New approaches to the pathology and genetics of neurodegeneration

American Journal of Pathology

Volumn 176, Issue 5, 2010, Pages 2058-2066

  Feany, Mel B ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN D; ALPHA SYNUCLEIN; AMYLOID BETA PROTEIN;

ALZHEIMER DISEASE; ARTICLE; CHEMICAL ANALYSIS; ELECTRON MICROSCOPY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC MODEL; HUMAN; MOUSE; NERVE CELL NECROSIS; NERVE DEGENERATION; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; OXIDATIVE STRESS; PARKINSON DISEASE; PRIORITY JOURNAL; ANIMAL; BIOLOGICAL MODEL; CHEMISTRY; DEGENERATIVE DISEASE; DISEASE MODEL; DROSOPHILA MELANOGASTER; GENETICS; HUNTINGTON CHOREA; METABOLISM; NERVE CELL; PATHOLOGY; PHOSPHORYLATION; PHYSIOLOGY;

ALPHA-SYNUCLEIN; AMYLOID BETA-PEPTIDES; ANIMALS; DISEASE MODELS, ANIMAL; DROSOPHILA MELANOGASTER; GENOME-WIDE ASSOCIATION STUDY; HUMANS; HUNTINGTON DISEASE; MODELS, BIOLOGICAL; MODELS, GENETIC; NEURODEGENERATIVE DISEASES; NEURONS; PHOSPHORYLATION;

EID: 77952029838     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.2353/ajpath.2010.091077     Document Type: Article

References (100)

1. Plassman BL, Langa KM, Fisher GG, Heeringa SG, Weir DR, Ofstedal MB, Burke JR, Hurd MD, Potter GG, Rodgers WL, Steffens DC, Willis RJ, Wallace RB: Prevalence of dementia in the United States: the aging, demographics, and memory study. Neuroepidemiology 2007, 29:125-132
2. Moghal S, Rajput AH, Meleth R, D'Arcy C, Rajput R: Prevalence of movement disorders in institutionalized elderly. Neuroepidemiology 1994, 14:297-300
3. Harris MK, Shneyder N, Borazanci A, Korniychuk E, Kelley RE, Minagar A: Movement disorders. Med Clin North Am 2009, 93:371-388
4. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB: A polymorphic DNA marker genetically linked to Huntington disease. Nature 1983, 306:234-238
5. The Huntington Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington disease chromosomes. Cell 1993, 72:971-983
6. Nasir J, Floresco JB, O'Kusky JR, Diewert VM, Richman JM, Zeisler J, Borowski A, Marth JD, Phillips AG, Hayden MR: Targeted disruption of the Huntington disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 1995, 81:811-823
7. Duyao MP, Auerbach AB, Ryan A, Persichetti F, Barnes GT, McNeil SM, Ge P, Vonsattel JP, Gusella JF, Joyner AL, Macdonald ME: Homozygous inactivation of the mouse Hdh gene does not produce a Huntington disease-like phenotype. Science 1995, 269:407-410
8. Leavitt BR, Guttman JA, Hodgson JG, Kimel GH, Singaraja R, Vogl AW, Hayden MR: Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. Am J Hum Genet 2001, 68:313-324 (Pubitemid 32147802)
9. Zhang S, Feany MB, Saraswati S, Littleton JT, Perrimon N: Inactivation of Drosophila Huntingtin affects long-term adult functioning and the pathogenesis of a Huntington disease model. Dis Model Mech 2009, 2:247-266
10. Heng MY, Detloff PJ, Albin RL: Rodent genetic models of Huntington disease. Neurobiol Dis 2008, 32:1-9
11. Jackson GR, Salecker I, Dong X, Yao X, Arnheim N, Faber PW, MacDonald ME, Zipursky SL: Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron 1998, 21:633-642 (Pubitemid 28475514)
12. Faber PW, Alter JR, MacDonald ME, Hart AC: Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis elegans sensory neuron. Proc Natl Acad Sci USA 1999, 96:179-184
