A strategy for the generation, characterization and distribution of animal models by the Michael J. Fox Foundation for Parkinson's Research

DMM Disease Models and Mechanisms

Volumn 6, Issue 6, 2013, Pages 1316-1324

  Baptista, Marco A S ^a   Dave, Kuldip D ^a   Sheth, Niketa P ^a   De Silva, Shehan N ^a   Carlson, Kirsten M ^a   Aziz, Yasmin N ^a   Fiske, Brian K ^a   Sherer, Todd B ^a   Frasier, Mark A ^a  

^a THE MICHAEL J FOX FOUNDATION FOR PARKINSON'S RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; ALPHA SYNUCLEIN; DJ 1 PROTEIN; DOPAMINE; GLUCOSYLCERAMIDASE; INITIATION FACTOR 4G; LEUCINE RICH REPEAT KINASE 2; PARKIN; PARKIN 1; PARKIN 2; PARKIN 6; PARKIN 7; PARKIN 8; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN; PUTATIVE KINASE 1; UNCLASSIFIED DRUG; VACUOLAR PROTEIN SORTING ASSOCIATED PROTEIN 35;

ANIMAL BEHAVIOR; ANIMAL MODEL; ARTICLE; CENTRAL NERVOUS SYSTEM; COST; DISEASE COURSE; DOPAMINERGIC NERVE CELL; DRUG SCREENING; ENZYME ACTIVITY; EXPLORATORY BEHAVIOR; GAIT DISORDER; GENE DUPLICATION; GENE LOCUS; HEALTH CARE ORGANIZATION; HUMAN; LEWY BODY; MEDICAL RESEARCH; MISSENSE MUTATION; MOTOR DYSFUNCTION; NEUROCHEMISTRY; NEUROPATHOLOGY; NEUROTRANSMITTER RELEASE; NONHUMAN; OXIDATIVE STRESS; PARKINSON DISEASE; PHENOTYPE; PRESYNAPTIC NERVE; PRIORITY JOURNAL; PROTEIN BINDING; SUBSTANTIA NIGRA;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; BIOMEDICAL RESEARCH; HUMANS; MODELS, ANIMAL; PARKINSON DISEASE; PROMOTER REGIONS, GENETIC;

EID: 84888873251     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.011940     Document Type: Article

References (75)

1. Bembi, B., Zambito Marsala, S., Sidransky, E., Ciana, G., Carrozzi, M., Zorzon, M., Martini, C., Gioulis, M., Pittis, M. G. and Capus, L. (2003). Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology 61, 99-101.
2. Bernheimer, H., Birkmayer, W., Hornykiewicz, O., Jellinger, K. and Seitelberger, F. (1973). Brain dopamine and the syndromes of Parkinson and Huntington. Clinical, morphological and neurochemical correlations. J. Neurol. Sci. 20, 415-455.
3. Betarbet, R., Sherer, T. B., MacKenzie, G., Garcia-Osuna, M., Panov, A. V. and Greenamyre, J. T. (2000). Chronic systemic pesticide exposure reproduces features of Parkinson's disease. Nat. Neurosci. 3, 1301-1306.
4. Brooks, A. I., Chadwick, C. A., Gelbard, H. A., Cory-Slechta, D. A. and Federoff, H. J. (1999). Paraquat elicited neurobehavioral syndrome caused by dopaminergic neuron loss. Brain Res. 823, 1-10.
5. Brown, S. D. M. and Moore, M. W. (2012). The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping. Mamm. Genome 23, 632-640.
6. Cannon, J. R., Geghman, K. D., Tapias, V., Sew, T., Dail, M. K., Li, C. and Greenamyre, J. T. (2013). Expression of human E46K-mutated α-synuclein in BACtransgenic rats replicates early-stage Parkinson's disease features and enhances vulnerability to mitochondrial impairment. Exp. Neurol. 240, 44-56.
7. Carlsson, A., Lindqvist, M. and Magnusson, T. (1957). 3,4-Dihydroxyphenylalanine and 5-hydroxytryptophan as reserpine antagonists. Nature 180, 1200.
8. Chartier-Harlin, M. C., Kachergus, J., Roumier, C., Mouroux, V., Douay, X., Lincoln, S., Levecque, C., Larvor, L., Andrieux, J., Hulihan, M. et al. (2004). Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364, 1167-1169.
