Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle

Progress in Neurobiology

Volumn 125, Issue , 2015, Pages 47-62

  Sardi, S Pablo ^a   Cheng, Seng H ^a   Shihabuddin, Lamya S ^a  

^a SANOFI   (France)

Author keywords

Alpha synuclein; Dementia with Lewy bodies; Gaucher disease; GBA1; Glucocerebrosidase; Parkinson's disease

Indexed keywords

ALPHA SYNUCLEIN; CHAPERONE; GLUCOSYLCERAMIDASE;

CELL TRANSFER; CLINICAL FEATURE; DEGENERATIVE DISEASE; ENDOPLASMIC RETICULUM STRESS; ENZYME REPLACEMENT; GAUCHER DISEASE; GENE MUTATION; GENE TARGETING; GENETIC RISK; HUMAN; NECROPTOSIS; NONHUMAN; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SYNUCLEINOPATHY; COMPLICATION; GENETICS; METABOLISM; MUTATION; NEURODEGENERATIVE DISEASES;

ALPHA-SYNUCLEIN; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MUTATION; NEURODEGENERATIVE DISEASES;

EID: 84922216790     PISSN: 03010082     EISSN: 18735118     Source Type: Journal    
DOI: 10.1016/j.pneurobio.2014.12.001     Document Type: Review

References (198)

1. Aflaki E., Stubblefield B.K., Maniwang E., Lopez G., Moaven N., Goldin E., Marugan J., Patnaik S., Dutra A., Southall N., Zheng W., Tayebi N., Sidransky E. Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs. Sci. Transl. Med. 2014, 6:240-273.
2. Agosta F., Kostic V.S., Davidovic K., Kresojevic N., Sarro L., Svetel M., Stankovic I., Comi G., Klein C., Filippi M. White matter abnormalities in Parkinson's disease patients with glucocerebrosidase gene mutations. Mov. Disord. 2013, 28:772-778.
3. Alcalay R.N., Caccappolo E., Mejia-Santana H., Tang M., Rosado L., Orbe Reilly M., Ruiz D., Ross B., Verbitsky M., Kisselev S., Louis E., Comella C., Colcher A., Jennings D., Nance M., Bressman S., Scott W.K., Tanner C., Mickel S., Andrews H., Waters C., Fahn S., Cote L., Frucht S., Ford B., Rezak M., Novak K., Friedman J.H., Pfeiffer R., Marsh L., Hiner B., Siderowf A., Payami H., Molho E., Factor S., Ottman R., Clark L.N., Marder K. Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. Neurology 2012, 78:1434-1440.
4. Alcalay R.N., Dinur T., Quinn T., Sakanaka K., Levy O., Waters C., Fahn S., Dorovski T., Chung W.K., Pauciulo M., Nichols W., Rana H.Q., Balwani M., Bier L., Elstein D., Zimran A. Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol. 2014, 71:752-757.
5. Alegre-Abarrategui J., Christian H., Lufino M.M., Mutihac R., Venda L.L., Ansorge O., Wade-Martins R. LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model. Hum. Mol. Genet. 2009, 18:4022-4034.
6. Almeida M.R. Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies. Front. Neurol. 2012, 3:65.
7. Alvarez-Erviti L., Seow Y., Schapira A.H., Gardiner C., Sargent I.L., Wood M.J., Cooper J.M. Lysosomal dysfunction increases exosome-mediated alpha-synuclein release and transmission. Neurobiol. Dis. 2011, 42:360-367.
8. Angeli A., Mencacci N.E., Duran R., Aviles-Olmos I., Kefalopoulou Z., Candelario J., Rusbridge S., Foley J., Pradhan P., Jahanshahi M., Zrinzo L., Hariz M., Wood N.W., Hardy J., Limousin P., Foltynie T. Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. Mov. Disord. 2013, 28:1370-1375.
9. Argyriou A., Dermentzaki G., Papasilekas T., Moraitou M., Stamboulis E., Vekrellis K., Michelakakis H., Stefanis L. Increased dimerization of alpha-synuclein in erythrocytes in Gaucher disease and aging. Neurosci. Lett. 2012, 528:205-209.
10. Ashe K.M., Bangari D., Li L., Cabrera-Salazar M.A., Bercury S.D., Nietupski J.B., Cooper C.G., Aerts J.M., Lee E.R., Copeland D.P., Cheng S.H., Scheule R.K., Marshall J. Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease. PLoS ONE 2011, 6:e21758.
11. Ashrafi G., Schwarz T.L. The pathways of mitophagy for quality control and clearance of mitochondria. Cell Death Differ. 2013, 20:31-42.
12. Asselta R., Rimoldi V., Siri C., Cilia R., Guella I., Tesei S., Solda G., Pezzoli G., Duga S., Goldwurm S. Glucocerebrosidase mutations in primary parkinsonism. Parkinsonism Relat. Disord. 2014, 20:1215-1220.
13. Bae E.J., Yang N.Y., Song M., Lee C.S., Lee J.S., Jung B.C., Lee H.J., Kim S., Masliah E., Sardi S.P., Lee S.J. Glucocerebrosidase depletion enhances cell-to-cell transmission of alpha-synuclein. Nat. Commun. 2014, 5:4755.
14. Barrett M.J., Giraldo P., Capablo J.L., Alfonso P., Irun P., Garcia-Rodriguez B., Pocovi M., Pastores G.M. Greater risk of parkinsonism associated with non-N370S GBA1 mutations. J. Inherit. Metab. Dis. 2013, 36:575-580.
15. Barrett M.J., Shanker V.L., Severt W.L., Raymond D., Gross S.J., Schreiber-Agus N., Kornreich R., Ozelius L.J., Bressman S.B., Saunders-Pullman R. Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease. JIMD Reports 2014.
16. Bartels T., Choi J.G., Selkoe D.J. α-Synuclein occurs physiologically as a helically folded tetramer that resists aggregation. Nature 2011, 477:107-110.
17. Barton N.W., Brady R.O., Dambrosia J.M., Di Bisceglie A.M., Doppelt S.H., Hill S.C., Mankin H.J., Murray G.J., Parker R.I., Argoff C.E., et al. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. N. Engl. J. Med. 1991, 324:1464-1470.
18. Bartus R.T., Weinberg M.S., Samulski R.J. Parkinson's disease gene therapy: success by design meets failure by efficacy. Mol. Ther. 2014, 22:487-497.
19. Beavan M.S., Schapira A.H. Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Ann. Med. 2013, 45:511-521.
20. Becker J.G., Pastores G.M., Di Rocco A., Ferraris M., Graber J.J., Sathe S. Parkinson's disease in patients and obligate carriers of Gaucher disease. Parkinsonism Relat. Disord. 2013, 19:129-131.
21. Bembi B., Zambito Marsala S., Sidransky E., Ciana G., Carrozzi M., Zorzon M., Martini C., Gioulis M., Pittis M.G., Capus L. Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology 2003, 61:99-101.
