquitin fusion degradation substrate that blocks proteasomal degradation. J. Cell Biol. 157:2002;417-427.
91. Lindsten K., Menendez-Benito V., Masucci M.G., Dantuma N.P. A transgenic mouse model of the ubiquitin/proteasome system. Nat. Biotechnol. 21:2003;897-902.
92. Liu Y., Fallon L., Lashuel H.A., Liu Z., Lansbury P.T. Jr. The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Cell. 111:2002;209-218.
93. Lopez Salon M., Morelli L., Castano E.M., Soto E.F., Pasquini J.M. Defective ubiquitination of cerebral proteins in Alzheimer's disease. J. Neurosci. Res. 62:2000;302-310.
94. Lopez Salon M., Pasquini L., Besio Moreno M., Pasquini J.M., Soto E. Relationship between beta-amyloid degradation and the 26S proteasome in neural cells. Exp. Neurol. 180:2003;131-143.
95. Lotharius J., Brundin P. Pathogenesis of Parkinson's disease. dopamine, vesicles and alpha-synuclein Nat. Rev. Neurosci. 3:2002;932-942.
96. Lucking C.B., Durr A., Bonifati V., Vaughan J., De Michele G., Gasser T., Harhangi B.S., Meco G., Denefle P., Wood N.W.et al. Association between early-onset Parkinson's disease and mutations in the Parkin gene. French Parkinson's Disease Genetics Study Group. N. Engl. J. Med. 342:2000;1560-1567.
97. Lunkes A., Lindenberg K.S., Ben-Haiem L., Weber C., Devys D., Landwehrmeyer G.B., Mandel J.L., Trottier Y. Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol. Cell. 10:2002;259-269.
98. Ma J., Lindquist S. Conversion of PrP to a self-perpetuating PrPSc-like conformation in the cytosol. Science. 298:2002;1785-1788.
99. Ma J., Wollmann R., Lindquist S. Neurotoxicity and neurodegeneration when PrP accumulates in the cytosol. Science. 298:2002;1781-1785.
100. Mandrusiak L.M., Beitel L.K., Wang X., Scanlon T.C., Chevalier-Larsen E., Merry D.E., Trifiro M.A. Transglutaminase potentiates ligand-dependent proteasome dysfunction induced by polyglutamine-expanded androgen receptor. Hum. Mol. Genet. 12:2003;1497-1506.
101. Martin-Aparicio E., Yamamoto A., Hernandez F., Hen R., Avila J., Lucas J.J. Proteasomal-dependent aggregate reversal and absence of cell death in a conditional mouse model of Huntington's disease. J. Neurosci. 21:2001;8772-8781.
102. Mastroberardino P.G., Iannicola C., Nardacci R., Bernassola F., De Laurenzi V., Melino G., Moreno S., Pavone F., Oliverio S., Fesus L., Piacentini M. 'Tissue' transglutaminase ablation reduces neuronal death and prolongs survival in a mouse model of Huntington's disease. Cell Death Differ. 9:2002;873-880.
103. Matilla A., Gorbea C., Einum D.D., Townsend J., Michalik A., van Broeckhoven C., Jensen C.C., Murphy K.J., Ptacek L.J., Fu Y.H. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Hum. Mol. Genet. 10:2001;2821-2831.
104. McKintosh E., Tabrizi S.J., Collinge J. Prion diseases. J. Neurovirol. 9:2003;183-193.
105. McNaught K.S., Jenner P. Proteasomal function is impaired in substantia nigra in Parkinson's disease. Neurosci. Lett. 297:2001;191-194.
106. McNaught K.S., Olanow C.W. Proteolytic stress. a unifying concept for the etiopathogenesis of Parkinson's disease Ann. Neurol. Suppl. 53:2003;S73-S84.
107. McNaught K.S., Belizaire R., Jenner P., Olanow C.W., Isacson O. Selective loss of 20S proteasome alpha-subunits in the substantia nigra pars compacta in Parkinson's disease. Neurosci. Lett. 326:2002;155-158.
