Synucleinopathies and Tauopathies

Basic Neurochemistry

Volumn , Issue , 2012, Pages 829-843

  Goedert, Michel ^a   Spillantini, Maria Grazia ^b  

^a MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882462243     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-374947-5.00047-X     Document Type: Chapter

References (75)

1. Ahlskog J.E. Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease. Parkinsonism and Related Disorders 2009, 15:721-727.
2. Al-Chalabi A., Dürr A., Wood N.W., Parkinson M.H., Camuzat A., Hulot J.S., et al. Genetic variants of the α-synuclein gene SNCA are associated with multiple system atrophy. PLoS ONE 2009, 4:e7114.
3. Allen B., Ingram E., Takao M., Smith M.J., Jakes R., Virdee K., et al. Abundant tau filaments and nonapoptotic neurodegeneration in transgenic mice expressing human P301S tau protein. Journal of Neuroscience 2002, 22:9340-9351.
4. Andorfer C., Kress Y., Espinoza M., de Silva R., Tucker K.L., Barde Y.A., et al. Hyperphosphorylation and aggregation of tau in mice expressing normal human tau isoforms. Journal of Neurochemistry 2003, 86:582-590.
5. Baker M., Mackenzie I.R., Pickering-Brown S.M., Gass J., Rademakers R., Lindholm C., et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006, 442:916-919.
6. Betarbet R., Sherer T.B., MacKenzie G., Garcia-Osuna M., Panov A.V., Greenamyre J.T. Chronic systemic pesticide exposure reproduces features of Parkinson's disease. Nature Neuroscience 2000, 3:1301-1306.
7. Bharadwaj P., Martins R., Macreadie I. Yeast as a model for studying Alzheimer's disease. FEMS Yeast Research 2010, 10:961-969.
8. Braak H., Del Tredici K., Rüb U., de Vos R.A.I., Jansen Steur E.N.H., Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiology of Aging 2003, 24:197-211.
9. Braak H., Braak E. Neuropathological staging of Alzheimer-related changes. Acta Neuropathologica 1991, 82:239-259.
10. Braak H., Del Tredici K. The pathological process underlying Alzheimer's disease in individuals under thirty. Acta Neuropathologica 2011, 121:171-181.
11. Burré J., Sharma M., Tsetsenis T., Buchman V., Etherton M.R., Südhof T.C. α-Synuclein promotes SNARE-complex assembly in vivo and in vitro. Science 2010, 329:1663-1667.
12. Clavaguera F., Bolmont T., Crowther R.A., Abramowski D., Frank S., Probst A., et al. Transmission and spreading of tauopathy in transgenic mouse brain. Nature Cell Biology 2009, 11:909-913.
13. Colby D.W., Prusiner S.B. Prions. Cold Spring Harbor Perspectives in Biology 2011, 3:a006833.
14. Conrad C., Andreadis A., Trojanowski J.Q., Dickson D.W., Kang D., Chen X., et al. Genetic evidence for the involvement of Tau in progressive supranuclear palsy. Annals of Neurology 1997, 41:277-281.
15. Coomaraswamy J., Kilger E., Wölfing H., Schäfer C., Kaeser S.A., Wegenast-Braun B., et al. Modeling familial Danish dementia in mice supports the concept of the amyloid hypothesis of Alzheimer's disease. Proceedings of the National Academy of Sciences (USA) 2010, 107:7969-7974.
16. Cruts M., Gijselinck I., van der Zee J., Engelborghs S., Wils H., Pirici D., et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006, 442:920-924.
17. Davidson W.S., Jonas A., Clayton D.F., George J.M. Stabilization of α-synuclein secondary structure upon binding to synthetic membranes. Journal of Biological Chemistry 1998, 273:9443-9449.
18. Desplats P., Lee H.J., Bae E.J., Patrick C., Rockenstein E., Crews L., et al. Inclusion formation and neuronal cell death through neuron-to-neuron transmission of α-synuclein. Proceedings of the National Academy of Sciences (USA) 2009, 106:13010-13015.
19. Feany M. New approaches to the pathology and genetics of neurodegeneration. American Journal of Pathology 2010, 176:2058-2066.
