Protective mechanisms by cystatin C in neurodegenerative diseases

Frontiers in Bioscience - Scholar

Volumn 3 S, Issue 2, 2011, Pages 541-554

  Gauthier, Sebastien ^a   Kaur, Gurjinder ^a   Mi, Weiqian ^a   Tizon, Belen ^a   Levy, Efrat ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Alzheimer's disease; Amyloid; Autophagy; Cathepsin; Cystatin C (CysC); Neurodegeneration; Proliferation; Review

Indexed keywords

AMYLOID; AMYLOID BETA PROTEIN; CATHEPSIN B; CATHEPSIN H; CATHEPSIN L; CATHEPSIN S; CYSTATIN C; CYSTEINE PROTEINASE; CYSTEINE PROTEINASE INHIBITOR; NEUROPROTECTIVE AGENT;

ALZHEIMER DISEASE; ARTICLE; AUTOPHAGY; BRAIN DAMAGE; BRAIN ISCHEMIA; CELL PROLIFERATION; CONCENTRATION RESPONSE; DEGENERATIVE DISEASE; DISEASE MODEL; DRUG EFFECT; DRUG EFFICACY; ENZYME ACTIVITY; ENZYME INHIBITION; EXOSOME; HUMAN; MYOCLONUS EPILEPSY; NERVE CELL CULTURE; NERVE CELL DIFFERENTIATION; NERVOUS SYSTEM DEVELOPMENT; NEUROPATHOLOGY; NEUROPROTECTION; NONHUMAN; OLIGOMERIZATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; ANIMAL; BRAIN; CELL PROTECTION; DRUG ANTAGONISM; GENE EXPRESSION REGULATION; METABOLISM; MOUSE; PATHOLOGY; PHYSIOLOGY; REVIEW;

AMYLOID; ANIMALS; AUTOPHAGY; BRAIN; CYSTATIN C; CYSTEINE PROTEINASE INHIBITORS; CYTOPROTECTION; GENE EXPRESSION REGULATION; HUMANS; MICE; NEURODEGENERATIVE DISEASES; NEUROGENESIS; NEUROPROTECTIVE AGENTS;

EID: 79955958446     PISSN: 19450516     EISSN: 19450524     Source Type: Journal    
DOI: None     Document Type: Article

References (175)

1. L. A. Bobek and M. J. Levine: Cystatins-inhibitors of cysteine proteinases. Crit Rev Oral Biol M, 3, 307-332 (1992)
2. G. M. Hochwald, A. J. Pepe and G. J. Thorbecke: Trace proteins in biological fluids. IV. Physicochemical properties and sites of formation of gamma trace and beta trace proteins. Proc Soc Exp Med, 124, 961-966 (1967)
3. A. J. Barrett: The cystatins: A diverse superfamily of cysteine peptidase inhibitors. Biomed Biochim Acta, 45(11-12), 1363-1374 (1986)
4. V. Turk and W. Bode: The cystatins: Protein inhibitors of cysteine proteinases. FEBS Lett, 285(2), 213-219 (1991)
5. B. Turk, V. Turk and D. Turk: Structural and functional aspects of papain-like cysteine proteinases and their protein inhibitors. Biol Chem, 378(3-4), 141-150 (1997)
6. V. Turk, V. Stoka and D. Turk: Cystatins: Biochemical and structural properties, and medical relevance. Front Biosci, 13, 5406-5420 (2008)
7. G. Filler, A. Bokenkamp, W. Hofmann, T. Le Bricon, C. Martinez-Bru and A. Grubb: Cystatin C as a marker of GFR-history, indications, and future research. Clin Biochem, 38(1), 1-8 (2005)
8. U. H. Lerner and A. Grubb: Fuman cystatin C, a cysteine proteinase inhibitor, inhibits bone resorption in vitro stimulated by parathyroid hormone and parathyroid hormone-related peptide of malignancy. J Bone Miner Res, 7, 433-440 (1992)
9. C. G. Huh, K. Hakansson, C. M. Nathanson, U. P. Thorgeirsson, N. Jonsson, A. Grubb, M. Abrahamson and S. Karlsson: Decreased metastatic spread in mice homozygous for a null allele of the cystatin C protease inhibitor gene. Mol Pathol, 52(6), 332-340 (1999)
10. A. H. Warfel, D. Zucker-Franklin, B. Frangione and J. Ghiso: Constitutive secretion of cystatin C (gamma-trace) by monocytes and macrophages and its downregulation after stimulation. J Exp Med, 166, 1912-1917 (1987)
11. Q. Sun: Growth stimulation of 3T3 fibroblasts by cystatin. Exp Cell Res, 180, 150-160 (1989)
12. C. Tavera, J. Leung-Tack, D. Prevot, M. C. Gensac, J. Martinez, P. Fulcrand and A. Colle: Cystatin C secretion by rat glomerular mesangial cells: Autocrine loop for in vitro growth-promoting activity. Biochem Biophys Res Commun, 182, 1082-1088 (1992)
13. T. Akopyan: Protein inhibitors of proteinases from brain. Neurochem Res, 16, 513-517 (1991)
14. M. C. Hoffmann, C. Nitsch, A. L. Scotti, E. Reinhard and D. Monard: The prolonged presence of glia-Derived nexin, an endogenous protease inhibitor, in the hippocampus after ischemia-induced delayed neuronal death. Neuroscience, 49, 397-408 (1992)
15. K. S. Lee, S. Frank, P. Vanderklish, A. Arai and G. Lynch: Inhibition of proteolysis protects hippocampal neurons from ischemia. Proc Natl Acad Sci USA, 88, 7233-7237 (1991)
16. A. Nagai, M. Terashima, A. M. Sheikh, Y. Notsu, K. Shimode, S. Yamaguchi, S. Kobayashi, S. U. Kim and J. Masuda: Involvement of cystatin C in pathophysiology of CNS diseases. Front Biosci, 13, 3470-3479 (2008)
17. E. Zerovnik: The emerging role of cystatins in Alzheimer's disease. Bioessays, 31(6), 597-599 (2009)
