From rare to common and back again: 60 years of lysosomal dysfunction

Molecular Genetics and Metabolism

Volumn 117, Issue 2, 2016, Pages 53-65

  Coutinho, Maria Francisca ^a   Alves, Sandra ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

Cancer; Frontotemporal lobar degeneration (FTLD); Gaucher disease (GD); Lysosomal storage disorders (LSDs); Neuronal ceroid lipofuscinosis (NCL); Parkinson's disease (PD)

Indexed keywords

CANCER RISK; FRONTOTEMPORAL DEMENTIA; GAUCHER DISEASE; HUMAN; LYSOSOMAL DYSFUNCTION; LYSOSOME; LYSOSOME STORAGE DISEASE; NEOPLASM; NEURONAL CEROID LIPOFUSCINOSIS; PARKINSON DISEASE; PRIORITY JOURNAL; REVIEW; ANIMAL; COMPLICATION; FRONTOTEMPORAL LOBAR DEGENERATION; GENETICS; LYSOSOMAL STORAGE DISEASES; METABOLISM; MUTATION; NEOPLASMS; RARE DISEASES;

ANIMALS; FRONTOTEMPORAL LOBAR DEGENERATION; HUMANS; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MUTATION; NEOPLASMS; PARKINSON DISEASE; RARE DISEASES;

EID: 84957850264     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.08.008     Document Type: Review

References (175)

1. de Duve C., Pressman Bc, Gianetto R., Wattiaux R., Appelmans F. Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue. Biochem. J. 1955, 60:604-617.
2. Lee R.E. The pathology of Gaucher disease. Gaucher Disease: A Century of Delineation and Research 1982, 177-217. Alan R. Liss, New York, NY. R.J. Desnick, G.A. Grabowsky (Eds.).
3. Cox T.M., Rosenbloom B.E., Barker R.A. Gaucher disease and comorbidities: B-cell malignancy and parkinsonism. Am. J. Hematol. 2015, 90:S25-S28. 10.1002/ajh.24057.
4. 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., Dürr 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.
5. Jellinger K., Anzil A.P., Seemann D., Bernheimer H. Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. Clin. Neuropathol. 1982, 1:31-44.
6. 18F]fluorodopa PET shows striatal dopaminergic dysfunction in juvenile neuronal ceroid lipofuscinosis. J. Neurol. Neurosurg. Psychiatry 1997, 62:622-625.
7. Aberg L., Liewendahl K., Nikkinen P., Autti T., Rinne J.O., Santavuori P. Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms. Neurology 2000, 54:1069-1074.
8. Nijssen P.C., Brusse E., Leyten A.C., Martin J.J., Teepen J.L., Roos R.A. Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. Mov. Disord. 2002, 17:482-487.
9. Saito Y., Suzuki K., Hulette C.M., Murayama S. Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease. J. Neuropathol. Exp. Neurol. 2004, 63:323-328.
10. Suzuki K., Iseki E., Togo T., Yamaguchi A., Katsuse O., Katsuyama K., Kanzaki S., Shiozaki K., Kawanishi C., Yamashita S., Tanaka Y., Yamanaka S., Hirayasu Y. Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses. Acta Neuropathol. 2007, 114:481-489.
11. Hamano K., Hayashi M., Shioda K., Fukatsu R., Mizutani S. Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue. Acta Neuropathol. 2008, 115:547-559.
12. Shachar T., Lo Bianco C., Recchia A., Wiessner C., Raas-Rothschild A., Futerman A.H. Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond. Mov. Disord. 2011, 26:1593-1604.
13. Siebert M., Sidransky E., Westbroek W. Glucocerebrosidase is shaking up the synucleinopathies. Brain 2014, 137:1304-1322.
14. Boland B., Platt F.M. Bridging the age spectrum of neurodegenerative storage diseases. Best. Pract. Res. Clin. Endocrinol. Metab. 2015, 29:127-143. 10.1016/j.beem.2014.08.009.
15. Bellettato C.M., Scarpa M. Pathophysiology of neuropathic lysosomal storage disorders. J. Inherit. Metab. Dis. 2010, 33:347-362.
16. de Duve C., Wattiaux R. Functions of lysosomes. Annu. Rev. Physiol. 1966, 28:435-492.
17. Pryor P.R., Luzio J.P. Delivery of endocytosed membrane proteins to the lysosome. Biochim. Biophys. Acta 2009, 1793:615-624.
18. Tettamanti G., Bassi R., Viani P., Riboni L. Salvage pathways in glycosphingolipid metabolism. Biochimie 2003, 85:423-437.