9. Chartier-Harlin, M. C., Dachsel, J., Hulihan, M., Kachergus, J., Lepretre, F., Rhun, E. L., Mutez, E., Linclon, S., Ross, O. A., Vilarino-Guell, C. et al. (2009). EIF4G1 mutations in familial parkinsonism. Parkinsonism Relat. Disord. 15, S145-S146.
10. Choi, J., Sullards, M. C., Olzmann, J. A., Rees, H. D., Weintraub, S. T., Bostwick, D. E., Gearing, M., Levey, A. I., Chin, L. S. and Li, L. (2006). Oxidative damage of DJ-1 is linked to sporadic Parkinson and Alzheimer diseases. J. Biol. Chem. 281, 10816-10824.
11. Clark, I. E., Dodson, M. W., Jiang, C., Cao, J. H., Huh, J. R., Seol, J. H., Yoo, S. J., Hay, B. A. and Guo, M. (2006). Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature 441, 1162-1166.
12. Cullen, V., Sardi, S. P., Ng, J., Xu, Y. H., Sun, Y., Tomlinson, J. J., Kolodziej, P., Kahn, I., Saftig, P., Woulfe, J. et al. (2011). Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann. Neurol. 69, 940-953.
13. Daher, J. P., Ying, M., Banerjee, R., McDonald, R. S., Hahn, M. D., Yang, L., Flint Beal, M., Thomas, B., Dawson, V. L., Dawson, T. M. et al. (2009). Conditional transgenic mice expressing C-terminally truncated human alpha-synuclein (alphaSyn119) exhibit reduced striatal dopamine without loss of nigrostriatal pathway dopaminergic neurons. Mol. Neurodegener. 4, 34.
14. De Jesús-Cortés, H., Xu, P., Drawbridge, J., Estill, S. J., Huntington, P., Tran, S., Britt, J., Tesla, R., Morlock, L., Naidoo, J. et al. (2012). Neuroprotective efficacy of aminopropyl carbazoles in a mouse model of Parkinson disease. Proc. Natl. Acad. Sci. USA 109, 17010-17015.
15. Dekker, M. C., Galjaard, R. J., Snijders, P. J., Heutink, P., Oostra, B. A. and van Duijn, C. M. (2004). Brachydactyly and short stature in a kindred with early-onset parkinsonism. Am. J. Med. Genet. 130A, 102-104.
16. Ekstrand, M. I., Terzioglu, M., Galter, D., Zhu, S., Hofstetter, C., Lindqvist, E., Thams, S., Bergstrand, A., Hansson, F. S., Trifunovic, A. et al. (2007). Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons. Proc. Natl. Acad. Sci. USA 104, 1325-1330.
17. Fearnley, J. M. and Lees, A. J. (1991). Ageing and Parkinson's disease: substantia nigra regional selectivity. Brain 114, 2283-2301.
18. Fleming, S. M., Salcedo, J., Hutson, C. B., Rockenstein, E., Masliah, E., Levine, M. S. and Chesselet, M. F. (2006). Behavioral effects of dopaminergic agonists in transgenic mice overexpressing human wildtype α-synuclein. Neuroscience 142, 1245-1253.
19. Frank-Cannon, T. C., Tran, T., Ruhn, K. A., Martinez, T. N., Hong, J., Marvin, M., Hartley, M., Treviño, I., O'Brien, D. E., Casey, B. et al. (2008). Parkin deficiency increases vulnerability to inflammation-related nigral degeneration. J. Neurosci. 28, 10825-10834.
20. Fujioka, S. and Wszolek, Z. K. (2012). Update on genetics of parkinsonism. Neurodegener. Dis. 10, 257-260.
21. Funayama, M., Hasegawa, K., Kowa, H., Saito, M., Tsuji, S. and Obata, F. (2002). A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann. Neurol. 51, 296-301.
22. Giasson, B. I., Duda, J. E., Quinn, S. M., Zhang, B., Trojanowski, J. Q. and Lee, V. M. (2002). Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein. Neuron 34, 521-533.
23. Gill, A., Kidd, J., Vieira, F., Thompson, K. and Perrin, S. (2009). No benefit from chronic lithium dosing in a sibling-matched, gender balanced, investigator-blinded trial using a standard mouse model of familial ALS. PLoS ONE 4, e6489.
24. Gispert, S., Ricciardi, F., Kurz, A., Azizov, M., Hoepken, H.-H., Becker, D., Voos, W., Leuner, K., Müller, W. E., Kudin, A. P. et al. (2009). Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration. PLoS ONE 4, e5777.
25. 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. (2003). Parkindeficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. J. Biol. Chem. 278, 43628-43635.