18. W. Maetzler, B. Schmid, M. Synofzik, C. Schulte, K. Riester, H. Huber, K. Brockmann, T. Gasser, D. Berg and A. Melms: The CST3 BB Genotype and Low Cystatin C Cerebrospinal Fluid Levels are Associated with Dementia in Lewy Body Disease. J Alzheimers Dis, 19(3), 937-942 (2009)
19. Y. Yang, S. Liu, Z. Qin, Y. Cui, Y. Qin and S. Bai: Alteration of cystatin C levels in cerebrospinal fluid of patients with Guillain-Barre Syndrome by a proteomical approach. Mol Biol Rep, 36(4), 677-682 (2009)
20. J. Mares, P. Kanovsky, R. Herzig, D. Stejskal, J. Vavrouskova, P. Hlustik, H. Vranova, S. Burval, J. Zapletalova, V. Pidrman, R. Obereigneru, A. Suchy, J. Vesely, J. Podivinsky and K. Urbanek: New laboratory markers in diagnosis of alzheimer dementia. Neurol Res, 31(10), 1056-1059 (2009)
21. F. Mori, K. Tanji, Y. Miki and K. Wakabayashi: Decreased cystatin C immunoreactivity in spinal motor neurons and astrocytes in amyotrophic lateral sclerosis. J Neuropath Exp Neur, 68(11), 1200-1206 (2009)
22. S. Tsuji-Akimoto, I. Yabe, M. Niino, S. Kikuchi and H. Sasaki: Cystatin C in cerebrospinal fluid as a biomarker of ALS. Neurosci Lett, 452(1), 52-55 (2009)
23. G. M. Pasinetti, L. H. Ungar, D. J. Lange, S. Yemul, H. Deng, X. Yuan, R. H. Brown, M. E. Cudkowicz, K. Newhall, E. Peskind, S. Marcus and L. Ho: Identification of potential CSF biomarkers in ALS. Neurology, 66(8), 1218-1222 (2006)
24. A. Deng, M. C. Irizarry, R. M. Nitsch, J. H. Growdon and G. W. Rebeck: Elevation of cystatin C in susceptible neurons in alzheimer's disease. Am J Pathol, 159(3), 1061-1068 (2001)
25. E. Levy, M. Sastre, A. Kumar, G. Gallo, P. Piccardo, B. Ghetti and F. Tagliavini: Codeposition of cystatin C with amyloid-Beta protein in the brain of Alzheimer's disease patients. J Neuropath Exp Neurol, 60, 94-104 (2001)
26. T. Miyake, Y. Gahara, M. Nakayama, H. Yamada, K. Uwabe and T. Kitamura: Up-regulation of cystatin C by microglia in the rat facial nucleus following axotomy. Brain Res Mol Brain Res, 37(1-2), 273-282 (1996)
27. H. T. Yang, S. Wilkening and M. J. Iadarola: Spinal cord genes enriched in rat dorsal horn and induced by noxious stimulation identified by subtraction cloning and differential hybridization. Neuroscience, 103(2), 493-502 (2001)
28. G. X. Ying, C. Huang, Z. H. Jiang, X. Liu, N. H. Jing and C. F. Zhou: Up-regulation of cystatin C expression in the murine hippocampus following perforant path transections. Neuroscience, 112(2), 289-298 (2002)
29. K. Katakai, M. Shinoda, K. Kabeya, M. Watanabe, Y. Ohe, M. Mori and K. Ishikawa: Changes in distribution of cystatin C, apolipoprotein E and ferritin in rat hypothalamus after hypophysectomy. J Neuroendocrinol, 9(4), 247-253 (1997)
30. D. E. Palm, N. W. Knuckey, M. J. Primiano, A. G. Spangenberger and C. E. Johanson: Cystatin C, a protease inhibitor, in degenerating rat hippocampal neurons following transient forebrain ischemia. Brain Res, 691, 1-8 (1995)
31. H. Ishimaru, K. Ishikawa, Y. Ohe, A. Takahashi and Y. Maruyama: Cystatin C and apolipoprotein E immunoreactivities in CA1 neurons in ischemic gerbil hippocampus. Brain Res, 709(2), 155-162 (1996)
32. T. J. Pirttila and A. Pitkanen: Cystatin C expression is increased in the hippocampus following photothrombotic stroke in rat. Neurosci Lett, 395(2), 108-113 (2006)
33. K. Lukasiuk, T. J. Pirttila and A. Pitkanen: Upregulation of cystatin C expression in the rat hippocampus during epileptogenesis in the amygdala stimulation model of temporal lobe epilepsy. Epilepsia, 43 Suppl 5, 137-145 (2002)
34. H. Hendriksen, N. A. Datson, W. E. Ghijsen, E. A. Van Vliet, F. H. da Silva, J. A. Gorter and E. Vreugdenhil: Altered hippocampal gene expression prior to the onset of spontaneous seizures in the rat post-status epilepticus model. Eur J Neurosci, 14(9), 1475-1484 (2001)
35. E. Aronica, E. A. Van Vliet, E. Hendriksen, D. Troost, F. H. Lopes da Silva and J. A. Gorter: Cystatin C, a cysteine protease inhibitor, is persistently up-regulated in neurons and glia in a rat model for mesial temporal lobe epilepsy. Eur J Neurosci, 14(9), 1485-1491 (2001)
36. L. Xu, J. Sheng, Z. Tang, X. Wu, Y. Yu, H. Guo, Y. Shen, C. Zhou, L. Paraoan and J. Zhou: Cystatin C prevents degeneration of rat nigral dopaminergic neurons: In vitro and in vivo studies. Neurobiol Dis, 18(1), 152-165 (2005)
37. C. Nishio, K. Yoshida, K. Nishiyama, H. Hatanaka and M. Yamada: Involvement of cystatin C in oxidative stressinduced apoptosis of cultured rat CNS neurons. Brain Res, 873(2), 252-262 (2000)