19. Tay W. Symmetrical changes in the region of the yellow spot in each eye of na infant. Trans. Ophthalmol. Soc. U. K. 1881, 1:55-57.
20. Sachs B. On arrested cerebral development with special reference to cortical pathology. J. Nerv. Ment. Dis. 1887, 14:541-553.
21. Gaucher P. De l'epithelioma primitif de la rate 1882, (MD thesis), Faculté de Médicine, Paris.
22. Fabry J. Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch. Dermatol. Res. 1898, 43:187-200.
23. Niemann A. Ein unbekanntes Krankheitsbild. Jahrb. Kinderheilkd. 1914, 79:1-10.
24. Pick L. Der Morbus Gaucher und die ihm ähnlichen Krankheiten (die lipoidzellige Splenohepatomegalie Typus Niemann und die diabetische Lipoidzellenhypoplasie der Milz). Ergeb. Inn. Med. Kinderheilkd. (Berl.) 1926, 29:519-627.
25. Pompe J.C. Over idiopatische hypertropie van het hart. Ned. Tijdschr. Geneeskd. 1932, 76:304.
26. Hers H.G. Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe's disease). Biochem. J. 1963, 86:11-16.
27. Baudhuin P., Hers H.G., Loeb H. An electron microscopic and biochemical study of type II glycogenosis. Lab. Invest. 1964, 13:1139-1152.
28. de Duve C. From lysosomes to storage diseases and back: a personal reminiscence. Lysosomal Storage Disorders 2007, 1-5. Springer, US. J.A. Barranger, M.A. Cabrera-Salazar (Eds.).
29. Hers H.G. Inborn lysosomal diseases. Gastroenterology 1965, 48:625-633.
30. Van Hoof F., Hers H.G. The abnormalities of lysosomal enzymes in mucopolysacccharidoses. Eur. J. Biochem. 1968, 7:34-44.
31. Brady R.O. The sphingolipidoses. N. Engl. J. Med. 1966, 275:312-318.
32. Brady R.O., Kanfer J.N., Mock M.B., Fredrickson D.S. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc. Natl. Acad. Sci. U. S. A. 1966, 55:366-369.
33. Fratantoni J.C., Hall C.W., Neufeld E.F. The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide. Proc. Natl. Acad. Sci. U. S. A. 1968, 60:699-706.
34. Lysosomes and Storage Diseases 1973, Academic Press, New York. H.G. Hers, F. Van Hoof (Eds.).
35. Ballabio A., Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochim. Biophys. Acta 2009, 1793:684-696.
36. Schultz M.L., Tecedor L., Chang M., Davidson B.L. Clarifying lysosomal storage diseases. Trends Neurosci. 2011, 34:401-410.
37. Parkinson-Lawrence E.J., Shandala T., Prodoehl M., Plew R., Borlace G.N., Brooks D.A. Lysosomal storage disease: revealing lysosomal function and physiology. Physiology (Bethesda) 2010, 25:102-115.
38. Wraith J.E. Lysosomal disorders. Semin. Neonatol. 2002, 7:75-83.
39. Futerman A.H., van Meer G. The cell biology of lysosomal storage disorders. Nat. Rev. Mol. Cell Biol. 2004, 5:554-565.
40. Vellodi A. Lysosomal storage disorders. Br. J. Haematol. 2005, 128:413-431.
41. Vitner E.B., Platt F.M., Futerman A.H. Common and uncommon pathogenic cascades in lysosomal storage diseases. J. Biol. Chem. 2010, 285:20423-20427.
42. Beutler E., Grabowski G. Gaucher disease. The Metabolic and Molecular Bases of Inherited Disease 2001, 3635-3668. McGraw-Hill, New York, NY. 8th edn. C.R. Scriver (Ed.).
43. Vallance H., Ford J. Carrier testing for autosomal-recessive disorders. Crit. Rev. Clin. Lab. Sci. 2003, 40:473-497.
44. Arvio M., Oksanen V., Autio S., Gaily E., Sainio K. Epileptic seizures in aspartylglucosaminuria: a common disorder. Acta Neurol. Scand. 1993, 87:342-344.
45. Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 1988, 10:80-83.
46. Poorthuis B.J., Wevers R.A., Kleijer W.J., Groener J.E., de Jong J.G., van Weely S., Niezen-Koning K.E., van Diggelen O.P. The frequency of lysosomal storage diseases in The Netherlands. Hum. Genet. 1999, 105:151-156.
47. Meikle P.J., Hopwood J.J., Clague A.E., Carey W.F. Prevalence of lysosomal storage disorders. JAMA 1999, 281:249-254.