13. Muchowski PJ, Ning K, D'Souza-Schorey C, Fields S: Requirement of an intact microtubule cytoskeleton for aggregation and inclusion body formation by a mutant huntingtin fragment. Proc Natl Acad Sci USA 2002, 99:727-732 (Pubitemid 34106578)
14. Roizin L, Stellar S, Willson N, Whittier J, Liu JC: Electron microscope and enzyme studies in cerebral biopsies of Huntington chorea. Trans Am Neurol Assoc 1974, 99:240-243
15. 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, 277:1990-1993 (Pubitemid 27449140)
16. Bauer PO, Nukina N: The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies. J Neurochem 2009, 110:1737-1765
17. Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, Martinez P, Turiegano E, Benito J, Capovilla M, Skinner PJ, McCall A, Canal I, Orr HT, Zoghbi HY, Botas J: Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 2000, 408:101-106
18. Zhang X, Smith DL, Meriin AB, Engemann S, Russel DE, Roark M, Washington SL, Maxwell MM, Marsh JL, Thompson LM, Wanker EE, Young AB, Housman DE, Bates GP, Sherman MY, Kazantsev AG: A potent small molecule inhibits polyglutamine aggregation in Huntington disease neurons and suppresses neurodegeneration in vivo. Proc Natl Acad Sci USA 2005, 102:892-897
19. Bilen J, Bonini NM: Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila. PLoS Genet 2007, 3:1950-1964 (Pubitemid 350072059)
20. Steffan JS, Bodai L, Pallos J, Poelman M, McCampbell A, Apostol BL, Kazantsev A, Schmidt E, Zhu YZ, Greenwald M, Kurokawa R, Housman DE, Jackson GR, Marsh JL, Thompson LM: Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 2001, 413:739-743
21. Chuang DM, Leng Y, Marinova Z, Kim HJ, Chiu CT: Multiple roles of HDAC inhibition in neurodegenerative conditions. Trends Neurosci 2009, 32:591-601
22. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WH, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL: Mutation in the α-synuclein gene identified in families with Parkinson disease. Science 1997, 276:2045-2047
23. Krüger R, Kuhn W, Müller T, Woitalla D, Graeber M, Kösel S, Przuntek H, Epplen JT, Schöls L, Riess O: Ala30Pro mutation in the gene encoding α-synuclein in Parkinson disease. Nat Genet 1998, 18:106-108
24. Zarranz JJ, Alegre J, Gomez-Esteban JC, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atares B, Llorens V, Gomez Tortosa E, del Ser T, Munoz DG, de Yebenes JG: The new mutation. E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 2004, 55:164-173
25. Spillantini MG, Schmidt ML, Lee VM, Trojanowski JQ, Jakes R, Goedert M: Alpha-synuclein in Lewy bodies. Nature 1997, 388:839-840
26. Baba M, Nakajo S, Tu PH, Tomita T, Nakaya K, Lee VM, Trojanowski JQ, Iwatsubo T: Aggregation of alpha-synuclein in Lewy bodies of sporadic Parkinson disease and dementia with Lewy bodies. Am J Pathol 1998, 152:879-884 (Pubitemid 28173348)
27. Outeiro TF, Lindquist S: Yeast cells provide insight into alpha-synuclein biology and pathobiology. Science 2003, 302:1772-1775
28. Willingham S, Outeiro TF, DeVit MJ, Lindquist SL, Muchowski PJ: Yeast genes that enhance the toxicity of a mutant huntingtin fragment or alpha-synuclein. Science 2003, 302:1769-1772 (Pubitemid 37505741)
29. Lakso M, Vartiainen S, Moilanen AM, Sirviö J, Thomas JH, Nass R, Blakely RD, Wong G: Dopaminergic neuronal loss and motor deficits in Caenorhabditis elegans overexpressing human alpha-synuclein. J Neurochem 2003, 86:165-172