20. Feany M.B., Bender W.W. A Drosophila model of Parkinson's disease. Nature 2000, 404:394-398.
21. Frost B., Jacks R.L., Diamond M.I. Propagation of tau misfolding from the outside to the inside of a cell. Journal of Biological Chemistry 2009, 284:12845-12852.
22. Fujiwara H., Hasegawa M., Dohmae N., Kawashima A., Masliah E., Goldberg M.S., et al. α-Synuclein is phosphorylated in synucleinopathy lesions. Nature Cell Biology 2002, 4:160-164.
23. Ghetti B., Wszolek Z.K., Boeve B.F., Spina S., Goedert M. Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17 MAPT). Neurodegeneration: The molecular pathology of dementia and movement disorders 2011, International Society of Neuropathology, Basel, Switzerland. D.W. Dickson (Ed.).
24. Giasson B.I., Duda J.E., Quinn S.M., Zhang B., Trojanowski J.Q., Lee V.M.Y. Neuronal α-synucleinopathy with severe movement disorder in mice expressing A53T human α-synuclein. Neuron 2002, 34:521-533.
25. Goedert M., Spillantini M.G. A century of Alzheimer's disease. Science 2006, 314:777-781.
26. Goedert M., Spillantini M.G., Cairns M.J., Crowther R.A. Tau proteins of Alzheimer paired helical filaments: Abnormal phosphorylation of all six brain isoforms. Neuron 1992, 8:159-168.
27. Greffard S., Verny M., Bonnet A.M., Seilhean D., Hauw J.J., Duyckaerts C. A stable proportion of Lewy body-bearing neurons in the substantia nigra suggests a model in which the Lewy body causes neuronal death. Neurobiology of Aging 2010, 31:99-103.
28. Guthrie C.R., Schellenberg G.D., Kraemer B.C. SUT-2 potentiates tau-induced neurotoxicity in Caenorhabditis elegans. Human Molecular Genetics 2009, 18:1825-1838.
29. Harada A., Oguchi K., Okabe S., Kuno J., Terada S., Ohshima T., et al. Altered microtubule organization in small-calibre axons of mice lacking tau protein. Nature 1994, 369:488-491.
30. Hanger D.P., Anderton B.H., Noble W. Tau phosphorylation: the therapeutic challenge for neurodegenerative disease. Trends in Molecular Medicine 2009, 15:112-119.
31. Höglinger, G. U., Melhem, N. M., Dickson, D., Sleiman, P. M. A., Wang, L. S., Klei, L., et al. (2011). Common variants affect risk for the tauopathy progressive supranuclear palsy. Nature Genetics, (in press).
32. Hutton M., Lendon C.L., Rizzu M., Baker M., Froelich S., Houlden H., et al. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998, 393:702-705.
33. Ittner L.M., Ke Y.D., Delerue F., Bi M., Gladbach A., van Eersel J., et al. Dendritic function of tau mediates amyloidβ toxicity in Alzheimer's disease mouse models. Cell 2010, 114:387-397.
34. Kirik D., Annett L.E., Burger C., Muzyczka N., Mandel R.J., Björklund A. Nigrostriatal α-synucleinopathy induced by viral vector-mediated overexpression of human α-synuclein: A new primate model of Parkinson's disease. Proceedings of the National Academy of Sciences (USA) 2003, 100:2884-2889.
35. Klein R.L., Dayton R.D., Diaczynsky C.G., Wang D.B. Pronounced microgliosis and neurodegeneration in aged rats after tau gene transfer. Neurobiology of Aging 2010, 31:2091-2102.
36. Kordower J.H., Chu Y., Hauser R.A., Freeman T.B., Olanow C.W. Lewy body-like pathology in long-term embryonic nigral transplants in Parkinson's disease. Nature Medicine 2008, 14:504-506.
37. Kraemer B.C., Zhang B., Leverenz J.B., Thomas J.H., Trojanowski J.Q., Schellenberg G.D. Neurodegeneration and defective neurotransmission in a Caenorhabditis elegans model of tauopathy. Proceedings of the National Academy of Sciences (USA) 2003, 100:9980-9985.
38. Larsen K.E., Schmitz Y., Troyer M.D., Mosharov E., Dietrich P., Quazi A.Z., et al. α-Synuclein overexpression in PC12 and chromaffin cells impairs catecholamine release by interfering with a late step in exocytosis. Journal of Neuroscience 2006, 26:11915-11922.