108. McNaught K.S., Belizaire R., Isacson O., Jenner P., Olanow C.W. Altered proteasomal function in sporadic Parkinson's disease. Exp. Neurol. 179:2003;38-46.
109. Miller D.W., Ahmad R., Hague S., Baptista M.J., Canet-Aviles R., McLendon C., Carter D.M., Zhu P.P., Stadler J., Chandran J.et al. L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. J. Biol. Chem. 278:2003;36588-36595.
110. Mizuno Y., Hattori N., Mori H., Suzuki T., Tanaka K. Parkin and Parkinson's disease. Curr. Opin. Neurol. 14:2001;477-482.
111. Morrison B.M., Morrison J.H., Gordon J.W. Superoxide dismutase and neurofilament transgenic models of amyotrophic lateral sclerosis. J. Exp. Zool. 282:1998;32-47.
112. Nakamura K., Jeong S.Y., Uchihara T., Anno M., Nagashima K., Nagashima T., Ikeda S., Tsuji S., Kanazawa I. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum. Mol. Genet. 10:2001;1441-1448.
113. Niwa J., Ishigaki S., Hishikawa N., Yamamoto M., Doyu M., Murata S., Tanaka K., Taniguchi N., Sobue G. Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity. J. Biol. Chem. 277:2002;36793-36798.
114. Okado-Matsumoto A., Myint T., Fujii J., Taniguchi N. Gain in functions of mutant Cu,Zn-superoxide dismutases as a causative factor in familial amyotrophic lateral sclerosis. less reactive oxidant formation but high spontaneous aggregation and precipitation Free Radic. Res. 33:2000;65-73.
115. Perutz M.F., Windle A.H. Cause of neural death in neurodegenerative diseases attributable to expansion of glutamine repeats. Nature. 412:2001;143-144.
116. Petersen A., Larsen K.E., Behr G.G., Romero N., Przedborski S., Brundin P., Sulzer D. Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration. Hum. Mol. Genet. 10:2001;1243-1254.
117. Petrucelli L., O'Farrell C., Lockhart P.J., Baptista M., Kehoe K., Vink L., Choi P., Wolozin B., Farrer M., Hardy J., Cookson M.R. Parkin protects against the toxicity associated with mutant alpha-synuclein. proteasome dysfunction selectively affects catecholaminergic neurons Neuron. 36:2002;1007-1019.
118. Pickart C.M. Mechanisms underlying ubiquitination. Annu. Rev. Biochem. 70:2001;503-533.
119. Polymeropoulos M.H., Lavedan C., Leroy E., Ide S.E., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R.et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 276:1997;2045-2047.
120. Prusiner S.B. Novel proteinaceous infectious particles cause scrapie. Science. 216:1982;136-144.
121. Ross C.A. Intranuclear neuronal inclusions. a common pathogenic mechanism for glutamine-repeat neurodegenerative diseases? Neuron. 19:1997;1147-1150.
122. Ross C.A. Polyglutamine pathogenesis. emergence of unifying mechanisms for Huntington's disease and related disorders Neuron. 35:2002;819-822.
123. Saigoh K., Wang Y.L., Suh J.G., Yamanishi T., Sakai Y., Kiyosawa H., Harada T., Ichihara N., Wakana S., Kikuchi T., Wada K. Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice. Nat. Genet. 23:1999;47-51.
124. Sakata E., Yamaguchi Y., Kurimoto E., Kikuchi J., Yokoyama S., Yamada S., Kawahara H., Yokosawa H., Hattori N., Mizuno Y.et al. Parkin binds the Rpn10 subunit of 26S proteasomes through its ubiquitin-like domain. EMBO Rep. 4:2003;301-306.
125. Sanchez I., Mahlke C., Yuan J. Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders. Nature. 421:2003;373-379.
126. Satoh J., Kuroda Y. A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population. J. Neurol. Sci. 189:2001;113-117.
127. Saudou F., Finkbeiner S., Devys D., Greenberg M.E. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell. 95:1998;55-66.