26. Hattori, N., Matsumine, H., Asakawa, S., Kitada, T., Yoshino, H., Elibol, B., Brookes, A. J., Yamamura, Y., Kobayashi, T., Wang, M. et al. (1998). Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene. Biochem. Biophys. Res. Commun. 249, 754-758.
27. Healy-Stoffel, M., Ahmad, S. O., Stanford, J. A. and Levant, B. (2012). A novel use of combined tyrosine hydroxylase and silver nucleolar staining to determine the effects of a unilateral intrastriatal 6-hydroxydopamine lesion in the substantia nigra: a stereological study. J. Neurosci. Methods 210, 187-194.
28. Heikkila, R. E., Nicklas, W. J., Vyas, I. and Duvoisin, R. C. (1985). Dopaminergic toxicity of rotenone and the 1-methyl-4-phenylpyridinium ion after their stereotaxic administration to rats: implication for the mechanism of 1-methyl-4-phenyl-1,2,3,6- tetrahydropyridine toxicity. Neurosci. Lett. 62, 389-394.
29. Herzig, M. C., Kolly, C., Persohn, E., Theil, D., Schweizer, T., Hafner, T., Stemmelen, C., Troxler, T. J., Schmid, P., Danner, S. et al. (2011). LRRK2 protein levels are determined by kinase function and are crucial for kidney and lung homeostasis in mice. Hum. Mol. Genet. 20, 4209-4223.
30. Hilton, K., Mueller-Steiner, S., Grajeda, H., Chen, M., Tanaka, P., Motter, R., Devidze, N., Lo, I., Hamto, T., Gardai, S. et al. (2010). Parkinson's disease-like neuronal dysfunction and alterations in a transgenic mouse with BACmid driven human alpha-synuclein with E46K mutation. 2010 Neuroscience Meeting Planner, program number 52.19/M16, online. San Diego, CA: Society for Neuroscience.
31. Houlden, H., Singleton, A. B. (2012). The genetics and neuropathology of Parkinson's disease. Acta Neuropathol. 124, 325-338.
32. Itier, J. M., Ibanez, P., Mena, M. A., Abbas, N., Cohen-Salmon, C., Bohme, G. A., Laville, M., Pratt, J., Corti, O., Pradier, L. et al. (2003). Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Hum. Mol. Genet. 12, 2277-2291.
33. Iwai, A., Masliah, E., Yoshimoto, M., Ge, N., Flanagan, L., de Silva, H. A., Kittel, A. and Saitoh, T. (1995). The precursor protein of non-A beta component of Alzheimer's disease amyloid is a presynaptic protein of the central nervous system. Neuron 14, 467-475.
34. Jellinger, K. A. (2009). Formation and development of Lewy pathology: a critical update. J. Neurol. 256 Suppl 3, 270-279.
35. Kim, R. H., Smith, P. D., Aleyasin, H., Hayley, S., Mount, M. P., Pownall, S., Wakeham, A., You-Ten, A. J., Kalia, S. K., Horne, P. et al. (2005). Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6- tetrahydropyrindine (MPTP) and oxidative stress. Proc. Natl. Acad. Sci. USA 102, 5215-5220.
36. Kitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y. and Shimizu, N. (1998). Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392, 605-608.
37. Krüger, R., Kuhn, W., Müller, T., Woitalla, D., Graeber, M., Kösel, S., Przuntek, H., Epplen, J. T., Schöls, L. and Riess, O. (1998). Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat. Genet. 18, 106-108.
38. Kuo, Y. M., Li, Z., Jiao, Y., Gaborit, N., Pani, A. K., Orrison, B. M., Bruneau, B. G., Giasson, B. I., Smeyne, R. J., Gershon, M. D. et al. (2010). Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated α-synuclein gene mutations precede central nervous system changes. Hum. Mol. Genet. 19, 1633-1650.
39. Lees, A. J., Hardy, J. and Revesz, T. (2009). Parkinson's disease. Lancet 373, 2055-2066.
40. Li, Y., Liu, W., Oo, T. F., Wang, L., Tang, Y., Jackson-Lewis, V., Zhou, C., Geghman, K., Bogdanov, M., Przedborski, S. et al. (2009). Mutant LRRK2(R1441G) BAC transgenic mice recapitulate cardinal features of Parkinson's disease. Nat. Neurosci. 12, 826-828.
41. Lwin, A., Orvisky, E., Goker-Alpan, O., LaMarca, M. E. and Sidransky, E. (2004). Glucocerebrosidase mutations in subjects with parkinsonism. Mol. Genet. Metab. 81, 70-73.