22. Bendor J.T., Logan T.P., Edwards R.H. The function of alpha-synuclein. Neuron 2013, 79:1044-1066.
23. Berg D., Lang A.E., Postuma R.B., Maetzler W., Deuschl G., Gasser T., Siderowf A., Schapira A.H., Oertel W., Obeso J.A., Olanow C.W., Poewe W., Stern M. Changing the research criteria for the diagnosis of Parkinson's disease: obstacles and opportunities. Lancet Neurol. 2013, 12:514-524.
24. Beutler E., Gelbart T. Gaucher disease mutations in non-Jewish patients. Br. J. Haematol. 1993, 85:401-405.
25. Bonifati V. Genetics of Parkinson's disease - state of the art, 2013. Parkinsonism Relat. Disord. 2014, 20(Suppl. 1):S23-S28.
26. Boyd R.E., Lee G., Rybczynski P., Benjamin E.R., Khanna R., Wustman B.A., Valenzano K.J. Pharmacological chaperones as therapeutics for lysosomal storage diseases. J. Med. Chem. 2013, 56:2705-2725.
27. Braak H., Braak E. Pathoanatomy of Parkinson's disease. J. Neurol. 2000, 247(Suppl. 2):II3-II10.
28. Brady R.O., Kanfer J.N., Bradley R.M., Shapiro D. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J. Clin. Invest. 1966, 45:1112-1115.
29. Bras J., Guerreiro R., Darwent L., Parkkinen L., Ansorge O., Escott-Price V., Hernandez D.G., Nalls M.A., Clark L.N., Honig L.S., Marder K., Van Der Flier W.M., Lemstra A., Scheltens P., Rogaeva E., St George-Hyslop P., Londos E., Zetterberg H., Ortega-Cubero S., Pastor P., Ferman T.J., Graff-Radford N.R., Ross O.A., Barber I., Braae A., Brown K., Morgan K., Maetzler W., Berg D., Troakes C., Al-Sarraj S., Lashley T., Compta Y., Revesz T., Lees A., Cairns N., Halliday G.M., Mann D., Pickering-Brown S., Dickson D.W., Singleton A., Hardy J. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum. Mol. Genet. 2014, 23:6139-6146.
30. Brockmann K., Srulijes K., Hauser A.K., Schulte C., Csoti I., Gasser T., Berg D. GBA-associated PD presents with nonmotor characteristics. Neurology 2011, 77:276-280.
31. Bultron G., Kacena K., Pearson D., Boxer M., Yang R., Sathe S., Pastores G., Mistry P.K. The risk of Parkinson's disease in type 1 Gaucher disease. J. Inherit. Metab. Dis. 2010, 33:167-173.
32. Burre J., Sharma M., Sudhof T.C. alpha-Synuclein assembles into higher-order multimers upon membrane binding to promote SNARE complex formation. Proc. Natl. Acad. Sci. U. S. A. 2014, 111:E4274-E4283.
33. Cabrera-Salazar M.A., Bercury S.D., Ziegler R.J., Marshall J., Hodges B.L., Chuang W.L., Pacheco J., Li L., Cheng S.H., Scheule R.K. Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher disease. Exp. Neurol. 2010, 225:436-444.
34. Cabrera-Salazar M.A., Deriso M., Bercury S.D., Li L., Lydon J.T., Weber W., Pande N., Cromwell M.A., Copeland D., Leonard J., Cheng S.H., Scheule R.K. Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease. PLoS ONE 2012, 7:e43310.
35. Chahine L.M., Qiang J., Ashbridge E., Minger J., Yearout D., Horn S., Colcher A., Hurtig H.I., Lee V.M., Van Deerlin V.M., Leverenz J.B., Siderowf A.D., Trojanowski J.Q., Zabetian C.P., Chen-Plotkin A. Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations. JAMA Neurol. 2013, 70:852-858.
36. Chaudhuri K.R., Schapira A.H. Non-motor symptoms of Parkinson's disease: dopaminergic pathophysiology and treatment. Lancet Neurol. 2009, 8:464-474.
37. Chauhan S., Goodwin J.G., Chauhan S., Manyam G., Wang J., Kamat A.M., Boyd D.D. ZKSCAN3 is a master transcriptional repressor of autophagy. Mol. Cell 2013, 50:16-28.
38. Cheng S.H. Gene therapy for the neurological manifestations in lysosomal storage disorders. J. Lipid Res. 2014, 55:1827-1838.
39. Chung C.Y., Khurana V., Auluck P.K., Tardiff D.F., Mazzulli J.R., Soldner F., Baru V., Lou Y., Freyzon Y., Cho S., Mungenast A.E., Muffat J., Mitalipova M., Pluth M.D., Jui N.T., Schule B., Lippard S.J., Tsai L.H., Krainc D., Buchwald S.L., Jaenisch R., Lindquist S. Identification and rescue of alpha-synuclein toxicity in Parkinson patient-derived neurons. Science 2013, 342:983-987.
40. Clark L.N., Kartsaklis L.A., Wolf Gilbert R., Dorado B., Ross B.M., Kisselev S., Verbitsky M., Mejia-Santana H., Cote L.J., Andrews H., Vonsattel J.P., Fahn S., Mayeux R., Honig L.S., Marder K. Association of glucocerebrosidase mutations with dementia with Lewy bodies. Arch. Neurol. 2009, 66:578-583.
41. Clark L.N., Ross B.M., Wang Y., Mejia-Santana H., Harris J., Louis E.D., Cote L.J., Andrews H., Fahn S., Waters C., Ford B., Frucht S., Ottman R., Marder K. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology 2007, 69:1270-1277.
42. Cleeter M.W., Chau K.Y., Gluck C., Mehta A., Hughes D.A., Duchen M., Wood N.W., Hardy J., Mark Cooper J., Schapira A.H. Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem. Int. 2013, 62:1-7.
43. Cooper A.A., Gitler A.D., Cashikar A., Haynes C.M., Hill K.J., Bhullar B., Liu K., Xu K., Strathearn K.E., Liu F., Cao S., Caldwell K.A., Caldwell G.A., Marsischky G., Kolodner R.D., Labaer J., Rochet J.C., Bonini N.M., Lindquist S. Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models. Science 2006, 313:324-328.
44. Corti O., Lesage S., Brice A. What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol. Rev. 2011, 91:1161-1218.
45. Cox T., Lachmann R., Hollak C., Aerts J., van Weely S., Hrebicek M., Platt F., Butters T., Dwek R., Moyses C., Gow I., Elstein D., Zimran A. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000, 355:1481-1485.
46. Cox T.M. Gaucher's disease - an exemplary monogenic disorder. QJM 2001, 94:399-402.
47. Cuervo A.M., Stefanis L., Fredenburg R., Lansbury P.T., Sulzer D. Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. Science 2004, 305:1292-1295.
48. Cullen V., Sardi S.P., Ng J., Xu Y.H., Sun Y., Tomlinson J.J., Kolodziej P., Kahn I., Saftig P., Woulfe J., Rochet J.C., Glicksman M.A., Cheng S.H., Grabowski G.A., Shihabuddin L.S., Schlossmacher M.G. Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alpha-synuclein processing. Ann. Neurol. 2011, 69:940-953.