38. K. Nishiyama, A. Konishi, C. Nishio, K. Araki-Yoshida, H. Hatanaka, M. Kojima, Y. Ohmiya, M. Yamada and H. Koshimizu: Expression of cystatin C prevents oxidative stress-induced death in PC12 cells. Brain Res Bull, 67(1-2), 94-99 (2005)
39. Z. Wang, D. Wu and H. V. Vinters: Fypoxia and reoxygenation of brain microvascular smooth muscle cells in vitro: Cellular responses and expression of cerebral amyloid angiopathy-Associated proteins. Apmis, 110(5), 423-434 (2002)
40. H. G. Bernstein, H. Kirschke, B. Wiederanders, K. H. Pollak, A. Zipress and A. Rinne: The possible place of cathepsins and cystatins in the puzzle of Alzheimer disease: A review. Mol Chem Neuropathol, 27, 225-247 (1996)
41. B. Turk, D. Turk and V. Turk: Lysosomal cysteine proteases: More than scavengers. Biochim Biophys Acta, 1477(1-2), 98-111 (2000)
42. A. Rudensky, P. Preston-Hurlburt, S. C. Hong, A. Barlow and C. A. Janeway, Jr.: Sequence analysis of peptides bound to MHC class II molecules. Nature, 353(6345), 622-627 (1991)
43. B. J. Rider, E. Fraga, Q. Yu and B. Singh: Immune responses to self peptides naturally presented by murine class II major histocompatibility complex molecules. Mol Immunol, 33(7-8), 625-633 (1996)
44. M. Abrahamson, D. J. Buttle, R. W. Mason, H. Hansson, A. O. Grubb, H. Lilja and K. Ohlsson: Regulation of cystatin C activity by serine proteinases. Biomedica Biochimica Acta, 50, 587-593 (1991)
45. B. Lenarcic, M. Krasovec, A. Ritonja, I. Olafsson and V. Turk: Inactivation of human cystatin C and kininogen by human cathepsin D. FEBS Letters, 280, 211-215 (1991)
46. Y. Nakamura, M. Takeda, H. Suzuki, H. Hattori, K. Tada, S. Hariguchi, S. Hashimoto and T. Nishimura: Abnormal distribution of cathepsins in the brain of patients with Alzheimer's disease. Neurosci Lett, 130, 195-198 (1991)
47. A. Trabandt, R. E. Gay, H. G. Fassbender and S. Gay: Cathepsin B in synovial cells at the site of joint destruction in rheumatoid arthritis. Arthritis Rheum, 34(11), 1444-1451 (1991)
48. A. Kabanda, E. Goffin, A. Bernard, R. Lauwerys and C. Van Ypersele de Strihou: Factors influencing serum levels and peritoneal clearances of low molecular weight proteins in continuous ambulatory peritoneal dialysis. Kidney Int, 48(6), 1946-1952 (1995)
49. C. T. Bever, Jr. and D. W. Garver: Increased cathepsin B activity in multiple sclerosis brain. J Neurol Sci, 131(1), 71-73 (1995)
50. A. Nagai, M. Terashima, T. Harada, K. Shimode, H. Takeuchi, Y. Murakawa, M. Nagasaki, A. Nakano and S. Kobayashi: Cathepsin B and H activities and cystatin C concentrations in cerebrospinal fluid from patients with leptomeningeal metastasis. Clin Chim Acta, 329(1-2), 53-60 (2003)
51. I. Sohar, A. Laszlo, K. Gaal and F. Mechler: Cysteine and metalloproteinase activities in serum of Duchenne muscular dystrophic genotypes. Biol Chem Hoppe Seyler, 369 Suppl, 277-279 (1988)
52. T. T. Lah, J. Babnik, E. Schiffmann, V. Turk and U. Skaleric: Cysteine proteinases and inhibitors in inflammation: Their role in periodontal disease. J Periodontol 64, 485-491 (1993)
53. D. J. Buttle, M. Abrahamson, D. Burnett, J. S. Mort, A. J. Barrett, P. M. Dando and S. L. Hill: Fuman sputum cathepsin B degrades proteoglycan, is inhibited by alpha 2-macroglobulin and is modulated by neutrophil elastase cleavage of cathepsin B precursor and cystatin C. Biochem J, 276, 325-331 (1991)
54. I. Assfalg-Machleidt, M. Jochum, D. Nast-Kolb, M. Siebeck, A. Billing, T. Joka, G. Rothe, G. Valet, R. Zauner, H. P. Scheuber and et al.: Cathepsin B-indicator for the release of lysosomal cysteine proteinases in severe trauma and inflammation. Biol Chem Hoppe Seyler, 371 Suppl, 211-222 (1990)
55. C. C. Calkins and B. F. Sloane: Mammalian cysteine protease inhibitors: Biochemical properties and possible roles in tumor progression. Biol Chem Hoppe Seyler, 376(2), 71-80 (1995)
56. C. Thomssen, M. Schmitt, L. Goretzki, P. Oppelt, L. Pache, P. Dettmar, F. Janicke and H. Graeff: Prognostic value of the cysteine proteases cathepsins B and cathepsin L in human breast cancer. Clin Cancer Res, 1(7), 741-746 (1995)
57. M. J. Duffy: Proteases as prognostic markers in cancer. Clin Cancer Res, 2(4), 613-618 (1996)
58. J. Kos, B. Werle, T. Lah and N. Brunner: Cysteine proteinases and their inhibitors in extracellular fluids: Markers for diagnosis and prognosis in cancer. Int J Biol Markers, 15(1), 84-89 (2000)
59. T. Nitatori, N. Sato, S. Waguri, Y. Karasawa, H. Araki, K. Shibanai, E. Kominami and Y. Uchiyama: Delayed neuronal death in the CA1 pyramidal cell layer of the gerbil hippocampus following transient ischemia is apoptosis. J Neurosci, 15(2), 1001-1011 (1995)