30. Masliah E, Rockenstein E, Veinbergs I, Mallory M, Hashimoto M, Takeda A, Sagara Y, Sisk A, Mucke L: Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders. Science 2000, 287:1265-1269
31. Giasson BI, Duda JE, Quinn SM, Zhang B, Trojanowski JQ, Lee VM: Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein. Neuron 2002, 34:521-533 (Pubitemid 34628750)
32. Lee MK, Stirling W, Xu Y, Xu X, Qui D, Mandir AS, Dawson TM, Copeland NG, Jenkins NA, Price DL: Human alpha-synuclein-harboring familial Parkinson disease-linked Ala-53 → Thr mutation causes neurodegenerative disease with alpha-synuclein aggregation in transgenic mice. Proc Natl Acad Sci U S A 2002, 99:8968-8973
33. Kirik D, Rosenblad C, Burger C, Lundberg C, Johansen TE, Muzyczka N, Mandel RJ, Bjorklund A: Parkinson-like neurodegeneration induced by targeted overexpression of alpha-synuclein in the nigrostriatal system. J Neurosci 2002, 22:2780-2791 (Pubitemid 37465827)
34. Lo Bianco C, Ridet JL, Schneider BL, Deglon N, Aebischer P: alpha-Synucleinopathy and selective dopaminergic neuron loss in a rat lentiviral-based model of Parkinson disease. Proc Natl Acad Sci USA 2002, 99:10813-10818
35. Kirik D, Annett LE, Burger C, Muzyczka N, Mandel RJ, Bjorklund A: Nigrostriatal alpha-synucleinopathy induced by viral vector-mediated overexpression of human alpha-synuclein: a new primate model of Parkinson disease. Proc Natl Acad Sci USA 2003, 100:2884-2889 (Pubitemid 36297593)
36. Abeliovich A, Schmitz Y, Fariñas I, Choi-Lundberg D, Ho WH, Castillo PE, Shinsky N, Verdugo JM, Armanini M, Ryan A, Hynes M, Phillips H, Sulzer D, Rosenthal A: Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system. Neuron 2000, 25:239-252
37. Feany MB, Bender WW: A Drosophila model of Parkinson disease. Nature 2000, 404:394-398
38. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K: alpha-Synuclein locus triplication causes Parkinson disease. Science 2003, 302:841
39. Auluck PK, Chan HY, Trojanowski JQ, Lee VM, Bonini NM: Chaper-one suppression of alpha-synuclein toxicity in a Drosophila model for Parkinson disease. Science 2002, 295:865-868
40. Auluck PK, Bonini NM: Pharmacological prevention of Parkinson disease in Drosophila. Nat Med 2002, 8:1185-1186
41. Rochet JC, Lansbury PT Jr: Amyloid fibrillogenesis: themes and variations. Curr Opin Struct Biol 2000, 10:60-68
42. Fujiwara H, Hasegawa M, Dohmae N, Kawashima A, Masliah E, Goldberg MS, Shen J, Takio K, Iwatsubo T: alpha-Synuclein is phosphorylated in synucleinopathy lesions. Nat Cell Biol 2002, 4:160-164
43. Neumann M, Kahle PJ, Giasson BI, Ozmen L, Borroni E, Spooren W, Muller V, Odoy S, Fujiwara H, Hasegawa M, Iwatsubo T, Trojanowski JQ, Kretzschmar HA, Haass C: Misfolded proteinase K-resistant hyperphosphorylated alpha-synuclein in aged transgenic mice with locomotor deterioration and in human alpha-synucleinopathies. J Clin Invest 2002, 110:1429-1439
44. Saito Y, Kawashima A, Ruberu NN, Fujiwara H, Koyama S, Sawabe M, Arai T, Nagura H, Yamanouchi H, Hasegawa M, Iwatsubo T, Murayama S: Accumulation of phosphorylated alpha-synuclein in aging human brain. J Neuropathol Exp Neurol 2003, 62:644-654
45. Chen L, Feany MB: Alpha-synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson disease. Nat Neurosci 2005, 8:657-663 (Pubitemid 40594208)