128. Scherzinger E., Lurz R., Turmaine M., Mangiarini L., Hollenbach B., Hasenbank R., Bates G.P., Davies S.W., Lehrach H., Wanker E.E. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell. 90:1997;549-558.
129. Schmidt T., Lindenberg K.S., Krebs A., Schols L., Laccone F., Herms J., Rechsteiner M., Riess O., Landwehrmeyer G.B. Protein surveillance machinery in brains with spinocerebellar ataxia type 3. redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions Ann. Neurol. 51:2002;302-310.
130. Shang F., Gong X., Palmer H.J., Nowell T.R. Jr., Taylor A. Age-related decline in ubiquitin conjugation in response to oxidative stress in the lens. Exp. Eye Res. 64:1997;21-30.
131. Sherman M.Y., Goldberg A.L. Cellular defenses against unfolded proteins. a cell biologist thinks about neurodegenerative diseases Neuron. 29:2001;15-32.
132. Shimura H., Schlossmacher M.G., Hattori N., Frosch M.P., Trockenbacher A., Schneider R., Mizuno Y., Kosik K.S., Selkoe D.J. Ubiquitination of a new form of alpha-synuclein by Parkin from human brain. implications for Parkinson's disease Science. 293:2001;263-269.
133. Shinder G.A., Lacourse M.C., Minotti S., Durham H.D. Mutant Cu/Zn-superoxide dismutase proteins have altered solubility and interact with heat shock/stress proteins in models of amyotrophic lateral sclerosis. J. Biol. Chem. 276:2001;12791-12796.
134. Snyder H., Mensah K., Theisler C., Lee J., Matouschek A., Wolozin B. Aggregated and monomeric alpha-synuclein bind to the S6' proteasomal protein and inhibit proteasomal function. J. Biol. Chem. 278:2003;11753-11759.
135. Squitieri F., Gellera C., Cannella M., Mariotti C., Cislaghi G., Rubinsztein D.C., Almqvist E.W., Turner D., Bachoud-Levi A.C., Simpson S.A.et al. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain. 126:2003;946-955.
136. Staropoli J.F., 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. 37:2003;735-749.
137. Stenoien D.L., Cummings C.J., Adams H.P., Mancini M.G., Patel K., DeMartino G.N., Marcelli M., Weigel N.L., Mancini M.A. Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone. Hum. Mol. Genet. 8:1999;731-741.
138. Stenoien D.L., Mielke M., Mancini M.A. Intranuclear ataxin1 inclusions contain both fast- and slow-exchanging components. Nat. Cell Biol. 4:2002;806-810.
139. Sugars K.L., Rubinsztein D.C. Transcriptional abnormalities in Huntington disease. Trends Genet. 19:2003;233-238.
140. Takahashi K., Taira T., Niki T., Seino C., Iguchi-Ariga S.M., Ariga H. DJ-1 positively regulates the androgen receptor by impairing the binding of PIASx alpha to the receptor. J. Biol. Chem. 276:2001;37556-37563.
141. Taylor J.P., Hardy J., Fischbeck K.H. Toxic proteins in neurodegenerative disease. Science. 296:2002;1991-1995.
142. Tsai Y.C., Fishman P.S., Thakor N.V., Oyler G.A. Parkin facilitates the elimination of expanded polyglutamine proteins and leads to preservation of proteasome function. J. Biol. Chem. 278:2003;22044-22055.
143. Tu P.H., Raju P., Robinson K.A., Gurney M.E., Trojanowski J.Q., Lee V.M. Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions. Proc. Natl. Acad. Sci. USA. 93:1996;3155-3160.
144. Upadhya S.C., Hegde A.N. A potential proteasome-interacting motif within the ubiquitin-like domain of Parkin and other proteins. Trends Biochem. Sci. 28:2003;280-283.
145. Urushitani M., Kurisu J., Tsukita K., Takahashi R. Proteasomal inhibition by misfolded mutant superoxide dismutase 1 induces selective motor neuron death in familial amyotrophic lateral sclerosis. J. Neurochem. 83:2002;1030-1042.