60. T. Yamashima, Y. Kohda, K. Tsuchiya, T. Ueno, J. Yamashita, T. Yoshioka and E. Kominami: Inhibition of ischaemic hippocampal neuronal death in primates with cathepsin B inhibitor CA-074: A novel strategy for neuroprotection based on 'calpain-Cathepsin hypothesis'. Eur J Neurosci, 10(5), 1723-1733 (1998)
61. K. Tsuchiya, Y. Kohda, M. Yoshida, L. Zhao, T. Ueno, J. Yamashita, T. Yoshioka, E. Kominami and T. Yamashima: Postictal blockade of ischemic hippocampal neuronal death in primates using selective cathepsin inhibitors. Exp Neurol, 155(2), 187-194 (1999)
62. L. Wei, Y. Berman, E. M. Castano, M. Cadene, R. C. Beavis, L. Devi and E. Levy: Instability of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. J Biol Chem, 273, 11806-11814 (1998)
63. L. Paraoan, M. R. White, D. G. Spiller, I. Grierson and B. E. Maden: Precursor cystatin C in cultured retinal pigment epithelium cells: Evidence for processing through the secretory pathway. Mol Membr Biol, 18(3), 229-236 (2001)
64. P. Pierre and I. Mellman: Developmental regulation of invariant chain proteolysis controls MHC class II trafficking in mouse dendritic cells. Cell, 93(7), 1135-1145 (1998)
65. U. Ekstrom, H. Wallin, J. Lorenzo, B. Holmqvist, M. Abrahamson and F. X. Aviles: Internalization of cystatin C in human cell lines. Febs J, 275(18), 4571-4582 (2008)
66. R. Kolodziejczyk, K. Michalska, A. Hernandez-Santoyo, M. Wahlbom, A. Grubb and M. Jaskolski: Crystal structure of human cystatin C stabilized against amyloid formation. Febs J, 277(7), 1726-1737 (2010)
67. E. A. Runquist and R. J. Havel: Acid hydrolases in early and late endosome fractions from rat liver. J Biol Chem, 266, 22557-22563 (1991)
68. G. Lammers and J. C. Jamieson: The role of a cathepsin D-like activity in the release of Gal beta 1-4GlcNAc alpha 2-6-sialyltransferase from rat liver Golgi membranes during the acute-phase response. Biochem J, 256, 623-631 (1988)
69. T. J. Krieger and V. Y. Hook: Purification and characterization of a cathepsin D protease from bovine chromaffin granules. Biochemistry, 31, 4223-4231 (1992)
70. H. Matsuba, T. Watanabe, M. Watanabe, Y. Ishii, S. Waguri, E. Kominami and Y. Uchiyama: Immunocytochemical localization of prorenin, renin, and cathepsins B, H, and L in juxtaglomerular cells of rat kidney. J Histochem Cytochem, 37(11), 1689-1697 (1989)
71. N. Marks, M. J. Berg, L. M. Chi, J. Choi, R. Durrie, J. Swistok, R. C. Makofske, W. Danho and V. S. Sapirstein: Fydrolysis of amyloid precursor proteinderived peptides by cysteine proteinases and extracts of rat brain clathrin-Coated vesicles. Peptides, 15, 175-182 (1994)
72. K. P. Williams and J. A. Smith: Isolation of a membrane-Associated cathepsin D-like enzyme from the model antigen presenting cell, A20, and its ability to generate antigenic fragments from a protein antigen in a cell-Free system. Arch Biochem Biophys, 305, 298-306 (1993)
73. M. R. Buck, D. G. Karustis, N. A. Day, K. V. Honn and B. F. Sloane: Degradation of extracellular-matrix proteins by human cathepsin B from normal and tumour tissues. Biochem J, 282 ( Pt 1), 273-278 (1992)
74. P. J. Kingham and J. M. Pocock: Microglial secreted cathepsin B induces neuronal apoptosis. J Neurochem, 76(5), 1475-1484 (2001)
75. B. Boland and V. Campbell: Amyloid-Beta-mediated activation of the apoptotic cascade in cultured cortical neurones: A role for cathepsin-L. Neurobiol Aging, 25(1), 83-91 (2004)
76. N. Bidere, H. K. Lorenzo, S. Carmona, M. Laforge, F. Harper, C. Dumont and A. Senik: Cathepsin D triggers Bax activation, resulting in selective apoptosis-inducing factor (AIF) relocation in T lymphocytes entering the early commitment phase to apoptosis. J Biol Chem, 278(33), 31401-31411 (2003)
77. K. Kagedal, M. Zhao, I. Svensson and U. T. Brunk: Sphingosine-induced apoptosis is dependent on lysosomal proteases. Biochem J, 359(Pt 2), 335-343 (2001)
78. K. Roberg and K. Ollinger: Oxidative stress causes relocation of the lysosomal enzyme cathepsin D with ensuing apoptosis in neonatal rat cardiomyocytes. Am J Pathol, 152(5), 1151-1156 (1998)
79. M. Jochum, C. Gippner-Steppert, W. Machleidt and H. Fritz: The role of phagocyte proteinases and proteinase inhibitors in multiple organ failure. Am J Respir Crit Care Med, 150(6 Pt 2), S123-30 (1994)
80. T. Nomura and N. Katunuma: Involvement of cathepsins in the invasion, metastasis and proliferation of cancer cells. J Med Invest, 52(1-2), 1-9 (2005)