46. Bodles AM, Guthrie DJ, Greer B, Irvine GB: Identification of the region of non-Abeta component (NAC) of Alzheimer disease amyloid responsible for its aggregation and toxicity. J Neurochem 2001, 78:384-395 (Pubitemid 32664420)
47. Giasson BI, Murray IV, Trojanowski JQ, Lee VM: A hydrophobic stretch of 12 amino acid residues in the middle of alpha-synuclein is essential for filament assembly. J Biol Chem 2001, 276:2380-2386 (Pubitemid 37376605)
48. Zibaee S, Jakes R, Fraser G, Serpell LC, Crowther RA, Goedert M: Sequence determinants for amyloid fibrillogenesis of human alpha-synuclein. J Mol Biol 2007, 374:454-464 (Pubitemid 350007653)
49. Periquet M, Fulga T, Myllykangas L, Schlossmacher MG, Feany MB: Aggregated alpha-synuclein mediates dopaminergic neurotoxicity in vivo. J Neurosci 2007, 27:3338-3346 (Pubitemid 46474139)
50. Ellis CE, Schwartzberg PL, Grider TL, Fink DW, Nussbaum RL: alpha-synuclein is phosphorylated by members of the Src family of protein-tyrosine kinases. J Biol Chem 2001, 276:3879-3884 (Pubitemid 37371467)
51. Chen L, Periquet M, Wang X, Negro A, McLean PJ, Hyman BT, Feany MB: Tyrosine and serine phosphorylation of alpha-synuclein have opposing effects on neurotoxicity and soluble oligomer formation. J Clin Inves 2009, 119:3257-3265
52. Karpinar DP, Balija MB, Kügler S, Opazo F, Rezaei-Ghaleh N, Wender N, Kim HY, Taschenberger G, Falkenburger BH, Heise H, Kumar A, Riedel D, Fichtner L, Voigt A, Braus GH, Giller K, Becker S, Herzig A, Baldus M, Jäckle H, Eimer S, Schulz JB, Griesinger C, Zweckstetter M: Pre-fibrillar alpha-synuclein variants with impaired beta-structure increase neurotoxicity in Parkinson disease models. EMBO J 2009, 28:3256-3268
53. Grundke-Iqbal I, Iqbal K, Tung YC, Quinlan M, Wisniewski HM, Binder LI: Abnormal phosphorylation of the microtubule-associated protein tau (tau) in Alzheimer cytoskeletal pathology. Proc Natl Acad Sci U S A 1986, 83:4913-4917
54. Ihara Y, Nukina N, Miura R, Ogawara M: Phosphorylated tau protein is integrated into paired helical filaments in Alzheimer disease. J Biochem (Tokyo) 1986, 99:1807-1810
55. Lee VM, Balin BJ, Otvos L Jr, Trojanowski JQ: A68: a major subunit of paired helical filaments and derivatized forms of normal Tau. Science 1991, 251:675-678
56. Hirano A: Hirano bodies and related neuronal inclusions. Neuropathol Appl Neurobiol 1994, 20:3-11
57. Feany MB, Dickson DW: Neurodegenerative disorders with extensive tau pathology: a comparative study and review. Ann Neurol 1996, 40:139-148
58. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P: Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998, 393:702-705
59. Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD: Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998, 43:815-825
60. Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B: Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci U S A 1998, 95:7737-7741
61. Lewis J, McGowan E, Rockwood J, Melrose H, Nacharaju P, Van Slegtenhorst M, Gwinn-Hardy K, Paul Murphy M, Baker M, Yu X, Duff K, Hardy J, Corral A, Lin WL, Yen SH, Dickson DW, Davies P, Hutton M: Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein. Nat Genet 2000, 25:402-405
62. Jackson GR, Wiedau-Pazos M, Sang TK, Wagle N, Brown CA, Massachi S, Geschwind DH: Human wild-type tau interacts with wingless pathway components and produces neurofibrillary pathology in Drosophila. Neuron 2002, 34:509-519
