A lysosomal lair for a pathogenic protein pair

Science Translational Medicine

Volumn 3, Issue 91, 2011, Pages

  Dawson, Ted M ^a,b   Dawson, Valina L ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ADRIENNE HELIS MALVIN MEDICAL RESEARCH FOUNDATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; GLUCOSYLCERAMIDASE;

AUTOPHAGY; DOPAMINERGIC NERVE CELL; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; FEEDBACK SYSTEM; GAUCHER DISEASE; GENE MUTATION; GENETIC RISK; HUMAN; LYSOSOME; NERVE CELL NECROSIS; NONHUMAN; PARKINSON DISEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN PROCESSING; REVIEW; ANIMAL; ARTICLE; BIOLOGICAL MODEL; BRAIN; ENZYMOLOGY; METABOLISM; MOUSE; PATHOLOGY;

ALPHA-SYNUCLEIN; ANIMALS; BRAIN; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; LYSOSOMES; MICE; MODELS, BIOLOGICAL; PARKINSON DISEASE;

EID: 79960363415     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.3002808     Document Type: Review

References (34)

1. J. M. Savitt, V. L. Dawson, T. M. Dawson, Diagnosis and treatment of Parkinson disease: Molecules to medicine. J. Clin. Invest. 116, 1744-1754 (2006).
2. H. Braak, K. Del Tredici, U. Rüb, R. A. de Vos, E. N. Jansen Steur, E. Braak, Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol. Aging 24, 197-211 (2003).
3. C. D. Marsden, Neuromelanin and Parkinson's disease. J. Neural Transm. Suppl. 19, 121-141 (1983).
4. V. M. Lee, J. Q. Trojanowski, Mechanisms of Parkinson's disease linked to pathological alpha-synuclein: New targets for drug discovery. Neuron 52, 33-38 (2006).
5. I. Martin, V. L. Dawson, T. M. Dawson, Recent advances in the genetics of Parkinsons disease. Annu. Rev. Genomics Hum. Genet. (2011).
6. A. J. Lees, J. Hardy, T. Revesz, Parkinson's disease. Lancet 373, 2055-2066 (2009).
7. T. Gasser, Update on the genetics of Parkinson's disease. Mov. Disord. 22, (suppl. 17), S343-S350 (2007).
8. S. Lesage, M. Anheim, C. Condroyer, P. Pollak, F. Durif, C. Dupuits, F. Viallet, E. Lohmann, J. C. Corvol, A. Honoré, S. Rivaud, M. Vidailhet, A. Dürr, A. Brice; French Parkinson's Disease Genetics Study Group, Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum. Mol. Genet. 20, 202-210 (2011).
9. J. DePaolo, O. Goker-Alpan, T. Samaddar, G. Lopez, E. Sidransky, The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov. Disord. 24, 1571-1578 (2009).
10. M. Machaczka, M. Rucinska, A. B. Skotnicki, W. Jurczak, Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am. J. Hematol. 61, 216-217 (1999).
11. O. Neudorfer, N. Giladi, D. Elstein, A. Abrahamov, T. Turezkite, E. Aghai, A. Reches, B. Bembi, A. Zimran, Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 89, 691-694 (1996).
12. J. Aharon-Peretz, H. Rosenbaum, R. Gershoni-Baruch, Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 351, 1972-1977 (2004).
13. J. Neumann, J. Bras, E. Deas, S. S. O'Sullivan, L. Parkkinen, R. H. Lachmann, A. Li, J. Holton, R. Guerreiro, R. Paudel, B. Segarane, A. Singleton, A. Lees, J. Hardy, H. Houlden, T. Revesz, N. W. Wood, Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 132, 1783-1794 (2009).
14. E. Sidransky, M. A. Nalls, J. O. Aasly, J. Aharon-Peretz, G. Annesi, E. R. Barbosa, A. Bar-Shira, D. Berg, J. Bras, A. Brice, C. M. Chen, L. N. Clark, C. Condroyer, E. V. De Marco, A. Dürr, M. J. Eblan, S. Fahn, M. J. Farrer, H. C. Fung, Z. Gan-Or, T. Gasser, R. Gershoni-Baruch, N. Giladi, A. Griffith, T. Gurevich, C. Januario, P. Kropp, A. E. Lang, G. J. Lee-Chen, S. Lesage, K. Marder, I. F. Mata, A. Mirelman, J. Mitsui, I. Mizuta, G. Nicoletti, C. Oliveira, R. Ottman, A. Orr-Urtreger, L. V. Pereira, A. Quattrone, E. Rogaeva, A. Rolfs, H. Rosenbaum, R. Rozenberg, A. Samii, T. Samaddar, C. Schulte, M. Sharma, A. Singleton, M. Spitz, E. K. Tan, N. Tayebi, T. Toda, A. R. Troiano, S. Tsuji, M. Wittstock, T. G. Wolfsberg, Y. R. Wu, C. P. Zabetian, Y. Zhao, S. G. Ziegler, Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 361, 1651-1661 (2009).
15. O. Goker-Alpan, R. Schiffmann, M. E. LaMarca, R. L. Nussbaum, A. McInerney-Leo, E. Sidransky, Parkinsonism among Gaucher disease carriers. J. Med. Genet. 41, 937-940 (2004).