81. A. M. Cataldo and R. A. Nixon: Enzymatically active lysosomal proteases are associated with amyloid deposits in Alzheimer brain. Proc Natl Acad Sci USA, 87, 3861-3865 (1990)
82. A. M. Cataldo, C. Y. Thayer, E. D. Bird, T. R. Wheelock and R. A. Nixon: Lysosomal proteinase antigens are prominently localized within senile plaques of Alzheimer's disease: Evidence for a neuronal origin. Brain Res, 513, 181-192 (1990)
83. A. M. Cataldo, D. J. Hamilton and R. A. Nixon: Lysosomal abnormalities in degenerating neurons link neuronal compromise to senile plaque development in Alzheimer disease. Brain Res, 640, 68-80 (1994)
84. B. Sun, Y. Zhou, B. Halabisky, I. Lo, S. H. Cho, S. Mueller-Steiner, N. Devidze, X. Wang, A. Grubb and L. Gan: Cystatin C-Cathepsin B axis regulates amyloid beta levels and associated neuronal deficits in an animal model of Alzheimer's disease. Neuron, 60(2)247-257 2008
85. T. Olsson, J. Nygren, K. Hakansson, C. Lundblad, A. Grubb, M. L. Smith and T. Wieloch: Gene deletion of cystatin C aggravates brain damage following focal ischemia but mitigates the neuronal injury after global ischemia in the mouse. Neuroscience, 128(1), 65-71 (2004)
86. G. Kaur, P. Mohan, M. Pawlik, S. Derosa, J. Fajiculay, S. Che, A. Grubbs, S. Ginsberg, R. Nixon and E. Levy: Cystatin C rescues degenerating neurons in a cystatin Bknockout mouse model of progressive myoclonus epilepsy. Am J Pathol, in press (2010)
87. M. K. Houseweart, L. A. Pennacchio, A. Vilaythong, C. Peters, J. L. Noebels and R. M. Myers: Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1). J Neurobiol, 56(4), 315-327 (2003)
88. M. D. Lalioti, H. S. Scott, C. Buresi, C. Rossier, A. Bottani, M. A. Morris, A. Malafosse and S. E. Antonarakis: Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature, 386(6627), 847-851 (1997)
89. L. A. Pennacchio, A. E. Lehesjoki, N. E. Stone, V. L. Willour, K. Virtaneva, J. Miao, E. D'Amato, L. Ramirez, M. Faham, M. Koskiniemi, J. A. Warrington, R. Norio, A. de la Chapelle, D. R. Cox and R. M. Myers: Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science, 271(5256), 1731-1734 (1996)
90. R. G. Lafreniere, D. L. Rochefort, N. Chretien, J. M. Rommens, J. I. Cochius, R. Kalviainen, U. Nousiainen, G. Patry, K. Farrell, B. Soderfeldt, A. Federico, B. R. Hale, O. H. Cossio, T. Sorensen, M. A. Pouliot, T. Kmiec, P. Uldall, J. Janszky, M. R. Pranzatelli, F. Andermann, E. Andermann and G. A. Rouleau: Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet, 15(3), 298-302 (1997)
91. M. Koskiniemi, M. Donner, H. Majuri, M. Haltia and R. Norio: Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurologica Scandinavica, 50(3), 307-332 (1974)
92. R. Norio and M. Koskiniemi: Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet, 15(5), 382-398 (1979)
93. R. Eldridge, M. Iivanainen, R. Stern, T. Koerber and B. J. Wilder:Baltic myoclonus epilepsy: Fereditary disorder of childhood made worse by phenytoin. Lancet, 2(8354), 838-842 (1983)
94. L. A. Pennacchio, D. M. Bouley, K. M. Higgins, M. P. Scott, J. L. Noebels and R. M. Myers: Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin Bdeficient mice. Nat Genet, 20(3), 251-258 (1998)
95. P. Shannon, L. A. Pennacchio, M. K. Houseweart, B. A. Minassian and R. M. Myers: Neuropathological changes in a mouse model of progressive myoclonus epilepsy: Cystatin B deficiency and Unverricht-Lundborg disease. J Neuropathol Exp Neurol, 61(12), 1085-1091 (2002)
96. A. E. Lehesjoki: Molecular background of progressive myoclonus epilepsy. Embo J, 22(14), 3473-3478 (2003)
97. R. Rinne, P. Saukko, M. Jarvinen and A. E. Lehesjoki: Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. Ann Med, 34(5), 380-385 (2002)
98. K. Lieuallen, L. A. Pennacchio, M. Park, R. M. Myers and G. G. Lennon: Cystatin B-Deficient mice have increased expression of apoptosis and glial activation genes. Hum Mol Genet, 10(18), 1867-1871 (2001)
99. J. M. Parent, T. W. Yu, R. T. Leibowitz, D. H. Geschwind, R. S. Sloviter and D. H. Lowenstein: Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus. J Neurosci, 17(10), 3727-3738 (1997)
100. J. Nairismagi, O. H. Grohn, M. I. Kettunen, J. Nissinen, R. A. Kauppinen and A. Pitkanen: Progression of brain damage after status epilepticus and its association with epileptogenesis: A quantitative MRI study in a rat model of temporal lobe epilepsy. Epilepsia, 45(9), 1024-1034 (2004)
101. P. Taupin, J. Ray, W. H. Fischer, S. T. Suhr, K. Hakansson, A. Grubb and F. H. Gage: FGF-2-Responsive neural stem cell proliferation requires CCg, a novel Autocrine/Paracrine cofactor. Neuron, 28(2), 385-397 (2000)