48. Pinto R., Caseiro C., Lemos M., Lopes L., Fontes A., Ribeiro H., Pinto E., Silva E., Rocha S., Marcão A., Ribeiro I., Lacerda L., Ribeiro G., Amaral O., Sá Miranda M.C. Prevalence of lysosomal storage diseases in Portugal. Eur. J. Hum. Genet. 2004, 12:87-92.
49. Poupetová H., Ledvinová J., Berná L., Dvoráková L., Kozich V., Elleder M. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J. Inherit. Metab. Dis. 2010, 33:387-396.
50. Walkley S.U. Pathogenic cascades in lysosomal disease-why so complex?. J. Inherit. Metab. Dis. 2009, 32:181-189.
51. Walkley S.U., Vanier M.T. Secondary lipid accumulation in lysosomal disease. Biochim. Biophys. Acta 2009, 1793:726-736.
52. Filocamo M., Morrone A. Lysosomal storage disorders: molecular basis and laboratory testing. Hum. Genomics 2011, 5:156-169.
53. Winchester B. Classification of lysosomal storage diseases. Lysosomal Storage Disorders - A Practical Guide 2012, 37-46. Wiley-Blackwell (John Wiley & Sons, Ltd.). 1st edition. A. Metha, B. Winchester (Eds.).
54. Fratantoni J.C., Hall C.W., Neufeld E.F. The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proc. Natl. Acad. Sci. U. S. A. 1969, 64:360-366.
55. Coutinho M.F., Prata M.J., Alves S. Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction. Mol. Genet. Metab. 2012, 105:542-550.
56. Cox T. Current treatments. Lysosomal Storage Disorders - A Practical Guide 2012, 153-165. Wiley-Blackwell (John Wiley & Sons, Ltd.). 1st edition. A. Metha, B. Winchester (Eds.).
57. Giugliani R. The mucopolysaccharidoses. Lysosomal Storage Disorders - A Practical Guide 2012, 94-100. Wiley-Blackwell (John Wiley & Sons, Ltd). 1st edition. A. Metha, B. Winchester (Eds.).
58. Boustany R.M. Lysosomal storage diseases-the horizon expands. Nat. Rev. Neurol. 2013, 9:583-598.
59. Vernon H.J. Inborn errors of metabolism: advances in diagnosis and therapy. JAMA Pediatr. 2015, (Epub ahead of print). 10.1001/jamapediatrics.2015.0754.
60. Gritti A. Gene therapy for lysosomal storage disorders. Expert. Opin. Biol. Ther. 2011, 11:1153-1167.
61. Beck M. Emerging drugs for lysosomal storage diseases. Expert Opin. Emerg. Drugs 2010, 15:495-507.
62. Groen J., Garrer A.H. Adult Gaucher's disease, with special reference to the variations in its clinical course and the value of sternal puncture as an aid to its diagnosis. Blood 1948, 3:1221-1237.
63. Gelfand M.I., Griboff S.I. Gaucher's disease and acute leukemia. J. Mt. Sinai Hosp. N. Y. 1961, 28:278-282. 1961.
64. Davis M., Dorfman J. Gaucher's disease associated with a cerebral astrocytoma. A case report involving an adult. Am. Pract. Dig. Treat. 1961, 12:673-677.
65. Pinkhas J., Djaldetti M., Yaron M. Coincidence of multiple myeloma with Gaucher's disease. Isr. J. Med. Sci. 1965, 1:537-540.
66. Pratt P.W., Kochwa S., Estren S. Immunoglobulin abnormalities in Gaucher's disease. Report of 16 cases. Blood 1968, 31:633-640.
67. Chang-Lo M., Yam L.T., Rubenstone A.I., Schwartz S.O. Gaucher's disease associated with chronic lymphocytic leukaemia, gout and carcinoma. J. Pathol. 1975, 116:203-207.
68. Beutler E. Gaucher's disease in an asymptomatic 72-year-old. JAMA 1977, 237:2529.
69. Dikman S.H., Goldstein M., Kahn T., Leo M.A., Weinreb N. Amyloidosis. An unusual complication of Gaucher's disease. Arch. Pathol. Lab. Med. 1978, 102:460-462.
70. Hanash S.M., Rucknagel D.L., Heidelberger K.P., Radin N.S. Primary amyloidosis associated with Gaucher's disease. Ann. Intern. Med. 1978, 89:639-641.
71. Benjamin D., Joshua H., Djaldetti M., Hazaz B., Pinkhas J. Nonsecretory IgD-kappa multiple myeloma in a patient with Gaucher's disease. Scand. J. Haematol. 1979, 22:179-184.