63. Wittmann CW, Wszolek MF, Shulman JM, Salvaterra PM, Lewis J, Hutton M, Feany MB: Tauopathy in Drosophila: neurodegeneration without neurofibrillary tangles. Science 2001, 293:711-714
64. Shulman JM, Feany MB: Genetic modifiers of tauopathy in Drosophila. Genetics 2003, 165:1233-1242
65. Nishimura I, Yang Y, Lu B: PAR-1 kinase plays an initiator role in a temporally ordered phosphorylation process that confers tau toxicity in Drosophila. Cell 2004, 116:671-682
66. Chatterjee S, Sang TK, Lawless GM, Jackson GR: Dissociation of tau toxicity and phosphorylation: role of GSK-3beta. MARK and Cdk5 in a Drosophila model. Hum Mol Genet 2009, 18:164-177
67. Mattson MP: Neuronal death and GSK-3beta: a tau fetish? Trends Neurosci 2001, 24:255-256
68. Ahlijanian MK, Barrezueta NX, Williams RD, Jakowski A, Kowsz KP, McCarthy S, Coskran T, Carlo A, Seymour PA, Burkhardt JE, Nelson RB, McNeish JD: Hyperphosphorylated tau and neurofilament and cytoskeletal disruptions in mice overexpressing human p25, an activator of cdk5. Proc Natl Acad Sci USA 2000, 97:2910-2915
69. Noble W, Olm V, Takata K, Casey E, Mary O, Meyerson J, Gaynor K, LaFrancois J, Wang L, Kondo T, Davies P, Burns M, Veeranna, Nixon R, Dickson D, Matsuoka Y, Ahlijanian M, Lau LF, Duff K: Cdk5 is a key factor in tau aggregation and tangle formation in vivo. Neuron 2003, 38:555-565
70. Kins S, Crameri A, Evans DR, Hemmings BA, Nitsch RM, Gotz J: Reduced protein phosphatase 2A activity induces hyperphosphorylation and altered compartmentalization of tau in transgenic mice. J Biol Chem 2001, 276:38193-38200
71. Spittaels K, Van den Haute C, Van Dorpe J, Geerts H, Mercken M, Bruynseels K, Lasrado R, Vandezande K, Laenen I, Boon T, Van Lint J, Vandenheede J, Moechars D, Loos R, Van Leuven F: Glycogen synthase kinase-3beta phosphorylates protein tau and rescues the axonopathy in the central nervous system of human four-repeat tau transgenic mice. J Biol Chem 2000, 275:41340-41349
72. Lucas JJ, Hernandez F, Gomez-Ramos P, Moran MA, Hen R, Avila J: Decreased nuclear beta-catenin, tau hyperphosphorylation and neurodegeneration in GSK-3beta conditional transgenic mice. EMBO J 2001, 20:27-39
73. Buee L, Bussiere T, Buee-Scherrer V, Delacourte A, Hof PR: Tau protein isoforms, phosphorylation and role in neurodegenerative disorders. Brain Res Brain Res Rev 2000, 33:95-130
74. Matsuo ES, Shin RW, Billingsley ML, Van deVoorde A, O'Connor M, Trojanowski JQ, Lee VM: Biopsy-derived adult human brain tau is phosphorylated at many of the same sites as Alzheimer disease paired helical filament tau. Neuron 1994, 13:989-1002
75. Hasegawa M, Jakes R, Crowther RA, Lee VM, Ihara Y, Goedert M: Characterization of mAb AP422, a novel phosphorylation-dependent monoclonal antibody against tau protein. FEBS Lett 1996, 384:25-30
76. Jicha GA, Lane E, Vincent I, Otvos L Jr, Hoffmann R, Davies P: A conformation- and phosphorylation-dependent antibody recognizing the paired helical filaments of Alzheimer disease. J Neurochem 1997, 69:2087-2095
77. Steinhilb ML, Dias-Santagata D, Mulkearns EE, Shulman JM, Biernat J, Mandelkow EM, Feany MB: S/P and T/P phosphorylation is critical for tau neurotoxicity in Drosophila. J Neurosci Res 2007, 85:1271-1278
78. Khurana V, Lu Y, Steinhilb ML, Oldham S, Shulman JM, Feany MB: TOR-mediated cell-cycle activation causes neurodegeneration in a Drosophila tauopathy model. Curr Biol 2006, 16:230-241