49. Decressac M., Mattsson B., Weikop P., Lundblad M., Jakobsson J., Bjorklund A. TFEB-mediated autophagy rescues midbrain dopamine neurons from alpha-synuclein toxicity. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:E1817-E1826.
50. Dehay B., Bove J., Rodriguez-Muela N., Perier C., Recasens A., Boya P., Vila M. Pathogenic lysosomal depletion in Parkinson's disease. J. Neurosci. 2010, 30:12535-12544.
51. Dehay B., Martinez-Vicente M., Caldwell G.A., Caldwell K.A., Yue Z., Cookson M.R., Klein C., Vila M., Bezard E. Lysosomal impairment in Parkinson's disease. Mov. Disord. 2013, 28:725-732.
52. Dehay B., Ramirez A., Martinez-Vicente M., Perier C., Canron M.H., Doudnikoff E., Vital A., Vila M., Klein C., Bezard E. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration. Proc. Natl. Acad. Sci. U. S. A. 2012, 109:9611-9616.
53. Dermentzaki G., Dimitriou E., Xilouri M., Michelakakis H., Stefanis L. Loss of beta-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells. PLOS ONE 2013, 8:e60674.
54. Desplats P., Lee H.J., Bae E.J., Patrick C., Rockenstein E., Crews L., Spencer B., Masliah E., Lee S.J. Inclusion formation and neuronal cell death through neuron-to-neuron transmission of alpha-synuclein. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:13010-13015.
55. Do C.B., Tung J.Y., Dorfman E., Kiefer A.K., Drabant E.M., Francke U., Mountain J.L., Goldman S.M., Tanner C.M., Langston J.W., Wojcicki A., Eriksson N. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet. 2011, 7:e1002141.
56. Emmanouilidou E., Melachroinou K., Roumeliotis T., Garbis S.D., Ntzouni M., Margaritis L.H., Stefanis L., Vekrellis K. Cell-produced alpha-synuclein is secreted in a calcium-dependent manner by exosomes and impacts neuronal survival. J. Neurosci. 2010, 30:6838-6851.
57. Fabelo N., Martin V., Santpere G., Marin R., Torrent L., Ferrer I., Diaz M. Severe alterations in lipid composition of frontal cortex lipid rafts from Parkinson's disease and incidental Parkinson's disease. Mol. Med. 2011, 17:1107-1118.
58. Farfel-Becker T., Vitner E.B., Kelly S.L., Bame J.R., Duan J., Shinder V., Merrill A.H., Dobrenis K., Futerman A.H. Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration. Hum. Mol. Genet. 2014, 23:843-854.
59. Farrer M.J. Genetics of Parkinson disease: paradigm shifts and future prospects. Nat. Rev. Genet. 2006, 7:306-318.
60. Fishbein I., Kuo Y.M., Giasson B.I., Nussbaum R.L. Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain 2014, 137:3235-3247.
61. Fortin D.L., Troyer M.D., Nakamura K., Kubo S., Anthony M.D., Edwards R.H. Lipid rafts mediate the synaptic localization of alpha-synuclein. J. Neurosci. 2004, 24:6715-6723.
62. Fratantoni J.C., Hall C.W., Neufeld E.F. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 1968, 162:570-572.
63. Gan-Or Z., Giladi N., Rozovski U., Shifrin C., Rosner S., Gurevich T., Bar-Shira A., Orr-Urtreger A. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology 2008, 70:2277-2283.
64. Gaucher P.C.E. De l'épithélioma primitif de la rate, hypertrophie idiopathique de la rate sans leucémie 1882, (MD thesis), Paris.
65. Gegg M.E., Burke D., Heales S.J., Cooper J.M., Hardy J., Wood N.W., Schapira A.H. Glucocerebrosidase deficiency in substantia nigra of Parkinson disease brains. Ann. Neurol. 2012, 72:455-463.
66. Ginns E.I., Mak S.K., Ko N., Karlgren J., Akbarian S., Chou V.P., Guo Y., Lim A., Samuelsson S., LaMarca M.L., Vazquez-DeRose J., Manning-Bog A.B. Neuroinflammation and alpha-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction. Mol. Genet. Metab. 2014, 111:152-162.
67. Gitler A.D., Bevis B.J., Shorter J., Strathearn K.E., Hamamichi S., Su L.J., Caldwell K.A., Caldwell G.A., Rochet J.C., McCaffery J.M., Barlowe C., Lindquist S. The Parkinson's disease protein alpha-synuclein disrupts cellular Rab homeostasis. Proc. Natl. Acad. Sci. U. S. A. 2008, 105:145-150.
68. Goedert M., Spillantini M.G., Del Tredici K., Braak H. 100 years of Lewy pathology. Nat. Rev. Neurol. 2013, 9:13-24.
69. Goker-Alpan O., Giasson B.I., Eblan M.J., Nguyen J., Hurtig H.I., Lee V.M., Trojanowski J.Q., Sidransky E. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 2006, 67:908-910.
70. Goker-Alpan O., Masdeu J.C., Kohn P.D., Ianni A., Lopez G., Groden C., Chapman M.C., Cropp B., Eisenberg D.P., Maniwang E.D., Davis J., Wiggs E., Sidransky E., Berman K.F. The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow. Brain 2012, 135:2440-2448.
71. Goker-Alpan O., Schiffmann R., LaMarca M.E., Nussbaum R.L., McInerney-Leo A., Sidransky E. Parkinsonism among Gaucher disease carriers. J. Med. Genet. 2004, 41:937-940.
72. Goker-Alpan O., Stubblefield B.K., Giasson B.I., Sidransky E. Glucocerebrosidase is present in alpha-synuclein inclusions in Lewy body disorders. Acta Neuropathol. 2010, 120:641-649.
73. Grabowski G.A. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008, 372:1263-1271.
74. Grabowski G.A., Leslie N., Wenstrup R. Enzyme therapy for Gaucher disease: the first 5 years. Blood Rev. 1998, 12:115-133.
75. Hall H., Reyes S., Landeck N., Bye C., Leanza G., Double K., Thompson L., Halliday G., Kirik D. Hippocampal Lewy pathology and cholinergic dysfunction are associated with dementia in Parkinson's disease. Brain 2014, 137:2493-2508.
76. Hansen C., Angot E., Bergstrom A.L., Steiner J.A., Pieri L., Paul G., Outeiro T.F., Melki R., Kallunki P., Fog K., Li J.Y., Brundin P. alpha-Synuclein propagates from mouse brain to grafted dopaminergic neurons and seeds aggregation in cultured human cells. J. Clin. Invest. 2011, 121:715-725.
77. Hein L.K., Duplock S., Hopwood J.J., Fuller M. Lipid composition of microdomains is altered in a cell model of Gaucher disease. J. Lipid Res. 2008, 49:1725-1734.
78. Hopfner F., Schulte E.C., Mollenhauer B., Bereznai B., Knauf F., Lichtner P., Zimprich A., Haubenberger D., Pirker W., Brucke T., Peters A., Gieger C., Kuhlenbaumer G., Trenkwalder C., Winkelmann J. The role of SCARB2 as susceptibility factor in Parkinson's disease. Mov. Disord. 2013, 28:538-540.