72. Krause J.R., Bures C., Lee R.E. Acute leukaemia and Gaucher's disease. Scand. J. Haematol. 1979, 23:115-118.
73. Ruestow P.C., Levinson D.J., Catchatourian R., Sreekanth S., Cohen H., Rosenfeld S. Coexistence of IgA myeloma and Gaucher's disease. Arch. Intern. Med. 1980, 140:1115-1116.
74. Chang-Lo M., Yam L.T., Rubenstone A.I. Gaucher's disease. Review of the literature and report of twelve new cases. Am. J. Med. Sci. 1967, 254:303-315.
75. Miller W., Lamon J., Tavasolli M., Longmire R., Beutler E. Multiple myeloma complicating Gaucher's disease. West. J. Med. 1982, 136:122-128.
76. Shoenfeld Y., Gallant L.A., Shaklai M., Livni E., Djaldetti M., Pinkhas J. Gaucher's disease: a disease with chronic stimulation of the immune system. Arch. Pathol. Lab. Med. 1982, 106:388-391.
77. Gal R., Gukovsky-Oren S., Floru S., Djaldetti M., Kessler E. Sequential appearance of breast carcinoma, multiple myeloma and Gaucher's disease. Haematologica 1988, 73:63-65.
78. Goodman S. Nodular sclerosing Hodgkin's disease in association with Gaucher's disease. Clin. Radiol. 1988, 39:326-327.
79. Corbett G.M., Darbyshire P.J., Besley G.T., Parker A.C. Adult Gaucher disease in association with acute leukaemia. Postgrad. Med. J. 1987, 63:899-900.
80. Burstein Y., Rechavi G., Rausen A.R., Frisch B., Spirer Z. Association of Gaucher's disease and lymphoid malignancy in 2 children. Scand. J. Haematol. 1985, 35:445-447.
81. Marti G.E., Ryan E.T., Papadopoulos N.M., Filling-Katz M., Barton N., Fleischer T.A., Rick M., Gralnick H.R. Polyclonal B-cell lymphocytosis and hypergammaglobulinemia in patients with Gaucher disease. Am. J. Hematol. 1988, 29:189-194.
82. Kojiro M., Kage M., Abe H., Imamura M., Shiraishi K., Mizoguchi M. Association of dysgerminoma and Gaucher's disease. Cancer 1983, 51:712-715.
83. Shiran A., Brenner B., Laor A., Tatarsky I. Increased risk of cancer in patients with Gaucher disease. Cancer 1993, 72:219-224.
84. de Fost M., Vom Dahl S., Weverling G.J., Brill N., Brett S., Häussinger D., Hollak C.E. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol. Dis. 2006, 36:53-58.
85. Taddei T.H., Kacena K.A., Yang M., Yang R., Malhotra A., Boxer M., Aleck K.A., Rennert G., Pastores G.M., Mistry P.K. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am. J. Hematol. 2009, 84:208-214.
86. Choy F.Y., Campbell T.N. Gaucher disease and cancer: concept and controversy. Int. J. Cell Biol. 2011, 2011:150450.
87. Rosenbloom B.E., Weinreb N.J., Zimran A., Kacena K.A., Charrow J., Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood 2005, 105:4569-4572.
88. Zimran A., Liphshitz I., Barchana M., Abrahamov A., Elstein D. Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol. Dis. 2005, 34:197-200.
89. Levi F., Lucchini F., Negri E., Boyle P., La Vecchia C. Cancer mortality in Europe, 1995-1999, and an overview of trends since 1960. Int. J. Cancer 2004, 110:155-169. (Erratum in: Int J Cancer. 2004; 111:981).
90. Rosenbloom B.E., Becker P., Weinreb N. Multiple myeloma and Gaucher genes. Genet. Med. 2009, 11:134.
91. Zimran A., Ilan Y., Elstein D. Enzyme replacement therapy for mild patients with Gaucher disease. Am. J. Hematol. 2009, 84:202-204.
92. Arends M., van Dussen L., Biegstraaten M., Hollak C.E. Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature. Br. J. Haematol. 2013, 161:832-842.
93. Allen M.J., Myer B.J., Khokher A.M., Rushton N., Cox T.M. Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-and interleukin-10. QJM 1997, 90:19-25.
94. Hollak C.E., Evers L., Aerts J.M., van Oers M.H. Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease. Blood Cells Mol. Dis. 1997, 23:201-212.
95. Boot R.G., Verhoek M., de Fost M., Hollak C.E., Maas M., Bleijlevens B., van Breemen M.J., van Meurs M., Boven L.A., Laman J.D., Moran M.T., Cox T.M., Aerts J.M. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 2004, 103:33-39.