79. Steinhilb ML, Dias-Santagata D, Fulga TA, Felch DL, Feany MB: Tau phosphorylation sites work in concert to promote neurotoxicity in vivo. Mol Biol Cell 2007, 18:5060-5068
80. Fulga TA, Elson-Schwab I, Khurana V, Steinhilb ML, Spires TL, Hyman BT, Feany MB: Abnormal bundling and accumulation of F-actin mediates tau-induced neuronal degeneration in vivo. Nat Cell Biol 2007, 9:139-148
81. Andersen JK: 2004. Oxidative stress in neurodegeneration: cause or consequence? Nat Med 2004, 10[Suppl]:S18-S25
82. Dias-Santagata D, Fulga TA, Duttaroy A, Feany MB: Oxidative stress mediates tau-induced neurodegeneration in Drosophila. J Clin Invest 2007, 117:236-245
83. Langley B, Ratan RR: Oxidative stress-induced death in the nervous system: cell cycle dependent or independent? J Neurosci Res 2004, 77:621-629
84. Husseman JW, Nochlin D, Vincent I: Mitotic activation: a convergent mechanism for a cohort of neurodegenerative diseases. Neurobiol Aging 2000, 21:815-828
85. Yang Y, Geldmacher DS, Herrup K: DNA replication precedes neuronal cell death in Alzheimer disease. J Neurosci 2001, 21:2661-2668
86. Hardy JA, Higgins GA: Alzheimer disease: the amyloid cascade hypothesis. Science 1992, 256:184-185
87. Selkoe DJ: The molecular pathology of Alzheimer disease. Neuron 1991, 6:487-498
88. Lewis J, Dickson DW, Lin WL, Chisholm L, Corral A, Jones G, Yen SH, Sahara N, Skipper L, Yager D, Eckman C, Hardy J, Hutton M, McGowan E: Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP. Science 2001, 293:1487-1491
89. Gotz J, Chen F, van Dorpe J, Nitsch RM: Formation of neurofibrillary tangles in P301l tau transgenic mice induced by Abeta 42 fibrils. Science 2001, 293:1491-1495
90. Blurton-Jones M, Laferla FM: Pathways by which Abeta facilitates tau pathology. Curr Alzheimer Res 2006, 3:437-448
91. Clark IE, Dodson MW, Jiang C, Cao JH, Huh JR, Seol JH, Yoo SJ, Hay BA, Guo M: Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature 2006, 441:1162-1166
92. Park J, Lee SB, Lee S, Kim Y, Song S, Kim S, Bae E, Kim J, Shong M, Kim JM, Chung J: Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature 2006, 441:1157-1161
93. Yang Y, Ouyang Y, Yang L, Beal MF, McQuibban A, Vogel H, Lu B: Pink1 regulates mitochondrial dynamics through interaction with the fission/fusion machinery. Proc Natl Acad Sci U S A 2008, 105:7070-7075
94. Haltia M: The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 2003, 62:1-13
95. Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynela J: Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 2006, 129:1438-1445
96. Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J: Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 2006, 78:988-998
97. Myllykangas L, Tyynela J, Page-McCaw A, Rubin GM, Haltia MJ, Feany MB: Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses. Neurobiol Dis 2005, 19:194-199
98. Bertram L, Tanzi RE. Genome-wide association studies in Alzheimer disease. Hum Mol Genet 2009, 18:R137-R145
99. Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T: Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson disease. Nat Genet 2009, 41:1303-1307
100. Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T: Genome-wide association study reveals genetic risk underlying Parkinson disease. Nat Genet 2009, 41:1308-1312