39. Lefebre T., Ferreira S., Dupont-Wallois L., Bussiere T., Dupire M.J., Delacourte A., et al. Evidence of a balance between phosphorylation and O-GlcNAc glycosylation of Tau proteins-a role in nuclear localization. Biochimica et Biophysica Acta 2003, 1619:167-176.
40. Lewis J., McGowan E., Rockwood J., Melrose H., Nacharaaju P., Van Slegtenhorst M., et al. Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein. Nature Genetics 2000, 25:402-405.
41. Le Corre S., Klafki H.W., Plesnila N., Hübinger G., Obermeier A., Sahagún H., et al. An inhibitor of tau hyperphosphorylation prevents severe motor impairments in tau transgenic mice. Proceedings of the National Academy of Sciences (USA) 2006, 103:9673-9678.
42. Li J.Y., Englund E., Holton J.L., Soulet D., Hagell P., Lees A.J., et al. Lewy bodies in grafted neurons in subjects with Parkinson's disease suggest host-to-graft disease progression. Nature Medicine 2008, 14:501-503.
43. Lin X., Parisiadou L., Gu X.L., Wang L., Shin H., Sun L., et al. Leucine-rich repeat kinase 2 regulates the progression of neuropathology induced by Parkinson's disease-related mutant α-synuclein. Neuron 2009, 64:807-827.
44. Lindwall G., Cole R.D. Phosphorylation affects the ability of tau protein to promote microtubule assembly. Journal of Biological Chemistry 1984, 259:5301-5305.
45. Masuda M., Suzuki N., Taniguchi S., Oikawa T., Nonaka T., Iwatsubo T., et al. Small molecule inhibitors of α-synuclein filament assembly. Biochemistry 2006, 45:6085-6094.
46. Outeiro T.F., Lindquist S. Yeast cells provide insight into α-synuclein biology and pathobiology. Science 2003, 302:1772-1775.
47. Pan-Montojo F., Anitchik O., Dening Y., Knels L., Pursche S., Jung R., et al. Progression of Parkinson's disease pathology is reproduced by intragastric administration of rotenone in mice. PLoS ONE 2010, 5:e8762.
48. Paquet R.D., Bhat R., Sydow A., Mandelkow E.M., Berg S., et al. A zebrafish model of tauopathy allows in vivo imaging of neuronal cell death and drug evaluation. Journal of Clinical Investigation 2009, 119:1382-1395.
49. Paisan-Ruiz C., Jain S., Evans E.W., Gilks W.P., Simon J., van der Brug M., et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004, 44:595-600.
50. Polymeropoulos M.H., Lavedan C., Leroy E., Ide S.E., Dehejia A., Dutra A., et al. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 1997, 276:2045-2047.
51. Poorkaj P., Bird T.D., Wijsman E., Nemens E., Garruto R.M., Anderson L., et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Annals of Neurology 1998, 43:815-825.
52. Roberson E.D., Scearce-Levie K., Palop J.J., Yan F., Cheg I.H., Wu T., et al. Reducing endogenous tau ameliorates amyloid β-induced deficits in an Alzheimer's disease mouse model. Science 2007, 316:750-754.
53. Satake W., Nakabayashi Y., Mizuta I., Hirota Y., Ito C., Kubo M., et al. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nature Genetics 2009, 41:1303-1307.
54. Saiki M., Baker A., Williams-Gray C.H., Foltynie T., Goodman R.S., Taylor C.K., et al. Association of the human leucocyte antigen region with susceptibility to Parkinson's disease. Journal of Neurology, Neurosurgery and Psychiatry 2010, 81:890-891.
55. Samaranch L., Lorenzo-Betancor O., Arbelo J.M., Ferrer I., Lorenzo E., Irigoyen J., et al. PINK1-linked parkinsonism is associated with Lewy body pathology. Brain 2009, 133:1128-1142.
56. Santacruz K., Lewis J., Spires T., Paulson J., Koyilinek L., Ingelsson M., et al. Tau suppression in a neurodegenerative mouse model improves memory function. Science 2005, 309:476-481.