96. de Fost M., Out T.A., de Wilde F.A., Tjin E.P., Pals S.T., van Oers M.H., Boot R.G., Aerts J.F., Maas M., Vom Dahl S., Hollak C.E. Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature. Ann. Hematol. 2008, 87:439-449.
97. Brautbar A., Elstein D., Pines G., Abrahamov A., Zimran A. Effect of enzyme replacement therapy on gammopathies in Gaucher disease. Blood Cells Mol. Dis. 2004, 32:214-217.
98. Wine E., Yaniv I., Cohen I.J. Hyperimmunoglobulinemia in pediatric-onset type 1 Gaucher disease and effects of enzyme replacement therapy. J. Pediatr. Hematol. Oncol. 2007, 29:451-457.
99. 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.
100. Tayebi N., Callahan M., Madike V., Stubblefield B.K., Orvisky E., Krasnewich D., Fillano J.J., Sidransky E. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol. Genet. Metab. 2001, 73:313-321.
101. Tayebi N., Walker J., Stubblefield B., Orvisky E., LaMarca M.E., Wong K., Rosenbaum H., Schiffmann R., Bembi B., Sidransky E. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?. Mol. Genet. Metab. 2003, 79:104-109.
102. Várkonyi J., Rosenbaum H., Baumann N., MacKenzie J.J., Simon Z., Aharon-Peretz J., Walker J.M., Tayebi N., Sidransky E. Gaucher disease associated with parkinsonism: four further case reports. Am. J. Med. Genet. A 2003, 116A:348-351.
103. Lwin A., Orvisky E., Goker-Alpan O., LaMarca M.E., Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol. Genet. Metab. 2004, 81:70-73.
104. Aharon-Peretz J., Rosenbaum H., Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 2004, 351:1972-1977.
105. Sato C., Morgan A., Lang A.E., Salehi-Rad S., Kawarai T., Meng Y., Ray P.N., Farrer L.A., St George-Hyslop P., Rogaeva E. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov. Disord. 2005, 20:367-370.
106. Eblan M.J., Nguyen J., Ziegler S.G., Lwin A., Hanson M., Gallardo M., Weiser R., De Lucca M., Singleton A., Sidransky E. Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela. Mov. Disord. 2006, 21:282-283.
107. Toft M., Pielsticker L., Ross O.A., Aasly J.O., Farrer M.J. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology 2006, 66:415-417.
108. 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.
109. Tan E.K., Tong J., Fook-Chong S., Yih Y., Wong M.C., Pavanni R., Zhao Y. Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch. Neurol. 2007, 64:1056-1058.
110. Wu Y.R., Chen C.M., Chao C.Y., Ro L.S., Lyu R.K., Chang K.H., Lee-Chen G.J. Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese. J. Neurol. Neurosurg. Psychiatry 2007, 78:977-979.
111. Ziegler S.G., Eblan M.J., Gutti U., Hruska K.S., Stubblefield B.K., Goker-Alpan O., LaMarca M.E., Sidransky E. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol. Genet. Metab. 2007, 91:195-200.
112. Bras J., Paisan-Ruiz C., Guerreiro R., Ribeiro M.H., Morgadinho A., Januario C., Sidransky E., Oliveira C., Singleton A. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol. Aging 2009, 30:1515-1517.
113. 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.
114. Spitz M., Rozenberg R., Pereira Lda V., Reis Barbosa E. Association between Parkinson's disease and glucocerebrosidase mutations in Brazil. Parkinsonism Relat. Disord. 2008, 14:58-62.
115. Mata I.F., Samii A., Schneer S.H., Roberts J.W., Griffith A., Leis B.C., Schellenberg G.D., Sidransky E., Bird T.D., Leverenz J.B., Tsuang D., Zabetian C.P. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch. Neurol. 2008, 65:379-382.
116. De Marco E.V., Annesi G., Tarantino P., Rocca F.E., Provenzano G., Civitelli D., Cirò Candiano I.C., Annesi F., Carrideo S., Condino F., Nicoletti G., Messina D., Novellino F., Morelli M., Quattrone A. Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov. Disord. 2008, 23:460-463.
117. 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., Parkinson Study Group-PROGENI Investigators Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009, 72:310-316.
118. 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.
119. Mitsui J., Mizuta I., Toyoda A., Ashida R., Takahashi Y., Goto J., Fukuda Y., Date H., Iwata A., Yamamoto M., Hattori N., Murata M., Toda T., Tsuji S. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch. Neurol. 2009, 66:571-576.
