The alpha-synuclein mutation E46K promotes aggregation in cultured cells

Experimental Neurology

Volumn 197, Issue 2, 2006, Pages 515-520

  Pandey, Neeraj ^a   Schmidt, Robert E ^a   Galvin, James E ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Aggregation; Alpha synuclein; Lewy bodies; Parkinson's disease

Indexed keywords

ALPHA SYNUCLEIN; GLYCINE; GREEN FLUORESCENT PROTEIN;

ARTICLE; CATECHOLAMINE NERVE CELL; CELL AGGREGATION; CELL INCLUSION; CONTROLLED STUDY; ELECTRON MICROSCOPY; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; LEWY BODY; MOLECULAR CLONING; MOLECULAR WEIGHT; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; WESTERN BLOTTING;

ALPHA-SYNUCLEIN; BLOTTING, WESTERN; CELL AGGREGATION; CELL LINE, TUMOR; FLUORESCENT ANTIBODY TECHNIQUE; GLUTAMIC ACID; GREEN FLUORESCENT PROTEINS; HUMANS; LYSINE; MICROSCOPY, ELECTRON, TRANSMISSION; MUTAGENESIS; MUTATION; NEUROBLASTOMA; TRANSFECTION;

EID: 30444457574     PISSN: 00144886     EISSN: 10902430     Source Type: Journal    
DOI: 10.1016/j.expneurol.2005.10.019     Document Type: Article

References (33)