102. T. J. Pirttila, K. Lukasiuk, K. Hakansson, A. Grubb, M. Abrahamson and A. Pitkanen: Cystatin C modulates neurodegeneration and neurogenesis following status epilepticus in mouse. Neurobiol Dis, 20(2), 241-253 (2005)
103. T. Kato, T. Heike, K. Okawa, M. Haruyama, K. Shiraishi, M. Yoshimoto, M. Nagato, M. Shibata, T. Kumada, Y. Yamanaka, H. Hattori and T. Nakahata: A neurosphere-Derived factor, cystatin C, supports differentiation of ES cells into neural stem cells. Proc Natl Acad Sci USA, 103(15), 6019-6024 (2006)
104. T. Kumada, A. Hasegawa, Y. Iwasaki, H. Baba and K. Ikenaka: Isolation of cystatin C via functional cloning of astrocyte differentiation factors. Dev Neurosci, 26(1), 68-76 (2004)
105. A. Hasegawa, M. Naruse, S. Hitoshi, Y. Iwasaki, H. Takebayashi and K. Ikenaka: Regulation of glial development by cystatin C. J Neurochem, 100(1), 12-22 (2007)
106. B. Tizon, S. Sahoo, H. Yu, S. Gauthier, A. R. Kumar, P. Mohan, M. Figliola, M. Pawlik, A. Grubb, Y. Uchiyama, S. Bandyopadhyay, A. M. Cuervo, R. A. Nixon and E. Levy: Induction of autophagy by cystatin C: A mechanism that protects murine primary cortical neurons and neuronal cell lines. PLoS One, 5(3), e9819 (2010)
107. H. Glaumann, J. L. Ericsson and L. Marzella: Mechanisms of intralysosomal degradation with special reference to autophagocytosis and heterophagocytosis of cell organelles. Int Rev Cytol, 73, 149-182 (1981)
108. S. A. Tooze and G. Schiavo: Liaisons dangereuses: Autophagy, neuronal survival and neurodegeneration. Curr Opin Neurobiol, 18(5), 504-515 (2008)
109. C. He and D. J. Klionsky: Regulation mechanisms and signaling pathways of autophagy. Annu Rev Genet, 43, 67-93 (2009)
110. K. E. Larsen and D. Sulzer: Autophagy in neurons: A review. Histol Histopathol, 17(3), 897-908 (2002)
111. A. M. Tolkovsky, L. Xue, G. C. Fletcher and V. Borutaite: Mitochondrial disappearance from cells: A clue to the role of autophagy in programmed cell death and disease? Biochimie, 84(2-3), 233-240 (2002)
112. W. Bursch: The autophagosomal-lysosomal compartment in programmed cell death. Cell Death Differ, 8(6), 569-581 (2001)
113. E. H. Baehrecke: Autophagic programmed cell death in Drosophila. Cell Death Differ, 10(9), 940-945 (2003)
114. T. Borsello, K. Croquelois, J. P. Hornung and P. G. Clarke: N-methyl-D-Aspartate-triggered neuronal death in organotypic hippocampal cultures is endocytic, autophagic and mediated by the c-Jun N-terminal kinase pathway. Eur J Neurosci, 18(3), 473-485 (2003)
115. C. A. Guimaraes, M. Benchimol, G. P. Amarante-Mendes and R. Linden: Alternative programs of cell death in developing retinal tissue. J Biol Chem, 278(43), 41938-41946 (2003)
116. S. J. Cherra and C. T. Chu: Autophagy in neuroprotection and neurodegeneration: A question of balance. Future Neurol, 3(3), 309-323 (2008)
117. A. Arnason: Apoplexie und ihre Vererbung. Acta Psychiatr Neurol Scand (Suppl), VII, 1-180 (1935)
118. G. Gudmundsson, J. Hallgrimsson, T. A. Jonasson and O. Bjarnason: Fereditary cerebral haemorrhage with amyloidosis. Brain, 95, 387-404 (1972)
119. I. Olafsson, L. Thorsteinsson and O. Jensson: The molecular pathology of hereditary cystatin C amyloid angiopathy causing brain hemorrhage. Brain Pathol, 6, 121-126 (1996)
120. D. H. Cohen, H. Feiner, O. Jensson and B. Frangione: Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroenteropancreatic neuroendocrine protein, gamma trace. J Exp Med, 158, 623-628 (1983)
121. J. Ghiso, B. Pons-Estel and B. Frangione: Fereditary cerebral amyloid angiopathy: The amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases. Biochem Biophys Res Commun, 136, 548-554 (1986)
122. A. Palsdottir, M. Abrahamson, L. Thorsteinsson, A. Arnason, I. Olafsson, A. O. Grubb and O. Jensson: Mutation in cystatin C gene causes hereditary brain haemorrhage. Lancet, 2, 603-604 (1988)
123. E. Levy, C. Lopez-Otin, J. Ghiso, D. Geltner and B. Frangione: Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases. J Exp Med, 169, 1771-1778 (1989)
124. M. Abrahamson, I. Olafsson, A. Palsdottir, M. Ulvsback, A. Lundwall, O. Jensson and A. O. Grubb: Structure and expression of the human cystatin C gene. Biochem J, 268, 287-294 (1990)
125. C. Graffagnino, M. H. Herbstreith, D. E. Schmechel, E. Levy, A. D. Roses and M. J. Alberts: Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage. Stroke, 26, 2190-2193 (1995)