42. Machaczka, M., Rucinska, M., Skotnicki, A. B. and Jurczak, W. (1999). Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am. J. Hematol. 61, 216-217.
43. MacLeod, D. A., Rhinn, H., Kuwahara, T., Zolin, A., Di Paolo, G., McCabe, B. D., Marder, K. S., Honig, L. S., Clark, L. N., Small, S. A. et al. (2013). RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk. Neuron 77, 425-439.
44. Magen, I. and Chesselet, M. F. (2010). Genetic mouse models of Parkinson's disease: The state of the art. Prog. Brain Res. 184, 53-87.
45. Marras, C., Schüle, B., Munhoz, R. P., Rogaeva, E., Langston, J. W., Kasten, M., Meaney, C., Klein, C., Wadia, P. M., Lim, S. Y. et al. (2011). Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. Neurology 77, 325-333.
46. Meissner, W. G., Frasier, M., Gasser, T., Goetz, C. G., Lozano, A., Piccini, P., Obeso, J. A., Rascol, O., Schapira, A., Voon, V. et al. (2011). Priorities in Parkinson's disease research. Nat. Rev. Drug Discov. 10, 377-393.
47. Melrose, H. (2008). Update on the functional biology of Lrrk2. Future Neurol. 3, 669-681.
48. Moore, D. J., Zhang, L., Troncoso, J., Lee, M. K., Hattori, N., Mizuno, Y., Dawson, T. M. and Dawson, V. L. (2005). Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress. Hum. Mol. Genet. 14, 71-84.
49. Murphy, D. D., Rueter, S. M., Trojanowski, J. Q. and Lee, V. M. (2000). Synucleins are developmentally expressed, and alpha-synuclein regulates the size of the presynaptic vesicular pool in primary hippocampal neurons. J. Neurosci. 20, 3214-3220.
50. Ness, D., Ren, Z., Gardai, S., Sharpnack, D., Johnson, V. J., Brennan, R. J., Brigham, E. F. and Olaharski, A. J. (2013). Leucine-rich repeat kinase 2 (LRRK2)-deficient rats exhibit renal tubule injury and perturbations in metabolic and immunological homeostasis. PLoS ONE 8, e66164.
51. Neudorfer, O., Giladi, N., Elstein, D., Abrahamov, A., Turezkite, T., Aghai, E., Reches, A., Bembi, B. and Zimran, A. (1996). Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 89, 691-694.
52. Neumann, J., Bras, J., Deas, E., O'Sullivan, S. S., Parkkinen, L., Lachmann, R. H., Li, A., Holton, J., Guerreiro, R., Paudel, R. et al. (2009). Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 132, 1783-1794.
53. Palacino, J. J., Sagi, D., Goldberg, M. S., Krauss, S., Motz, C., Wacker, M., Klose, J. and Shen, J. (2004). Mitochondrial dysfunction and oxidative damage in parkindeficient mice. J. Biol. Chem. 279, 18614-18622.
54. Parkkinen, L., Neumann, J., O'Sullivan, S. S., Holton, J. L., Revesz, T., Hardy, J. and Lees, A. J. (2011). Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease. Mol. Genet. Metab. 103, 410-412.
55. Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R. et al. (1997). Mutation in the alphasynuclein gene identified in families with Parkinson's disease. Science 276, 2045-2047.
56. Potashkin, J. A., Blume, S. R. and Runkle, N. K. (2010). Limitations of animal models of Parkinson's disease. Parkinsons Dis. 2011, 658083. 10.4061/2011/658083
57. Prasad, K., Tarasewicz, E., Strickland, P. A., O'Neill, M., Mitchell, S. N., Merchant, K., Tep, S., Hilton, K., Datwani, A., Buttini, M. et al. (2011). Biochemical and morphological consequences of human α-synuclein expression in a mouse α- synuclein null background. Eur. J. Neurosci. 33, 642-656.
58. Przedborski, S., Jackson-Lewis, V., Naini, A. B., Jakowec, M., Petzinger, G., Miller, R. and Akram, M. (2001). The parkinsonian toxin 1-methyl-4-phenyl-1,2,3,6- tetrahydropyridine (MPTP): a technical review of its utility and safety. J. Neurochem. 76, 1265-1274.