57. Singleton A.B., Farrer M., Johnson J., Singleton A., Hague S., Kachergus J., et al. α-Synuclein locus triplication causes Parkinson's disease. Science 2003, 302:841.
58. Simón-Sánchez J., Schulte C., Bras J.M., Sharma M., Gibbs J.R., Berg D., et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nature Genetics 2009, 41:1308-1312.
59. Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. New England Journal of Medicine 2009, 361:1651-1661.
60. Soper J.H., Roy S., Stieber A., Lee E., Wilson R.B., Trojanowski J.Q., et al. α-Synuclein-induced aggregation of cytoplasmic vesicles in Saccharomyces cerevisiae. Molecular Biology of the Cell 2008, 19:1093-1103.
61. Spillantini M.G., Schmidt M.L., Lee V.M.Y., Trojanowski J.Q., Jakes R., Goedert M. α-Synuclein in Lewy bodies. Nature 1997, 388:839-840.
62. Spillantini M.G., Crowther R.A., Jakes R., Cairns N.J., Lantos P.L., Goedert M. Filamentous α-synuclein inclusions link multiple system atrophy with Parkinson's disease and dementia with Lewy bodies. Neuroscience Letters 1998, 251:205-208.
63. Spillantini M.G., Murrell J.R., Goedert M., Farlow M.R., Klug A., Ghetti B. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proceedings of the National Academy of Sciences (USA) 1998, 95:7737-7741.
64. Stieler J.T., Bullmann T., Kohl F., Toien O., Brückner M.K., Härtig W., et al. The physiological link between metabolic rate depression and tau phosphorylation in mammalian hibernation. PLoS ONE 2011, 6:e14530.
65. Stefansson H., Helgason A., Thorleifsson G., Steintorsdottir V., Masson G., Barnard J., et al. A common inversion under selection in Europeans. Nature Genetics 2005, 37:129-137.
66. Tofaris G.K., Reitböck P.G., Humby T., Lambourne S.L., O'Connell M., Ghetti B., et al. Pathological changes in dopaminergic nerve cells of the substantia nigra and olfactory bulb in mice transgenic for truncated human α-synuclein (1-120): Implications for Lewy body disorders. Journal of Neuroscience 2006, 26:3942-3950.
67. Van Eersel J., Ke Y.D., Delerue F., Kril J.J., Götz J., Ittner L.M. Sodium selenate mitigates tau pathology, neurodegeneration, and functional deficits in Alzheimer's disease models. Proceedings of the National Academy of Sciences (USA) 2010, 107:13888-13893.
68. Vilar M., Chou H.T., Lührs T., Maji S.K., Riek-Loher D., Verel R., et al. The fold of α-synuclein fibrils. Proceedings of the National Academy of Sciences (USA) 2008, 105:8637-8642.
69. Wang Y.P., Biernat J., Pickhardt M., Mandelkow E., Mandelkow E.M. Stepwise proteolysis liberates tau fragments that nucleate the Alzheimer-like aggregation of full-length tau in a neuronal cell model. Proceedings of the National Academy of Sciences (USA) 2007, 104:10252-10257.
70. Wetzel.M.K., Naska S., Laliberte C.L., Rymar V.V., Fujitani M., Biernaskie J.A., et al. p73 regulates neurodegeneration and phospho-tau accumulation in aging and Alzheimer's disease. Neuron 2008, 59:708-721.
71. Winner B., Jappelli R., Maj S.K., Desplats P.A., Boyer L., Aigner S., et al. In vivo demonstration that α-synuclein oligomers are toxic. Proceedings of the National Academy of Sciences (USA) 2011, (in press).
72. Wilhelmsen K.C., Lynch T., Pavlou E., Higgins M., Nygaard T.G. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. American Journal of Human Genetics 1994, 55:1159-1164.
73. Wittmann C.W., Wszolek M.F., Shulman J.H., Salvatera P.M., Lewis J., Hutton M., et al. Tauopathy in Drosophila: Neurodegeneration without neurofibrillary tangles. Science 2001, 293:711-714.
74. Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S., et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004, 44:601-607.
75. Zibaee S., Jakes R., Fraser G., Serpell L.C., Crowther R.A., Goedert M. Sequence determinants for amyloid fibrillogenesis of human α-synuclein. Journal of Molecular Biology 2007, 374:454-464.