126. E. Levy, M. Jaskolski and A. Grubb: The role of cystatin C in cerebral amyloid angiopathy and stroke: Cell biology and animal models. Brain Pathol, 16(1), 60-70 (2006)
127. M. Sastre, M. Calero, M. Pawlik, P. M. Mathews, A. Kumar, V. Danilov, S. D. Schmidt, R. A. Nixon, B. Frangione and E. Levy: Binding of cystatin C to Alzheimer?s amyloid beta inhibits amyloid fibril formation. Neurobiol Aging, 25, 1033-1043 (2004)
128. W. Mi, M. Pawlik, M. Sastre, S. S. Jung, D. S. Radvinsky, A. M. Klein, J. Sommer, S. D. Schmidt, R. A. Nixon, P. M. Mathews and E. Levy: Cystatin C inhibits amyloid-Beta deposition in Alzheimer's disease mouse models. Nat Genet, 39(12), 1440-1442 (2007)
129. S. A. Kaeser, M. C. Herzig, J. Coomaraswamy, E. Kilger, M. L. Selenica, D. T. Winkler, M. Staufenbiel, E. Levy, A. Grubb and M. Jucker: Cystatin C modulates cerebral beta-Amyloidosis. Nat Genet, 39(12), 1437-1439 (2007)
130. J. Hardy and D. Allsop: Amyloid deposition as the central event in the aetiology of Alzheimer's disease. Trends Pharmacol Sci, 12(10), 383-388 (1991)
131. J. Hardy and D. J. Selkoe: The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics. Science, 297(5580), 353-356 (2002)
132. D. J. Selkoe: The molecular pathology of Alzheimer's disease. Neuron, 6, 487-498 (1991)
133. W. B. Stine, Jr., K. N. Dahlgren, G. A. Krafft and M. J. LaDu: In vitro characterization of conditions for amyloid-Beta peptide oligomerization and fibrillogenesis. J Biol Chem, 278(13), 11612-11622 (2003)
134. D. A. Butterfield and D. Boyd-Kimball: Amyloid beta-peptide(1-42) contributes to the oxidative stress and neurodegeneration found in Alzheimer disease brain. Brain Pathol, 14(4), 426-432 (2004)
135. W. L. Klein, G. A. Krafft and C. E. Finch: Targeting small amyloid-Beta oligomers: The solution to an Alzheimer's disease conundrum? Trends Neurosci, 24(4), 219-224 (2001)
136. D. M. Walsh and D. J. Selkoe: Deciphering the molecular basis of memory failure in Alzheimer's disease. Neuron, 44(1), 181-193 (2004)
137. J. Haan, M. L. C. Maat-Schieman, S. G. Van Duinen, O. Jensson, L. Thorsteinsson and R. A. C. Roos: Colocalization of beta/A4 and cystatin C in cortical blood vessels in Dutch, but not in Icelandic hereditary cerebral hemorrhage with amyloidosis. Acta Neurol Scand, 89, 367-371 (1994)
138. Y. Itoh, M. Yamada, M. Hayakawa, E. Otomo and T. Miyatake: Cerebral amyloid angiopathy: A significant cause of cerebellar as well as lobar cerebral hemorrhage in the elderly. J Neurol Sci, 116, 135-141 (1993)
139. K. Maruyama, S. Ikeda, T. Ishihara, D. Allsop and N. Yanagisawa: Immunohistochemical characterization of cerebrovascular amyloid in 46 autopsied cases using antibodies to beta protein and cystatin C. Stroke, 21, 397-403 (1990)
140. H. V. Vinters, G. S. Nishimura, D. L. Secor and W. M. Pardridge: Immunoreactive A4 and gamma-trace peptide colocalization in amyloidotic arteriolar lesions in brains of patients with Alzheimer's disease. Am J Pathol, 137, 233-240 (1990)
141. L. Wei, L. C. Walker and E. Levy: Cystatin C: Icelandic-like mutation in an animal model of cerebrovascular beta amyloidosis. Stroke, 27, 2080-2085 (1996)
142. T. Steinhoff, E. Moritz, M. A. Wollmer, M. H. Mohajeri, S. Kins and R. M. Nitsch: Increased cystatin C in astrocytes of transgenic mice expressing the K670NM671L mutation of the amyloid precursor protein and deposition in brain amyloid plaques. Neurobiol Dis, 8(4), 647-654 (2001)
143. E. Saitoh, L. M. Sabatini, R. L. Eddy, T. B. Shows, E. A. Azen, S. Isemura and K. Sanada: The human cystatin C gene (CST3) is a member of the cystatin gene family which is localized on chromosome Biochem Biophys Res Commun, 162, 1324-1331 (1989)
144. M. Abrahamson, M. Q. Islam, J. Szpirer, C. Szpirer and G. Levan: The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome Hum Genet, 82, 223-226 (1989)
145. F. C. Crawford, M. J. Freeman, J. A. Schinka, L. I. Abdullah, M. Gold, R. Hartman, K. Krivian, M. D. Morris, D. Richards, R. Duara, R. Anand and M. J. Mullan: A polymorphism in the cystatin C gene is a novel risk factor for late-onset Alzheimer's disease. Neurology, 55(6), 763-768 (2000)
146. U. Finckh, H. Von Der Kammer, J. Velden, T. Michel, B. Andresen, A. Deng, J. Zhang, T. Muller-Thomsen, K. Zuchowski, G. Menzer, U. Mann, A. Papassotiropoulos, R. Heun, J. Zurdel, F. Holst, L. Benussi, G. Stoppe, J. Reiss, A. R. Miserez, H. B. Staehelin, G. W. Rebeck, B. T. Hyman, G. Binetti, C. Hock, J. H. Growdon and R. M. Nitsch: Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease. Arch Neurol, 57(11), 1579-1583 (2000)