146. Valentine J.S., Hart P.J. Misfolded CuZnSOD and amyotrophic lateral sclerosis. Proc. Natl. Acad. Sci. USA. 100:2003;3617-3622.
147. van Leeuwen F.W., de Kleijn D.P., van den Hurk H.H., Neubauer A., Sonnemans M.A., Sluijs J.A., Koycu S., Ramdjielal R.D., Salehi A., Martens G.J.et al. Frameshift mutants of beta amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients. Science. 279:1998;242-247.
148. van Leeuwen F.W., Fischer D.F., Kamel D., Sluijs J.A., Sonnemans M.A., Benne R., Swaab D.F., Salehi A., Hol E.M. Molecular misreading. a new type of transcript mutation expressed during aging Neurobiol. Aging. 21:2000;879-891.
149. Verger A., Perdomo J., Crossley M. Modification with SUMO. A role in transcriptional regulation. EMBO Rep. 4:2003;137-142.
150. Verhoef L.G., Lindsten K., Masucci M.G., Dantuma N.P. Aggregate formation inhibits proteasomal degradation of polyglutamine proteins. Hum. Mol. Genet. 11:2002;2689-2700.
151. Voges D., Zwickl P., Baumeister W. The 26S proteasome. a molecular machine designed for controlled proteolysis Annu. Rev. Biochem. 68:1999;1015-1068.
152. Waelter S., Boeddrich A., Lurz R., Scherzinger E., Lueder G., Lehrach H., Wanker E.E. Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation. Mol. Biol. Cell. 12:2001;1393-1407.
153. Weissman A.M. Themes and variations on ubiquitylation. Nat. Rev. Mol. Cell Biol. 2:2001;169-178.
154. West A., Periquet M., Lincoln S., Lucking C.B., Nicholl D., Bonifati V., Rawal N., Gasser T., Lohmann E., Deleuze J.F.et al. Complex relationship between Parkin mutations and Parkinson disease. Am. J. Med. Genet. 114:2002;584-591.
155. Xu J., Kao S.Y., Lee F.J., Song W., Jin L.W., Yankner B.A. Dopamine-dependent neurotoxicity of alpha-synuclein. a mechanism for selective neurodegeneration in Parkinson disease Nat. Med. 8:2002;600-606.
156. Yamamoto A., Lucas J.J., Hen R. Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell. 101:2000;57-66.
157. Yang Y., Nishimura I., Imai Y., Takahashi R., Lu B. Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila. Neuron. 37:2003;911-924.
158. Yedidia Y., Horonchik L., Tzaban S., Yanai A., Taraboulos A. Proteasomes and ubiquitin are involved in the turnover of the wild-type prion protein. EMBO J. 20:2001;5383-5391.
159. Zanusso G., Petersen R.B., Jin T., Jing Y., Kanoush R., Ferrari S., Gambetti P., Singh N. Proteasomal degradation and N-terminal protease resistance of the codon 145 mutant prion protein. J. Biol. Chem. 274:1999;23396-23404.
160. Zhang Y., Gao J., Chung K.K., Huang H., Dawson V.L., Dawson T.M. Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. Proc. Natl. Acad. Sci. USA. 97:2000;13354-13359.
161. Zhou H., Cao F., Wang Z., Yu Z.-X., Nguyen H.-P., Evans J., Li S.-H., Li X.-J. Huntingtin forms toxic N-terminal fragment complexes that are promoted by the age-dependent decrease in proteasome activity. J. Cell Biol. in press:2003.
162. Zoghbi H.Y., Orr H.T. Glutamine repeats and neurodegeneration. Annu. Rev. Neurosci. 23:2000;217-247.
163. Zuccato C., Tartari M., Crotti A., Goffredo D., Valenza M., Conti L., Cataudella T., Leavitt B.R., Hayden M.R., Timmusk T.et al. Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes. Nat. Genet. 35:2003;76-83.