59. Quang, C., Dunbar, B. D., Witters-Teulings, C., Myers, N. R., Nethero, W. C., Beck, M. J., Schlosser, M. D. and Kuldip, D. D. (2012) Neurotransmitters in the Striatum Tissues From Animal Brain: Uplc-Mc/Ms Method Validation and Application to Animal Models of Parkinson's Disease. AMS 60th Conference on Mass Spectrometry and Allied Topics, Vancouver, Canada, May 20-24, Biomarkers section 024.
60. Rockenstein, E., Mallory, M., Hashimoto, M., Song, D., Shults, C. W., Lang, I. and Masliah, E. J. (2002). Differential neuropathological alterations in transgenic mice expressing alpha-synuclein from the platelet-derived growth factor and Thy-1 promoters. J. Neurosci. Res. 68, 568-578.
61. Silvestri, L., Caputo, V., Bellacchio, E., Atorino, L., Dallapiccola, B., Valente, E. M. and Casari, G. (2005). Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum. Mol. Genet. 14, 3477-3492.
62. Simón-Sánchez, J., Schulte, C., Bras, J. M., Sharma, M., Gibbs, J. R., Berg, D., Paisan-Ruiz, C., Lichtner, P., Scholz, S. W., Hernandez, D. G. et al. (2009). Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat. Genet. 41, 1308-1312.
63. Singleton, A. B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R. et al. (2003). alpha-Synuclein locus triplication causes Parkinson's disease. Science 302, 841.
64. Sotiriou, E., Vassilatis, D. K., Vila, M. and Stefanis, L. (2010). Selective noradrenergic vulnerability in α-synuclein transgenic mice. Neurobiol. Aging 31, 2103-2114.
65. Tong, Y., Pisani, A., Martella, G., Karouani, M., Yamaguchi, H., Pothos, E. N. and Shen, J. (2009). R1441C mutation in LRRK2 impairs dopaminergic neurotransmission in mice. Proc. Natl. Acad. Sci. USA 106, 14622-14627.
66. Tong, Y., Yamaguchi, H., Giaime, E., Boyle, S., Kopan, R., Kelleher, R. J., 3rd and Shen, J. (2010). Loss of leucine-rich repeat kinase 2 causes impairment of protein degradation pathways, accumulation of alpha-synuclein, and apoptotic cell death in aged mice. Proc. Natl. Acad. Sci. USA 107, 9879-9884.
67. Valente, E. M., Abou-Sleiman, P. M., Caputo, V., Muqit, M. M., Harvey, K., Gispert, S., Ali, Z., Del Turco, D., Bentivoglio, A. R., Healy, D. G. et al. (2004). Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304, 1158-1160.
68. Vilariño-Güell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Cobb, S. A., Wilhoite, G. J., Bacon, J. A. et al. (2011). VPS35 mutations in Parkinson disease. Am. J. Hum. Genet. 89, 162-167.
69. Weintraub, D., Moberg, P. J., Duda, J. E., Katz, I. R. and Stern, M. B. (2004). Effect of psychiatric and other nonmotor symptoms on disability in Parkinson's disease. J. Am. Geriatr. Soc. 52, 784-788.
70. West, A. B., Moore, D. J., Biskup, S., Bugayenko, A., Smith, W. W., Ross, C. A., Dawson, V. L. and Dawson, T. M. (2005). Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc. Natl. Acad. Sci. USA 102, 16842-16847.
71. Wider, C., Skipper, L., Solida, A., Brown, L., Farrer, M., Dickson, D., Wszolek, Z. K. and Vingerhoets, F. J. (2008). Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family. Parkinsonism Relat. Disord. 14, 465-470.
72. Zarranz, J. J., Alegre, J., Gómez-Esteban, J. C., Lezcano, E., Ros, R., Ampuero, I., Vidal, L., Hoenicka, J., Rodriguez, O., Atarés, B. et al. (2004). The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann. Neurol. 55, 164-173.
73. Zhang, L., Shimoji, M., Thomas, B., Moore, D. J., Yu, S. W., Marupudi, N. I., Torp, R., Torgner, I. A., Ottersen, O. P., Dawson, T. M. et al. (2005). Mitochondrial localization of the Parkinson's disease related protein DJ-1: implications for pathogenesis. Hum. Mol. Genet. 14, 2063-2073.
74. Zimprich, A., Biskup, S., Leitner, P., Lichtner, P., Farrer, M., Lincoln, S., Kachergus, J., Hulihan, M., Uitti, R. J., Calne, D. B. et al. (2004). Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44, 601-607.
75. Zimprich, A., Benet-Pagès, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P. et al. (2011). A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet. 89, 168-175.