1. M. Baba, S. Nakajo, P.H. Tu, T. Tomita, K. Nakaya, V.M. Lee, J.Q. Trojanowski, and T. Iwatsubo Aggregation of alpha-synuclein in Lewy bodies of sporadic Parkinson's disease and dementia with Lewy bodies Am. J. Pathol. 152 1998 879 884
2. L.K. Chang, R.E. Schmidt, and E.M. Johnson Jr. Alternating metabolic pathways in NGF-deprived sympathetic neurons affect caspase-independent death J. Cell Biol. 162 2003 245 256
3. S. Chen, F.A. Ferrone, and R. Wetzel Huntington's disease age-of-onset linked to polyglutamine aggregation nucleation Proc. Natl. Acad. Sci. U. S. A. 99 2002 11884 11889 (Epub 12002, Aug 11819)
4. W. Choi, S. Zibaee, R. Jakes, L.C. Serpell, B. Davletov, R.A. Crowther, and M. Goedert Mutation E46K increases phospholipid binding and assembly into filaments of human alpha-synuclein FEBS Lett. 576 2004 363 368
5. K.A. Conway, J.D. Harper, and P.T. Lansbury Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease Nat. Med. 4 1998 1318 1320
6. M.C. Dekker, V. Bonifati, and C.M. van Duijn Parkinson's disease: piecing together a genetic jigsaw Brain 126 2003 1722 1733 (electronic publication 2003 May 21)
7. A.K. Dunker, J.D. Lawson, C.J. Brown, R.M. Williams, P. Romero, J.S. Oh, C.J. Oldfield, A.M. Campen, C.M. Ratliff, K.W. Hipps, J. Ausio, M.S. Nissen, R. Reeves, C. Kang, C.R. Kissinger, R.W. Bailey, M.D. Griswold, W. Chiu, E.C. Garner, and Z. Obradovic Intrinsically disordered protein J. Mol. Graph. Model. 19 2001 26 59
8. D. Eliezer, E. Kutluay, R. Bussell Jr., and G. Browne Conformational properties of alpha-synuclein in its free and lipid-associated states J. Mol. Biol. 307 2001 1061 1073
9. J.L. Eriksen, T.M. Dawson, D.W. Dickson, and L. Petrucelli Caught in the act: alpha-synuclein is the culprit in Parkinson's disease Neuron 40 2003 453 456
10. L.S. Forno Neuropathology of Parkinson's disease J. Neuropathol. Exp. Neurol. 55 1996 259 272
11. J.E. Galvin Dementia with Lewy bodies Arch. Neurol. 60 2003 1332 1335
12. J.E. Galvin, B. Giasson, H.I. Hurtig, V.M. Lee, and J.Q. Trojanowski Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology Am. J. Pathol. 157 2000 361 368
13. W.R. Gibb, T. Scott, and A.J. Lees Neuronal inclusions of Parkinson's disease Mov. Disord. 6 1991 2 11
14. M.C. Irizarry, W. Growdon, T. Gomez-Isla, K. Newell, J.M. George, D.F. Clayton, and B.T. Hyman Nigral and cortical Lewy bodies and dystrophic nigral neurites in Parkinson's disease and cortical Lewy body disease contain alpha-synuclein immunoreactivity J. Neuropathol. Exp. Neurol. 57 1998 334 337
15. A. Iwata, M. Maruyama, I. Kanazawa, and N. Nukina Alpha-synuclein affects the MAPK pathway and accelerates cell death J. Biol. Chem. 276 2001 45320 45329 (Epub 42001, Sep 45317)
16. R. Jakes, M.G. Spillantini, and M. Goedert Identification of two distinct synucleins from human brain FEBS Lett. 345 1994 27 32
17. N.R. Jana, M. Tanaka, G. Wang, and N. Nukina Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity Hum. Mol. Genet. 9 2000 2009 2018
18. J.C. Kessler, J.C. Rochet, and P.T. Lansbury Jr. The N-terminal repeat domain of alpha-synuclein inhibits beta-sheet and amyloid fibril formation Biochemistry 42 2003 672 678
19. R. Kruger, W. Kuhn, T. Muller, D. Woitalla, M. Graeber, S. Kosel, H. Przuntek, J.T. Epplen, L. Schols, and O. Riess Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease Nat. Genet. 18 1998 106 108
20. R. Layfield, J.R. Cavey, and J. Lowe Role of ubiquitin-mediated proteolysis in the pathogenesis of neurodegenerative disorders Ageing Res. Rev. 2 2003 343 356
21. K.S. McNaught, P. Shashidharan, D.P. Perl, P. Jenner, and C.W. Olanow Aggresome-related biogenesis of Lewy bodies Eur. J. Neurosci. 16 2002 2136 2148
22. D.W. Miller, S.M. Hague, J. Clarimon, M. Baptista, K. Gwinn-Hardy, M.R. Cookson, and A.B. Singleton Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication Neurology 62 2004 1835 1838
23. C. Parrini, N. Taddei, M. Ramazzotti, D. Degl'Innocenti, G. Ramponi, C.M. Dobson, and F. Chiti Glycine residues appear to be evolutionarily conserved for their ability to inhibit aggregation Structure (Camb) 13 2005 1143 1151
24. S. Peri, J.D. Navarro, R. Amanchy, T.Z. Kristiansen, C.K. Jonnalagadda, V. Surendranath, V. Niranjan, B. Muthusamy, T.K. Gandhi, M. Gronborg, N. Ibarrola, N. Deshpande, K. Shanker, H.N. Shivashankar, B.P. Rashmi, M.A. Ramya, Z. Zhao, K.N. Chandrika, N. Padma, H.C. Harsha, A.J. Yatish, M.P. Kavitha, M. Menezes, D.R. Choudhury, S. Suresh, N. Ghosh, R. Saravana, S. Chandran, S. Krishna, M. Joy, S.K. Anand, V. Madavan, A. Joseph, G.W. Wong, W.P. Schiemann, S.N. Constantinescu, L. Huang, R. Khosravi-Far, H. Steen, M. Tewari, S. Ghaffari, G.C. Blobe, C.V. Dang, J.G. Garcia, J. Pevsner, O.N. Jensen, P. Roepstorff, K.S. Deshpande, A.M. Chinnaiyan, A. Hamosh, A. Chakravarti, and A. Pandey Development of human protein reference database as an initial platform for approaching systems biology in humans Genome Res. 13 2003 2363 2371
25. M.H. Polymeropoulos, C. Lavedan, E. Leroy, S.E. Ide, A. Dehejia, A. Dutra, B. Pike, H. Root, J. Rubenstein, R. Boyer, E.S. Stenroos, S. Chandrasekharappa, A. Athanassiadou, T. Papapetropoulos, W.G. Johnson, A.M. Lazzarini, R.C. Duvoisin, G. Di Iorio, L.I. Golbe, and R.L. Nussbaum Mutation in the alpha-synuclein gene identified in families with Parkinson's disease Science 276 1997 2045 2047
26. L. Stefanis, K.E. Larsen, H.J. Rideout, D. Sulzer, and L.A. Greene Expression of A53T mutant but not wild-type alpha-synuclein in PC12 cells induces alterations of the ubiquitin-dependent degradation system, loss of dopamine release, and autophagic cell death J. Neurosci. 21 2001 9549 9560
27. P.H. Tu, J.E. Galvin, M. Baba, B. Giasson, T. Tomita, S. Leight, S. Nakajo, T. Iwatsubo, J.Q. Trojanowski, and V.M. Lee Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble alpha-synuclein Ann. Neurol. 44 1998 415 422
28. V.N. Uversky What does it mean to be natively unfolded? Eur. J. Biochem. 269 2002 2 12
29. V.N. Uversky A protein-chameleon: conformational plasticity of alpha-synuclein, a disordered protein involved in neurodegenerative disorders J. Biomol. Struct. Dyn. 21 2003 211 234
30. V.N. Uversky, J. Li, and A.L. Fink Evidence for a partially folded intermediate in alpha-synuclein fibril formation J. Biol. Chem. 276 2001 10737 10744
31. J.L. Webb, B. Ravikumar, J. Atkins, J.N. Skepper, and D.C. Rubinsztein Alpha-synuclein is degraded by both autophagy and the proteasome J. Biol. Chem. 278 2003 25009 25013
32. R.W. Williams, A. Chang, D. Juretic, and S. Loughran Secondary structure predictions and medium range interactions Biochim. Biophys. Acta 916 1987 200 204
33. J.J. Zarranz, J. Alegre, J.C. Gomez-Esteban, E. Lezcano, R. Ros, I. Ampuero, L. Vidal, J. Hoenicka, O. Rodriguez, B. Atares, V. Llorens, E. Gomez Tortosa, T. del Ser, D.G. Munoz, and J.G. de Yebenes The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia Ann. Neurol. 55 2004 164 173