79. Horowitz M., Tzuri G., Eyal N., Berebi A., Kolodny E.H., Brady R.O., Barton N.W., Abrahamov A., Zimran A. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am. J. Hum. Genet. 1993, 53:921-930.
80. Jovic M., Kean M.J., Szentpetery Z., Polevoy G., Gingras A.C., Brill J.A., Balla T. Two phosphatidylinositol 4-kinases control lysosomal delivery of the Gaucher disease enzyme, beta-glucocerebrosidase. Mol. Biol. Cell 2012, 23:1533-1545.
81. Klein C., Schlossmacher M.G. Parkinson disease, 10 years after its genetic revolution: multiple clues to a complex disorder. Neurology 2007, 69:2093-2104.
82. 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. Nat. Med. 2008, 14:504-506.
83. Korkotian E., Schwarz A., Pelled D., Schwarzmann G., Segal M., Futerman A.H. Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. J. Biol. Chem. 1999, 274:21673-21678.
84. Kraoua I., Sedel F., Caillaud C., Froissart R., Stirnemann J., Chaurand G., Flodrops H., Tari S., Gourfinkel-An I., Mathieu S., Belmatoug N., Billette de Villemeur T., Mignot C. A French experience of type 3 Gaucher disease: phenotypic diversity and neurological outcome of 10 patients. Brain Dev. 2011, 33:131-139.
85. Kurzawa-Akanbi M., Hanson P.S., Blain P.G., Lett D.J., McKeith I.G., Chinnery P.F., Morris C.M. Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease. J. Neurochem. 2012, 123:298-309.
86. Lashuel H.A., Overk C.R., Oueslati A., Masliah E. The many faces of alpha-synuclein: from structure and toxicity to therapeutic target. Nat. Rev. Neurosci. 2013, 14:38-48.
87. Lee H.J., Bae E.J., Lee S.J. Extracellular alpha - synuclein-a novel and crucial factor in Lewy body diseases. Nat. Rev. Neurol. 2014, 10:92-98.
88. Lee H.J., Patel S., Lee S.J. Intravesicular localization and exocytosis of alpha-synuclein and its aggregates. J. Neurosci. 2005, 25:6016-6024.
89. Lee S.J., Desplats P., Sigurdson C., Tsigelny I., Masliah E. Cell-to-cell transmission of non-prion protein aggregates. Nat. Rev. Neurol. 2010, 6:702-706.
90. Lee Y., Karuppagounder S.S., Shin J.H., Lee Y.I., Ko H.S., Swing D., Jiang H., Kang S.U., Lee B.D., Kang H.C., Kim D., Tessarollo L., Dawson V.L., Dawson T.M. Parthanatos mediates AIMP2-activated age-dependent dopaminergic neuronal loss. Nat. Neurosci. 2013, 16:1392-1400.
91. Lesage S., Anheim M., Condroyer C., Pollak P., Durif F., Dupuits C., Viallet F., Lohmann E., Corvol J.C., Honore A., Rivaud S., Vidailhet M., Durr A., Brice A. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum. Mol. Genet. 2010, 20:202-210.
92. Li J.Y., Englund E., Holton J.L., Soulet D., Hagell P., Lees A.J., Lashley T., Quinn N.P., Rehncrona S., Bjorklund A., Widner H., Revesz T., Lindvall O., Brundin P. Lewy bodies in grafted neurons in subjects with Parkinson's disease suggest host-to-graft disease propagation. Nat. Med. 2008, 14:501-503.
93. Li Y., Sekine T., Funayama M., Li L., Yoshino H., Nishioka K., Tomiyama H., Hattori N. Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease. Neurobiol. Aging 2014, 35(935):e933-e938.
94. Lieberman R.L., Wustman B.A., Huertas P., Powe A.C., Pine C.W., Khanna R., Schlossmacher M.G., Ringe D., Petsko G.A. Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. Nat. Chem. Biol. 2007, 3:101-107.
95. Lill C.M., Roehr J.T., McQueen M.B., Kavvoura F.K., Bagade S., Schjeide B.M., Schjeide L.M., Meissner E., Zauft U., Allen N.C., Liu T., Schilling M., Anderson K.J., Beecham G., Berg D., Biernacka J.M., Brice A., DeStefano A.L., Do C.B., Eriksson N., Factor S.A., Farrer M.J., Foroud T., Gasser T., Hamza T., Hardy J.A., Heutink P., Hill-Burns E.M., Klein C., Latourelle J.C., Maraganore D.M., Martin E.R., Martinez M., Myers R.H., Nalls M.A., Pankratz N., Payami H., Satake W., Scott W.K., Sharma M., Singleton A.B., Stefansson K., Toda T., Tung J.Y., Vance J., Wood N.W., Zabetian C.P., Me Genetic Epidemiology of Parkinson's Disease C., International Parkinson's Disease Genomics C., Parkinson's Disease G.C., Wellcome Trust Case Control C., Young P., Tanzi R.E., Khoury M.J., Zipp F., Lehrach H., Ioannidis J.P., Bertram L. Comprehensive Research Synopsis and Systematic Meta-analyses in Parkinson's Disease Genetics: The PDGene database 2012.
96. Lindersson E., Beedholm R., Hojrup P., Moos T., Gai W., Hendil K.B., Jensen P.H. Proteasomal inhibition by alpha-synuclein filaments and oligomers. J. Biol. Chem. 2004, 279:12924-12934.
97. Liu X., Cheng R., Verbitsky M., Kisselev S., Browne A., Mejia-Sanatana H., Louis E.D., Cote L.J., Andrews H., Waters C., Ford B., Frucht S., Fahn S., Marder K., Clark L.N., Lee J.H. Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. BMC Med. Genet. 2011, 12:104.
98. Lonser R.R., Schiffman R., Robison R.A., Butman J.A., Quezado Z., Walker M.L., Morrison P.F., Walbridge S., Murray G.J., Park D.M., Brady R.O., Oldfield E.H. Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease. Neurology 2007, 68:254-261.
99. Lu J., Yang C., Chen M., Ye D.Y., Lonser R.R., Brady R.O., Zhuang Z. Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:21200-21205.
100. Luk K.C., Kehm V., Carroll J., Zhang B., O'Brien P., Trojanowski J.Q., Lee V.M. Pathological alpha-synuclein transmission initiates Parkinson-like neurodegeneration in nontransgenic mice. Science 2012, 338:949-953.
101. Luk K.C., Song C., O'Brien P., Stieber A., Branch J.R., Brunden K.R., Trojanowski J.Q., Lee V.M. Exogenous alpha-synuclein fibrils seed the formation of Lewy body-like intracellular inclusions in cultured cells. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:20051-20056.
102. Lukina E., Watman N., Dragosky M., Pastores G.M., Arreguin E.A., Rosenbaum H., Zimran A., Angell J., Ross L., Puga A.C., Peterschmitt J.M. Eliglustat, an investigational oral therapy for Gaucher disease type 1: phase 2 trial results after 4years of treatment. Blood Cells. Mol. Dis. 2014, 53:274-276.