16. N. Tayebi, M. Callahan, V. Madike, B. K. Stubblefield, E. Orvisky, D. Krasnewich, J. J. Fillano, E. Sidransky, Gaucher disease and parkinsonism: A phenotypic and genotypic characterization. Mol. Genet. Metab. 73, 313-321 (2001).
17. K. Wong, E. Sidransky, A. Verma, T. Mixon, G. D. Sandberg, L. K. Wakefield, A. Morrison, A. Lwin, C. Colegial, J. M. Allman, R. Schiffmann, Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol. Genet. Metab. 82, 192-207 (2004).
18. J. R. Mazzulli, Y.-H. Xu, Y. Sun, A. L. Knight, P. J. McLean, G. A. Caldwell, E. Sidransky, G. A. Grabowski, D. Krainc, Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Published online ahead of print. Cell 23, (2011). Published online ahead of print 22 June 2011 10.1016/j.cell.2011.06.001).
19. E. Wong, A. M. Cuervo, Integration of clearance mechanisms: The proteasome and autophagy. Cold Spring Harb. Perspect. Biol. 2, a006734 (2010).
20. D. C. Rubinsztein, The roles of intracellular protein-degradation pathways in neurodegeneration. Nature 443, 780-786 (2006).
21. T. Pan, S. Kondo, W. Le, J. Jankovic, The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease. Brain 131, 1969-1978 (2008).
22. C. W. Olanow, K. S. McNaught, Ubiquitin-proteasome system and Parkinson's disease. Mov. Disord. 21, 1806-1823 (2006).
23. M. Martinez-Vicente, Z. Talloczy, S. Kaushik, A. C. Massey, J. Mazzulli, E. V. Mosharov, R. Hodara, R. Fredenburg, D. C. Wu, A. Follenzi, W. Dauer, S. Przedborski, H. Ischiropoulos, P. T. Lansbury, D. Sulzer, A. M. Cuervo, Dopamine-modified alpha-synuclein blocks chaperone-mediated autophagy. J. Clin. Invest. 118, 777-788 (2008).
24. A. M. Cuervo, L. Stefanis, R. Fredenburg, P. T. Lansbury, D. Sulzer, Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. Science 305, 1292-1295 (2004).
25. M. G. Schlossmacher, V. Cullen, J. Müthing, The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 352, 728-731, author reply 728-731 (2005).
26. N. Thayanidhi, J. R. Helm, D. C. Nycz, M. Bentley, Y. Liang, J. C. Hay, Alpha-synuclein delays endoplasmic reticulum (ER)-to-Golgi transport in mammalian cells by antagonizing ER/Golgi SNAREs. Mol. Biol. Cell 21, 1850-1863 (2010).
27. A. A. Cooper, A. D. Gitler, A. Cashikar, C. M. Haynes, K. J. Hill, B. Bhullar, K. Liu, K. Xu, K. E. Strathearn, F. Liu, S. Cao, K. A. Caldwell, G. A. Caldwell, G. Marsischky, R. D. Kolodner, J. Labaer, J. C. Rochet, N. M. Bonini, S. Lindquist, Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models. Science 313, 324-328 (2006).
28. P. Anglade, S. Vyas, F. Javoy-Agid, M. T. Herrero, P. P. Michel, J. Marquez, A. Mouatt-Prigent, M. Ruberg, E. C. Hirsch, Y. Agid, Apoptosis and autophagy in nigral neurons of patients with Parkinson's disease. Histol. Histopathol. 12, 25-31 (1997).
29. B. Dehay, J. Bové, N. Rodríguez-Muela, C. Perier, A. Recasens, P. Boya, M. Vila, Pathogenic lysosomal depletion in Parkinson's disease. J. Neurosci. 30, 12535-12544 (2010).
30. A. Ramirez, A. Heimbach, J. Gründemann, B. Stiller, D. Hampshire, L. P. Cid, I. Goebel, A. F. Mubaidin, A. L. Wriekat, J. Roeper, A. Al-Din, A. M. Hillmer, M. Karsak, B. Liss, C. G. Woods, M. I. Behrens, C. Kubisch, Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat. Genet. 38, 1184-1191 (2006).
31. T. Shachar, C. L. Bianco, A. Recchia, C. Wiessner, A. Raas-Rothschild, A. H. Futerman, Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond. Mov. Disord. (2011). Published online ahead of print 26 May 2011 (10.1002/mds.23774).
32. V. Cullen, S. P. Sardi, J. Ng, Y. H. Xu, Y. Sun, J. J. Tomlinson, P. Kolodziej, I. Kahn, P. Saftig, J. Woulfe, J. C. Rochet, M. A. Glicksman, S. H. Cheng, G. A. Grabowski, L. S. Shihabuddin, M. G. Schlossmacher, Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing. Ann. Neurol. 69, 940-953 (2011).
33. Y. H. Xu, Y. Sun, H. Ran, B. Quinn, D. Witte, G. A. Grabowski, Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol. Genet. Metab. 102, 436-447 (2011).
34. A. B. Manning-Boǧ, B. Schüle, J. W. Langston, Alphasynuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism. Neurotoxicology 30, 1127-1132 (2009).