120. Kalinderi K., Bostantjopoulou S., Paisan-Ruiz C., Katsarou Z., Hardy J., Fidani L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci. Lett. 2009, 452:87-89.
121. Sidransky E., Samaddar T., Tayebi N. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009, 73:1424-1425.
122. Peall K., Robertson N.P. Parkinsonism, dementia and glucocerebrosidase mutations. J. Neurol. 2013, 260:1441-1444.
123. Xu Y.H., Sun Y., Ran H., Quinn B., Witte D., Grabowski G.A. Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol. Genet. Metab. 2011, 102:436-447.
124. Bras J., Singleton A., Cookson M.R., Hardy J. Emerging pathways in genetic Parkinson's disease: potential role of ceramide metabolism in Lewy body disease. FEBS J. 2008, 275:5767-5773.
125. Goker-Alpan O., Stubblefield B.K., Giasson B.I., Sidransky E. Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders. Acta Neuropathol. 2010, 120:641-649.
126. 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.
127. Kaushik S., Cuervo A.M. Chaperone-mediated autophagy: a unique way to enter the lysosome world. Trends Cell Biol. 2012, 22:407-417.
128. Mak S.K., McCormack A.L., Manning-Bog A.B., Cuervo A.M., Di Monte D.A. Lysosomal degradation of alpha-synuclein in vivo. J. Biol. Chem. 2010, 285:13621-13629.
129. Alvarez-Erviti L., Rodriguez-Oroz M.C., Cooper J.M., Caballero C., Ferrer I., Obeso J.A., Schapira A.H. Chaperone-mediated autophagy markers in Parkinson disease brains. Arch. Neurol. 2010, 67:1464-1472.
130. Westbroek W., Gustafson A.M., Sidransky E. Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol. Med. 2011, 17:485-493.
131. 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 β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann. Neurol. 2011, 69:940-953.
132. Horowitz M., Pasmanik-Chor M., Ron I., Kolodny E.H. The enigma of the E326K mutation in acid β-glucocerebrosidase. Mol. Genet. Metab. 2011, 104:35-38.
133. Pankratz N., Beecham G.W., DeStefano A.L., Dawson T.M., Doheny K.F., Factor S.A., Hamza T.H., Hung A.Y., Hyman B.T., Ivinson A.J., Krainc D., Latourelle J.C., Clark L.N., Marder K., Martin E.R., Mayeux R., Ross O.A., Scherzer C.R., Simon D.K., Tanner C., Vance J.M., Wszolek Z.K., Zabetian C.P., Myers R.H., Payami H., Scott W.K., Foroud T. PD GWAS Consortium. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann. Neurol. 2012, 71:370-384.
134. Duran R., Mencacci N.E., Angeli A.V., Shoai M., Deas E., Houlden H., Mehta A., Hughes D., Cox T.M., Deegan P., Schapira A.H., Lees A.J., Limousin P., Jarman P.R., Bhatia K.P., Wood N.W., Hardy J., Foltynie T. The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Mov. Disord. 2013, 28:232-236.
135. Park J.K., Tayebi N., Stubblefield B.K., LaMarca M.E., MacKenzie J.J., Stone D.L., Sidransky E. The E326K mutation and Gaucher disease: mutation or polymorphism?. Clin. Genet. 2002, 61:32-34.
136. Liou B., Grabowski G.A. Is E326K glucocerebrosidase a polymorphic or pathological variant?. Mol. Genet. Metab. 2012, 105:528-529.
137. Montfort M., Chabás A., Vilageliu L., Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms. Hum. Mutat. 2004, 23:567-575.
138. Malini E., Grossi S., Deganuto M., Rosano C., Parini R., Dominisini S., Cariati R., Zampieri S., Bembi B., Filocamo M., Dardis A. Functional analysis of 11 novel GBA alleles. Eur. J. Hum. Genet. 2014, 22:511-516.
139. Wu G., Pang S., Feng X., Zhang A., Li J., Gu K., Huang J., Dong H., Yan B. Genetic analysis of lysosomal alpha-galactosidase A gene in sporadic Parkinson's disease. Neurosci. Lett. 2011, 500:31-35.
140. Winder-Rhodes S.E., Garcia-Reitböck P., Ban M., Evans J.R., Jacques T.S., Kemppinen A., Foltynie T., Williams-Gray C.H., Chinnery P.F., Hudson G., Burn D.J., Allcock L.M., Sawcer S.J., Barker R.A., Spillantini M.G. Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome. Mov. Disord. 2012, 27:312-315.