103. Maegawa G.H., Tropak M.B., Buttner J.D., Rigat B.A., Fuller M., Pandit D., Tang L., Kornhaber G.J., Hamuro Y., Clarke J.T., Mahuran D.J. Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J. Biol. Chem. 2009, 284:23502-23516.
104. Manning-Bog A.B., Schule B., Langston J.W. Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. Neurotoxicology 2009, 30:1127-1132.
105. Maor G., Rencus-Lazar S., Filocamo M., Steller H., Segal D., Horowitz M. Unfolded protein response in Gaucher disease: from human to Drosophila. Orphanet J. Rare Dis. 2013, 8:140.
106. Martinez-Vicente M., Cuervo A.M. Autophagy and neurodegeneration: when the cleaning crew goes on strike. Lancet Neurol. 2007, 6:352-361.
107. Martinez-Vicente M., Talloczy Z., Kaushik S., Massey A.C., Mazzulli J., Mosharov E.V., Hodara R., Fredenburg R., Wu D.C., Follenzi A., Dauer W., Przedborski S., Ischiropoulos H., Lansbury P.T., Sulzer D., Cuervo A.M. Dopamine-modified alpha-synuclein blocks chaperone-mediated autophagy. J. Clin. Invest. 2008, 118:777-788.
108. Mazzulli J.R., Xu Y.H., Sun Y., Knight A.L., McLean P.J., Caldwell G.A., Sidransky E., Grabowski G.A., Krainc D. Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011, 146:37-52.
109. McNeill A., Duran R., Proukakis C., Bras J., Hughes D., Mehta A., Hardy J., Wood N.W., Schapira A.H. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov. Disord. 2012, 27:526-532.
110. McNeill A., Magalhaes J., Shen C., Chau K.Y., Hughes D., Mehta A., Foltynie T., Cooper J.M., Abramov A.Y., Gegg M., Schapira A.H. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain 2014, 137:1481-1495.
111. Mercado G., Valdes P., Hetz C. An ERcentric view of Parkinson's disease. Trends Mol. Med. 2013, 19:165-175.
112. Michelakakis H., Xiromerisiou G., Dardiotis E., Bozi M., Vassilatis D., Kountra P.M., Patramani G., Moraitou M., Papadimitriou D., Stamboulis E., Stefanis L., Zintzaras E., Hadjigeorgiou G.M. Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease. Mov. Disord. 2012, 27:400-405.
113. Mielke M.M., Maetzler W., Haughey N.J., Bandaru V.V., Savica R., Deuschle C., Gasser T., Hauser A.K., Graber-Sultan S., Schleicher E., Berg D., Liepelt-Scarfone I. Plasma ceramide and glucosylceramide metabolism is altered in sporadic Parkinson's disease and associated with cognitive impairment: a pilot study. PLOS ONE 2013, 8:e73094.
114. Miura E., Hasegawa T., Konno M., Suzuki M., Sugeno N., Fujikake N., Geisler S., Tabuchi M., Oshima R., Kikuchi A., Baba T., Wada K., Nagai Y., Takeda A., Aoki M. VPS35 dysfunction impairs lysosomal degradation of alpha-synuclein and exacerbates neurotoxicity in a Drosophila model of Parkinson's disease. Neurobiol. Dis. 2014, 71C:1-13.
115. Murphy K.E., Gysbers A.M., Abbott S.K., Tayebi N., Kim W.S., Sidransky E., Cooper A., Garner B., Halliday G.M. Reduced glucocerebrosidase is associated with increased alpha-synuclein in sporadic Parkinson's disease. Brain 2014, 137:834-848.
116. Nalls M.A., Duran R., Lopez G., Kurzawa-Akanbi M., McKeith I.G., Chinnery P.F., Morris C.M., Theuns J., Crosiers D., Cras P., Engelborghs S., De Deyn P.P., Van Broeckhoven C., Mann D.M., Snowden J., Pickering-Brown S., Halliwell N., Davidson Y., Gibbons L., Harris J., Sheerin U.M., Bras J., Hardy J., Clark L., Marder K., Honig L.S., Berg D., Maetzler W., Brockmann K., Gasser T., Novellino F., Quattrone A., Annesi G., De Marco E.V., Rogaeva E., Masellis M., Black S.E., Bilbao J.M., Foroud T., Ghetti B., Nichols W.C., Pankratz N., Halliday G., Lesage S., Klebe S., Durr A., Duyckaerts C., Brice A., Giasson B.I., Trojanowski J.Q., Hurtig H.I., Tayebi N., Landazabal C., Knight M.A., Keller M., Singleton A.B., Wolfsberg T.G., Sidransky E. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013, 70:727-735.
117. Nalls M.A., Pankratz N., Lill C.M., Do C.B., Hernandez D.G., Saad M., DeStefano A.L., Kara E., Bras J., Sharma M., Schulte C., Keller M.F., Arepalli S., Letson C., Edsall C., Stefansson H., Liu X., Pliner H., Lee J.H., Cheng R., International Parkinson's Disease Genomics Consortium (IPDGC), Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI), 23andMe, GenePD, NeuroGenetics Research Consortium (NGRC), Hussman Institute of Human Genomics (HIHG), Ashkenazi Jewish Dataset Investigator, Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE), North American Brain Expression Consortium (NABEC), United Kingdom Brain Expression Consortium (UKBEC), Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group, Ikram M.A., Ioannidis J.P., Hadjigeorgiou G.M., Bis J.C., Martinez M., Perlmutter J.S., Goate A., Marder K., Fiske B., Sutherland M., Xiromerisiou G., Myers R.H., Clark L.N., Stefansson K., Hardy J.A., Heutink P., Chen H., Wood N.W., Houlden H., Payami H., Brice A., Scott W.K., Gasser T., Bertram L., Eriksson N., Foroud T., Singleton A.B. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat. Genet. 2014, 46:989-993.
118. Neudorfer O., Giladi N., Elstein D., Abrahamov A., Turezkite T., Aghai E., Reches A., Bembi B., Zimran A. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 1996, 89:691-694.
119. Neumann J., Bras J., Deas E., O'Sullivan S.S., Parkkinen L., Lachmann R.H., Li A., Holton J., Guerreiro R., Paudel R., Segarane B., Singleton A., Lees A., Hardy J., Houlden H., Revesz T., Wood N.W. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009, 132:1783-1794.
120. Nichols W.C., Pankratz N., Marek D.K., Pauciulo M.W., Elsaesser V.E., Halter C.A., Rudolph A., Wojcieszek J., Pfeiffer R.F., Foroud T. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009, 72:310-316.
121. Nietupski J.B., Pacheco J.J., Chuang W.L., Maratea K., Li L., Foley J., Ashe K.M., Cooper C.G., Aerts J.M., Copeland D.P., Scheule R.K., Cheng S.H., Marshall J. Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice. Mol. Genet. Metab. 2012, 105:621-628.
122. Nilsson O., Svennerholm L. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J. Neurochem. 1982, 39:709-718.
123. Nixon R.A. The role of autophagy in neurodegenerative disease. Nat. Med. 2013, 19:983-997.
124. Ong D.S., Mu T.W., Palmer A.E., Kelly J.W. Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis. Nat. Chem. Biol. 2010, 6:424-432.
125. Orenstein S.J., Kuo S.H., Tasset I., Arias E., Koga H., Fernandez-Carasa I., Cortes E., Honig L.S., Dauer W., Consiglio A., Raya A., Sulzer D., Cuervo A.M. Interplay of LRRK2 with chaperone-mediated autophagy. Nat. Neurosci. 2013, 16:394-406.
126. Orvisky E., Park J.K., LaMarca M.E., Ginns E.I., Martin B.M., Tayebi N., Sidransky E. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol. Genet. Metab. 2002, 76:262-270.
127. Osellame L.D., Rahim A.A., Hargreaves I.P., Gegg M.E., Richard-Londt A., Brandner S., Waddington S.N., Schapira A.H., Duchen M.R. Mitochondria and quality control defects in a mouse model of Gaucher disease - links to Parkinson's disease. Cell Metab. 2013, 17:941-953.
128. Parkinson J. An Essay on the Shaking Palsy 1817.
129. Parnetti L., Chiasserini D., Persichetti E., Eusebi P., Varghese S., Qureshi M.M., Dardis A., Deganuto M., De Carlo C., Castrioto A., Balducci C., Paciotti S., Tambasco N., Bembi B., Bonanni L., Onofrj M., Rossi A., Beccari T., El-Agnaf O., Calabresi P. Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease. Mov. Disord. 2014, 29:1019-1027.
130. Passini M.A., Bu J., Richards A.M., Treleaven C.M., Sullivan J.A., O'Riordan C.R., Scaria A., Kells A.P., Samaranch L., San Sebastian W., Federici T., Fiandaca M.S., Boulis N.M., Bankiewicz K.S., Shihabuddin L.S., Cheng S.H. Translational fidelity of intrathecal delivery of self-complementary AAV9-survival motor neuron 1 for spinal muscular atrophy. Hum. Gene Ther. 2014, 25:619-630.
131. Pastores G.M. Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease. BioDrugs 2010, 24:41-47.
132. Patnaik S., Zheng W., Choi J.H., Motabar O., Southall N., Westbroek W., Lea W.A., Velayati A., Goldin E., Sidransky E., Leister W., Marugan J.J. Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase. J. Med. Chem. 2012, 55:5734-5748.
133. Pchelina S.N., Nuzhnyi E.P., Emelyanov A.K., Boukina T.M., Usenko T.S., Nikolaev M.A., Salogub G.N., Yakimovskii A.F., Zakharova E.Y. Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases. Neurosci. Lett. 2014, 583:188-193.
134. Polymeropoulos M.H., Lavedan C., Leroy E., Ide S.E., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., Stenroos E.S., Chandrasekharappa S., Athanassiadou A., Papapetropoulos T., Johnson W.G., Lazzarini A.M., Duvoisin R.C., Di Iorio G., Golbe L.I., Nussbaum R.L. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997, 276:2045-2047.
135. Poole R.M. Eliglustat: first global approval. Drugs 2014, 74:1829-1836.
136. Re D.B., Le Verche V., Yu C., Amoroso M.W., Politi K.A., Phani S., Ikiz B., Hoffmann L., Koolen M., Nagata T., Papadimitriou D., Nagy P., Mitsumoto H., Kariya S., Wichterle H., Henderson C.E., Przedborski S. Necroptosis drives motor neuron death in models of both sporadic and familial ALS. Neuron 2014, 81:1001-1008.
137. Reczek D., Schwake M., Schroder J., Hughes H., Blanz J., Jin X., Brondyk W., Van Patten S., Edmunds T., Saftig P. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 2007, 131:770-783.
138. Richter F., Fleming S.M., Watson M., Lemesre V., Pellegrino L., Ranes B., Zhu C., Mortazavi F., Mulligan C.K., Sioshansi P.C., Hean S., De La Rosa K., Khanna R., Flanagan J., Lockhart D.J., Wustman B.A., Clark S.W., Chesselet M.F. A GCase chaperone improves motor function in a mouse model of synucleinopathy. Neurotherapeutics 2014, 11:840-856.
139. Rogaeva E., Hardy J. Gaucher and Parkinson diseases: unexpectedly related. Neurology 2008, 70:2272-2273.
140. Rogers S., Patnaik S., Schoenen F., Zheng W., Choi J., Motabar O., Southall N., Westbroek W., Goldin E., Sidransky E., Leister W., Marugan J.J., Aube J. Discovery, SAR, and biological evaluation of non-inhibitory chaperones of glucocerebrosidase. Probe Reports from the NIH Molecular Libraries Program: Bethesda (MD) 2012.
141. Ron I., Horowitz M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum. Mol. Genet. 2005, 14:2387-2398.
142. Ron I., Rapaport D., Horowitz M. Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease. Hum. Mol. Genet. 2010, 19:3771-3781.
143. Rosenbloom B., Balwani M., Bronstein J.M., Kolodny E., Sathe S., Gwosdow A.R., Taylor J.S., Cole J.A., Zimran A., Weinreb N.J. The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells. Mol. Dis. 2011, 46:95-102.
144. Rothaug M., Zunke F., Mazzulli J.R., Schweizer M., Altmeppen H., Lullmann-Rauch R., Kallemeijn W.W., Gaspar P., Aerts J.M., Glatzel M., Saftig P., Krainc D., Schwake M., Blanz J. LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance. Proc. Natl. Acad. Sci. U. S. A. 2014, 111:15573-15578.
145. Sardi S.P., Clarke J., Kinnecom C., Tamsett T.J., Li L., Stanek L.M., Passini M.A., Grabowski G.A., Schlossmacher M.G., Sidman R.L., Cheng S.H., Shihabuddin L.S. CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc. Natl. Acad. Sci. U S A 2011, 108:12101-12106.
146. Sardi S.P., Clarke J., Viel C., Chan M., Tamsett T.J., Treleaven C.M., Bu J., Sweet L., Passini M.A., Dodge J.C., Yu W.H., Sidman R.L., Cheng S.H., Shihabuddin L.S. Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:3537-3542.
147. Sardi S.P., Singh P., Cheng S.H., Shihabuddin L.S., Schlossmacher M.G. Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models. Neurodegener. Dis. 2012, 10:195-202.
148. Sardiello M., Palmieri M., di Ronza A., Medina D.L., Valenza M., Gennarino V.A., Di Malta C., Donaudy F., Embrione V., Polishchuk R.S., Banfi S., Parenti G., Cattaneo E., Ballabio A. A gene network regulating lysosomal biogenesis and function. Science 2009, 325:473-477.
149. Schlossmacher M. α-synuclein and synucleinopathies. The Dementias 2 2007, 186-215. Butterworth Heinemann, Inc., Oxford. J.H. Growdon, M.N. Rossor (Eds.).