141. Gan-Or Z., Ozelius L.J., Bar-Shira A., Saunders-Pullman R., Mirelman A., Kornreich R., Gana-Weisz M., Raymond D., Rozenkrantz L., Deik A., Gurevich T., Gross S.J., Schreiber-Agus N., Giladi N., Bressman S.B., Orr-Urtreger A. The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 2013, 80:1606-1610.
142. Foo J.N., Liany H., Bei J.X., Yu X.Q., Liu J., Au W.L., Prakash K.M., Tan L.C., Tan E.K. Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease. Neurobiol. Aging 2013, 34:2890.e13-2890.e15.
143. Kang C., Riazuddin S., Mundorff J., Krasnewich D., Friedman P., Mullikin J.C., Drayna D. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N. Engl. J. Med. 2010, 362:677-685.
144. Raza M.H., Domingues C.E., Webster R., Sainz E., Paris E., Rahn R., Gutierrez J., Chow H.M., Mundorff J., Kang C.S., Riaz N., Basra M.A., Khan S., Riazuddin S., Moretti-Ferreira D., Braun A., Drayna D. Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. Eur. J. Hum. Genet. 2015, 10.1038/ejhg.2015.154.
145. Chen H., Xu J., Zhou Y., Gao Y., Wang G., Xia J., Huen M.S., Siok W.T., Jiang Y., Tan L.H., Sun Y. Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population. BMC Genet. 2015, 16:7.
146. Graff-Radford N.R., Woodruff B.K. Frontotemporal dementia. Semin. Neurol. 2007, 27:48-57.
147. Seelaar H., Rohrer J.D., Pijnenburg Y.A., Fox N.C., van Swieten J.C. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J. Neurol. Neurosurg. Psychiatry 2011, 82:476-486.
148. Sieben A., Van Langenhove T., Engelborghs S., Martin J.J., Boon P., Cras P., De Deyn P.P., Santens P., Van Broeckhoven C., Cruts M. The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol. 2012, 124:353-372.
149. Götzl J.K., Mori K., Damme M., Fellerer K., Tahirovic S., Kleinberger G., Janssens J., van der Zee J., Lang C.M., Kremmer E., Martin J.J., Engelborghs S., Kretzschmar H.A., Arzberger T., Van Broeckhoven C., Haass C., Capell A. Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis. Acta Neuropathol. 2014, 127:845-860.
150. Smith K.R., Damiano J., Franceschetti S., Carpenter S., Canafoglia L., Morbin M., Rossi G., Pareyson D., Mole S.E., Staropoli J.F., Sims K.B., Lewis J., Lin W.L., Dickson D.W., Dahl H.H., Bahlo M., Berkovic S.F. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am. J. Hum. Genet. 2012, 90:1102-1107.
151. Benussi L., Binetti G., Sina E., Gigola L., Bettecken T., Meitinger T., Ghidoni R. A novel deletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol. Aging 2008, 29:427-435.
152. Ahmed Z., Sheng H., Xu Y.F., Lin W.L., Innes A.E., Gass J., Yu X., Wuertzer C.A., Hou H., Chiba S., Yamanouchi K., Leissring M., Petrucelli L., Nishihara M., Hutton M.L., McGowan E., Dickson D.W., Lewis J. Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging. Am. J. Pathol. 2010, 177:311-324.
153. Arai T., Hasegawa M., Akiyama H., Ikeda K., Nonaka T., Mori H., Mann D., Tsuchiya K., Yoshida M., Hashizume Y., Oda T. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem. Biophys. Res. Commun. 2006, 351:602-611.
154. Neumann M., Sampathu D.M., Kwong L.K., Truax A.C., Micsenyi M.C., Chou T.T., Bruce J., Schuck T., Grossman M., Clark C.M., McCluskey L.F., Miller B.L., Masliah E., Mackenzie I.R., Feldman H., Feiden W., Kretzschmar H.A., Trojanowski J.Q., Lee V.M. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006, 314:130-133.
155. Lübke T., Lobel P., Sleat D.E. Proteomics of the lysosome. Biochim. Biophys. Acta 2009, 1793:625-635.
156. Michelakakis H., Dimitriou E., Tsagaraki S., Giouroukos S., Schulpis K., Bartsocas C.S. Lysosomal storage diseases in Greece. Genet. Couns. 1995, 6:43-47.
157. Lee J.H., Yu W.H., Kumar A., Lee S., Mohan P.S., Peterhoff C.M., Wolfe D.M., Martinez-Vicente M., Massey A.C., Sovak G., Uchiyama Y., Westaway D., Cuervo A.M., Nixon R.A. Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations. Cell 2010, 141:1146-1158.