150. Schondorf D.C., Aureli M., McAllister F.E., Hindley C.J., Mayer F., Schmid B., Sardi S.P., Valsecchi M., Hoffmann S., Schwarz L.K., Hedrich U., Berg D., Shihabuddin L.S., Hu J., Pruszak J., Gygi S.P., Sonnino S., Gasser T., Deleidi M. iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis. Nat. Commun. 2014, 5:4028.
151. Segarane B., Li A., Paudel R., Scholz S., Neumann J., Lees A., Revesz T., Hardy J., Mathias C.J., Wood N.W., Holton J., Houlden H. Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy. Neurology 2009, 72:1185-1186.
152. Seto-Salvia N., Pagonabarraga J., Houlden H., Pascual-Sedano B., Dols-Icardo O., Tucci A., Paisan-Ruiz C., Campolongo A., Anton-Aguirre S., Martin I., Munoz L., Bufill E., Vilageliu L., Grinberg D., Cozar M., Blesa R., Lleo A., Hardy J., Kulisevsky J., Clarimon J. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Mov. Disord. 2012, 27:393-399.
153. Settembre C., Fraldi A., Medina D.L., Ballabio A. Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat. Rev. Mol. Cell Biol. 2013, 14:283-296.
154. Shen W., Henry A.G., Paumier K.L., Li L., Mou K., Dunlop J., Berger Z., Hirst W.D. Inhibition of glucosylceramide synthase stimulates autophagy flux in neurons. J. Neurochem. 2014, 129:884-894.
155. Sidransky E., Lopez G. The link between the GBA gene and parkinsonism. Lancet Neurol. 2012, 11:986-998.
156. Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., Bar-Shira A., Berg D., Bras J., Brice A., Chen C.M., Clark L.N., Condroyer C., De Marco E.V., Durr A., Eblan M.J., Fahn S., Farrer M.J., Fung H.C., Gan-Or Z., Gasser T., Gershoni-Baruch R., Giladi N., Griffith A., Gurevich T., Januario C., Kropp P., Lang A.E., Lee-Chen G.J., Lesage S., Marder K., Mata I.F., Mirelman A., Mitsui J., Mizuta I., Nicoletti G., Oliveira C., Ottman R., Orr-Urtreger A., Pereira L.V., Quattrone A., Rogaeva E., Rolfs A., Rosenbaum H., Rozenberg R., Samii A., Samaddar T., Schulte C., Sharma M., Singleton A., Spitz M., Tan E.K., Tayebi N., Toda T., Troiano A.R., Tsuji S., Wittstock M., Wolfsberg T.G., Wu Y.R., Zabetian C.P., Zhao Y., Ziegler S.G. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 2009, 361:1651-1661.
157. Sorge J.A., West C., Kuhl W., Treger L., Beutler E. The human glucocerebrosidase gene has two functional ATG initiator codons. Am. J. Hum. Genet. 1987, 41:1016-1024.
158. Spencer B., Potkar R., Trejo M., Rockenstein E., Patrick C., Gindi R., Adame A., Wyss-Coray T., Masliah E. Beclin 1 gene transfer activates autophagy and ameliorates the neurodegenerative pathology in alpha-synuclein models of Parkinson's and Lewy body diseases. J. Neurosci. 2009, 29:13578-13588.
159. Spencer B.J., Verma I.M. Targeted delivery of proteins across the blood-brain barrier. Proc. Natl. Acad. Sci. U. S. A. 2007, 104:7594-7599.
160. Spillantini M.G., Schmidt M.L., Lee V.M., Trojanowski J.Q., Jakes R., Goedert M. Alpha-synuclein in Lewy bodies. Nature 1997, 388:839-840.
161. Srulijes K., Hauser A.K., Guella I., Asselta R., Brockmann K., Schulte C., Solda G., Cilia R., Maetzler W., Schols L., Wenning G.K., Poewe W., Barone P., Wullner U., Oertel W., Berg D., Goldwurm S., Gasser T. No association of GBA mutations and multiple system atrophy. Eur. J. Neurol 2013, 20:e61-e62.
162. Stefanis L. α-Synuclein in Parkinson's disease. Cold Spring Harb. Perspect. Med. 2012, 2:a009399.
163. Tamargo R.J., Velayati A., Goldin E., Sidransky E. The role of saposin C in Gaucher disease. Mol. Genet. Metab. 2012, 106:257-263.
164. Tan Y.L., Genereux J.C., Pankow S., Aerts J.M., Yates J.R., Kelly J.W. ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease. Chem. Biol. 2014, 21:967-976.
165. Thayanidhi N., Helm J.R., Nycz D.C., Bentley M., Liang Y., Hay J.C. Alpha-synuclein delays endoplasmic reticulum (ER)-to-Golgi transport in mammalian cells by antagonizing ER/Golgi SNAREs. Mol. Biol. Cell 2010, 21:1850-1863.
166. Tofaris G.K. Lysosome-dependent pathways as a unifying theme in Parkinson's disease. Mov. Disord. 2012, 27:1364-1369.
167. Trapero A., Llebaria A. Glucocerebrosidase inhibitors for the treatment of Gaucher disease. Future Med. Chem. 2013, 5:573-590.
168. Tsika E., Glauser L., Moser R., Fiser A., Daniel G., Sheerin U.M., Lees A., Troncoso J.C., Lewis P.A., Bandopadhyay R., Schneider B.L., Moore D.J. Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration. Hum. Mol. Genet. 2014, 23:4621-4638.
169. Tsunemi T., Ashe T.D., Morrison B.E., Soriano K.R., Au J., Roque R.A., Lazarowski E.R., Damian V.A., Masliah E., La Spada A.R. PGC-1alpha rescues Huntington's disease proteotoxicity by preventing oxidative stress and promoting TFEB function. Sci. Transl. Med. 2012, 4(142):ra197.
170. Usenovic M., Tresse E., Mazzulli J.R., Taylor J.P., Krainc D. Deficiency of ATP13A2 leads to lysosomal dysfunction, alpha-synuclein accumulation, and neurotoxicity. J. Neurosci. 2012, 32:4240-4246.
171. Vacic V., Ozelius L.J., Clark L.N., Bar-Shira A., Gana-Weisz M., Gurevich T., Gusev A., Kedmi M., Kenny E.E., Liu X., Mejia-Santana H., Mirelman A., Raymond D., Saunders-Pullman R., Desnick R.J., Atzmon G., Burns E.R., Ostrer H., Hakonarson H., Bergman A., Barzilai N., Darvasi A., Peter I., Guha S., Lencz T., Giladi N., Marder K., Pe'er I., Bressman S.B., Orr-Urtreger A. Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. Hum. Mol. Genet. 2014, 23:4693-4702.
172. Vandenabeele P., Galluzzi L., Vanden Berghe T., Kroemer G. Molecular mechanisms of necroptosis: an ordered cellular explosion. Nat. Rev. Mol. Cell Biol. 2010, 11:700-714.
173. Vekrellis K., Xilouri M., Emmanouilidou E., Rideout H.J., Stefanis L. Pathological roles of alpha-synuclein in neurological disorders. Lancet Neurol. 2011, 10:1015-1025.
174. Velayati A., Yu W.H., Sidransky E. The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr. Neurol. Neurosci. Rep. 2010, 10:190-198.
175. Vilarino-Guell 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., Behrouz B., Melrose H.L., Hentati E., Puschmann A., Evans D.M., Conibear E., Wasserman W.W., Aasly J.O., Burkhard P.R., Djaldetti R., Ghika J., Hentati F., Krygowska-Wajs A., Lynch T., Melamed E., Rajput A., Rajput A.H., Solida A., Wu R.M., Uitti R.J., Wszolek Z.K., Vingerhoets F., Farrer M.J. VPS35 mutations in Parkinson disease. Am. J. Hum. Genet. 2011, 89:162-167.
176. Vitner E.B., Salomon R., Farfel-Becker T., Meshcheriakova A., Ali M., Klein A.D., Platt F.M., Cox T.M., Futerman A.H. RIPK3 as a potential therapeutic target for Gaucher's disease. Nat. Med. 2014, 20:204-208.
177. Wang C., Cai Y., Gu Z., Ma J., Zheng Z., Tang B.S., Xu Y., Zhou Y., Feng T., Wang T., Chen S.D., Chan P., Chinese Parkinson Study Group Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals. Neurobiol. Aging 2014, 35:e721-e726.
178. Wang F., Segatori L. Remodeling the proteostasis network to rescue glucocerebrosidase variants by inhibiting ER-associated degradation and enhancing ER folding. PLoS ONE 2013, 8:e61418.
179. Wang W., Perovic I., Chittuluru J., Kaganovich A., Nguyen L.T., Liao J., Auclair J.R., Johnson D., Landeru A., Simorellis A.K., Ju S., Cookson M.R., Asturias F.J., Agar J.N., Webb B.N., Kang C., Ringe D., Petsko G.A., Pochapsky T.C., Hoang Q.Q. A soluble alpha-synuclein construct forms a dynamic tetramer. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:17797-17802.
180. Watts R.J., Dennis M.S. Bispecific antibodies for delivery into the brain. Curr. Opin. Chem. Biol. 2013, 17:393-399.
181. Winder-Rhodes S.E., Evans J.R., Ban M., Mason S.L., Williams-Gray C.H., Foltynie T., Duran R., Mencacci N.E., Sawcer S.J., Barker R.A. Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain 2013, 136:392-399.
182. Winfield S.L., Tayebi N., Martin B.M., Ginns E.I., Sidransky E. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Genome Res. 1997, 7:1020-1026.
183. Wong K., Sidransky E., Verma A., Mixon T., Sandberg G.D., Wakefield L.K., Morrison A., Lwin A., Colegial C., Allman J.M., Schiffmann R. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol. Genet. Metab. 2004, 82:192-207.
184. Woodard, Chris M., Campos, Brian A., Kuo S.-H., Nirenberg, Melissa J., Nestor, Michael W., Zimmer M., Mosharov E.V., Sulzer D., Zhou H., Paull D., Clark L., Schadt, Eric E., Sardi, Sergio P., Rubin L., Eggan K., Brock M., Lipnick S., Rao M., Chang S., Li A., Noggle, Scott A. iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's Disease. Cell Rep. 2014, 9:1173-1182.
185. Xilouri M., Brekk O.R., Landeck N., Pitychoutis P.M., Papasilekas T., Papadopoulou-Daifoti Z., Kirik D., Stefanis L. Boosting chaperone-mediated autophagy in vivo mitigates alpha-synuclein-induced neurodegeneration. Brain 2013, 136:2130-2146.
186. Xu Y.H., Sun Y., Ran H., Quinn B., Witte D., Grabowski G.A. Accumulation and distribution of alpha-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol. Genet. Metab. 2010, 102:436-447.
187. Xu Y.H., Xu K., Sun Y., Liou B., Quinn B., Li R.H., Xue L., Zhang W., Setchell K.D., Witte D., Grabowski G.A. Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice. Hum. Mol. Genet. 2014, 23:3943-3957.
188. Yang B., Li S., Wang H., Guo Y., Gessler D.J., Cao C., Su Q., Kramer J., Zhong L., Ahmed S.S., Zhang H., He R., Desrosiers R.C., Brown R., Xu Z., Gao G. Global CNS transduction of adult mice by intravenously delivered rAAVrh.8 and rAAVrh.10 and nonhuman primates by rAAVrh.10. Mol. Ther. 2014, 22:1299-1309.
189. Yang C., Rahimpour S., Lu J., Pacak K., Ikejiri B., Brady R.O., Zhuang Z. Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:966-971.
190. Yang C., Swallows C.L., Zhang C., Lu J., Xiao H., Brady R.O., Zhuang Z. Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones. Proc. Natl. Acad. Sci. U. S. A. 2014, 111:249-254.
191. Yap T.L., Gruschus J.M., Velayati A., Sidransky E., Lee J.C. Saposin C protects glucocerebrosidase against alpha-synuclein inhibition. Biochemistry 2013, 52:7161-7163.
192. Yap T.L., Gruschus J.M., Velayati A., Westbroek W., Goldin E., Moaven N., Sidransky E., Lee J.C. Alpha-synuclein interacts with glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. J. Biol. Chem. 2011, 286:28080-28088.
193. Yap T.L., Velayati A., Sidransky E., Lee J.C. Membrane-bound alpha-synuclein interacts with glucocerebrosidase and inhibits enzyme activity. Mol. Genet. Metab. 2013, 108:56-64.
194. Zavodszky E., Seaman M.N., Moreau K., Jimenez-Sanchez M., Breusegem S.Y., Harbour M.E., Rubinsztein D.C. Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy. Nat. Commun. 2014, 5:3828.
195. Ziegler R.J., Salegio E.A., Dodge J.C., Bringas J., Treleaven C.M., Bercury S.D., Tamsett T.J., Shihabuddin L., Hadaczek P., Fiandaca M., Bankiewicz K., Scheule R.K. Distribution of acid sphingomyelinase in rodent and non-human primate brain after intracerebroventricular infusion. Exp. Neurol. 2011, 231:261-271.
196. Zimprich A., Benet-Pages A., Struhal W., Graf E., Eck S.H., Offman M.N., Haubenberger D., Spielberger S., Schulte E.C., Lichtner P., Rossle S.C., Klopp N., Wolf E., Seppi K., Pirker W., Presslauer S., Mollenhauer B., Katzenschlager R., Foki T., Hotzy C., Reinthaler E., Harutyunyan A., Kralovics R., Peters A., Zimprich F., Brucke T., Poewe W., Auff E., Trenkwalder C., Rost B., Ransmayr G., Winkelmann J., Meitinger T., Strom T.M. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet. 2011, 89:168-175.
197. Zimran A., Altarescu G., Elstein D. Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells. Mol. Dis. 2013, 50:134-137.
198. Zokaei N., McNeill A., Proukakis C., Beavan M., Jarman P., Korlipara P., Hughes D., Mehta A., Hu M.T., Schapira A.H., Husain M. Visual short-term memory deficits associated with GBA mutation and Parkinson's disease. Brain 2014, 137:2303-2311.