158. Strømme P., Dobrenis K., Sillitoe R.V., Gulinello M., Ali N.F., Davidson C., Micsenyi M.C., Stephney G., Ellevog L., Klungland A., Walkley S.U. X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. Brain 2011, 134:3369-3383.
159. Bahr B.A., Bendiske J. The neuropathogenic contributions of lysosomal dysfunction. J. Neurochem. 2002, 83:481-489.
160. Cataldo A.M., Thayer C.Y., Bird E.D., Wheelock T.R., Nixon R.A. Lysosomal proteinase antigens are prominently localized within senile plaques of Alzheimer's disease: evidence for a neuronal origin. Brain Res. 1990, 513:181-192.
161. Cataldo A.M., Hamilton D.J., Nixon R.A. Lysosomal abnormalities in degenerating neurons link neuronal compromise to senile plaque development in Alzheimer disease. Brain Res. 1994, 640:68-80.
162. Cataldo A.M., Barnett J.L., Berman S.A., Li J., Quarless S., Bursztajn S., Lippa C., Nixon R.A. Gene expression and cellular content of cathepsin D in Alzheimer's disease brain: evidence for early up-regulation of the endosomal-lysosomal system. Neuron 1995, 14:671-680.
163. Cataldo A.M., Hamilton D.J., Barnett J.L., Paskevich P.A., Nixon R.A. Properties of the endosomal-lysosomal system in the human central nervous system: disturbances mark most neurons in populations at risk to degenerate in Alzheimer's disease. J. Neurosci. 1996, 16:186-199.
164. Nakamura Y., Takeda M., Suzuki H., Hattori H., Tada K., Hariguchi S., Hashimoto S., Nishimura T. Abnormal distribution of cathepsins in the brain of patients with Alzheimer's disease. Neurosci. Lett. 1991, 130:195-198.
165. Nixon R.A., Cataldo A.M., Paskevich P.A., Hamilton D.J., Wheelock T.R., Kanaley-Andrews L. The lysosomal system in neurons. Involvement at multiple stages of Alzheimer's disease pathogenesis. Ann. N. Y. Acad. Sci. 1992, 674:65-88.
166. Nixon R.A., Cataldo A.M., Mann D.M.A., Paskevich P.A., Hamilton D.J., Wheelock T.R. Abnormalities of lysosomal proteolysis in neurons in Alzheimer's disease and Down's syndrome: possible relationship to β-amyloid deposition. Alzheimer's Disease: Advances in Clinical and Basic Research 1993, 441-450. John Wiley and Sons, New York. B. Corain, K. Igbal, K.M. Nicoline, B. Winblad, H. Wisniewski, P. Zatta (Eds.).
167. Bernstein H.G., Wiederanders B. An immunohistochemical study of cathepsin E in Alzheimer-type dementia brains. Brain Res. 1994, 667:287-290.
168. Cataldo A.M., Barnett J.L., Pieroni C., Nixon R.A. Increased neuronal endocytosis and protease delivery to early endosomes in sporadic Alzheimer's disease: neuropathologic evidence for a mechanism of increased beta-amyloidogenesis. J. Neurosci. 1997, 17:6142-6151.
169. Micsenyi M.C., Walkley S.U. The lysosomal system: physiology and pathology. Lysosomal Storage Disorders - A Practical Guide 2012, Wiley-Blackwell (John Wiley & Sons, Ltd.). 1st edition. A. Metha, B. Winchester (Eds.).
170. 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.
171. 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.
172. Saftig P., Sandhoff K. Cancer: killing from the inside. Nature 2013, 502:312-313.
173. Kirkegaard T., Roth A.G., Petersen N.H., Mahalka A.K., Olsen O.D., Moilanen I., Zylicz A., Knudsen J., Sandhoff K., Arenz C., Kinnunen P.K., Nylandsted J., Jäättelä M. Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. Nature 2010, 463:549-553.
174. Petersen N.H., Olsen O.D., Groth-Pedersen L., Ellegaard A.M., Bilgin M., Redmer S., Ostenfeld M.S., Ulanet D., Dovmark T.H., Lønborg A., Vindeløv S.D., Hanahan D., Arenz C., Ejsing C.S., Kirkegaard T., Rohde M., Nylandsted J., Jäättelä M. Transformation-associated changes in sphingolipid metabolism sensitize cells to lysosomal cell death induced by inhibitors of acid sphingomyelinase. Cancer Cell 2013, 24:379-393.
175. Appelqvist H., Wäster P., Kågedal K., Öllinger K. The lysosome: from waste bag to potential therapeutic target. J. Mol. Cell Biol. 2013, 5:214-226.