147. H. Maruyama, Y. Izumi, M. Oda, T. Torii, H. Morino, H. Toji, K. Sasaki, H. Terasawa, S. Nakamura and H. Kawakami: Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease. Neurology, 57(2), 337-339 (2001)
148. G. Roks, M. Cruts, A. J. Slooter, B. Dermaut, A. Hofman, C. Van Broeckhoven and C. M. Van Duijn: The cystatin C polymorphism is not associated with early onset Alzheimer's disease. Neurology, 57(2), 366-367 (2001)
149. R. C. Dodel, Y. Du, C. Depboylu, A. Kurz, B. Eastwood, M. Farlow, W. H. Oertel, U. Muller and M. Riemenschneider: A polymorphism in the cystatin C promoter region is not associated with an increased risk of AD. Neurology, 58(4), 664 (2002)
150. K. Beyer, J. I. Lao, M. Gomez, N. Riutort, P. Latorre, J. L. Mate and A. Ariza: Alzheimer's disease and the cystatin C gene polymorphism: An association study. Neurosci Lett, 315(1-2), 17-20 (2001)
151. J. M. Olson, K. A. Goddard and D. M. Dudek: A second locus for very-late-onset Alzheimer disease: A genome scan reveals linkage to 20p and epistasis between 20p and the amyloid precursor protein region. Am J Hum Genet, 71(1), 154-161 (2002)
152. K. A. Goddard, J. M. Olson, H. Payami, M. Van Der Voet, H. Kuivaniemi and G. Tromp: Evidence of linkage and association on chromosome 20 for lateonset Alzheimer disease. Neurogenetics, 5(2), 121-128 (2004)
153. Gene overview of all published AD-Association studies for CST3:Http://www.alzforum.org/res/com/gen/alzgene/geneover view.asp?geneid=66.
154. L. Benussi, R. Ghidoni, T. Steinhoff, A. Alberici, A. Villa, F. Mazzoli, F. Nicosia, L. Barbiero, L. Broglio, E. Feudatari, S. Signorini, U. Finckh, R. M. Nitsch and G. Binetti: Alzheimer disease-Associated cystatin C variant undergoes impaired secretion. Neurobiol Dis, 13(1), 15-21 (2003)
155. L. Paraoan, A. Ratnayaka, D. G. Spiller, P. Hiscott, M. R. White and I. Grierson: Unexpected intracellular localization of the AMD-Associated cystatin C variant. Traffic, 5(11), 884-895 (2004)
156. R. Ghidoni, L. Benussi, A. Paterlini, C. Missale, A. Usardi, R. Rossi, L. Barbiero, P. Spano and G. Binetti: Presenilin 2 mutations alter cystatin C trafficking in mouse primary neurons. Neurobiol Aging, 28(3), 371-376 (2007)
157. O. Yasuhara, K. Hanai, I. Ohkubo, M. Sasaki, P. L. McGeer and H. Kimura:
158. A. M. Cataldo, J. L. Barnett, S. A. Berman, J. Li, S. Quarless, S. Bursztajn, C. Lippa and R. A. Nixon: Gene expression and cellular content of cathepsin D in Alzheimer's disease brain: Evidence for early up-regulation of the endosomal-lysosomal system. Neuron, 14, 671-680 (1995)
159. A. M. Cataldo, D. J. Hamilton, J. L. Barnett, P. A. Paskevich and R. A. Nixon: Properties of the endosomallysosomal system in the human central nervous system: Disturbances mark most neurons in populations at risk to degenerate in Alzheimer's disease. J Neurosci, 16, 186-199 (1996)
160. M. Pawlik, M. Sastre, M. Calero, P. M. Mathews, S. D. Schmidt, R. A. Nixon and E. Levy: Overexpression of human cystatin C in transgenic mice does not affect levels of endogenous brain amyloid beta peptide. J Mol Neurosci, 22(1-2), 13-18 (2004)
161. Y. Bai, K. Markham, F. Chen, R. Weerasekera, J. Watts, P. Horne, Y. Wakutani, R. Bagshaw, P. M. Mathews, P. E. Fraser, D. Westaway, P. St George-Hyslop and G. Schmitt-Ulms: The in vivo brain interactome of the amyloid precursor protein. Mol Cell Proteomics, 7(1), 15-34 (2008)
162. W. Mi, S. S. Jung, H. Yu, S. D. Schmidt, R. A. Nixon, P. M. Mathews, F. Tagliavini and E. Levy: Complexes of amyloid-Beta and cystatin C in the human central nervous system. J Alzheimers Dis, 18(2), 273-280 (2009)
163. M. L. Selenica, X. Wang, L. Ostergaard-Pedersen, A. Westlind-Danielsson and A. Grubb: Cystatin C reduces the in vitro formation of soluble amyloid-Beta 1-42 oligomers and protofibrils. Scand J Clin Lab Invest, 67(2), 179-190 (2007)
164. B. Tizon, E. M. Ribe, W. Mi, C. M. Troy and E. Levy: Cystatin C protects neuronal cells from amyloid beta-induced toxicity. J Alzheimers Dis, 19(3), 665-894 (2010)
165. R. J. Simpson, S. S. Jensen and J. W. Lim: Proteomic profiling of exosomes: Current perspectives. Proteomics, 8(19), 4083-4099 (2008)
166. A. Lakkaraju and E. Rodriguez-Boulan: Itinerant exosomes: Emerging roles in cell and tissue polarity. Trends Cell Biol, 18(5), 199-209 (2008)
167. N. R. Smalheiser: Exosomal transfer of proteins and RNAs at synapses in the nervous system. Biol Direct, 2, 35 (2007)
168. L. J. Vella, R. A. Sharples, R. M. Nisbet, R. Cappai and A. F. Hill: The role of exosomes in the processing of proteins associated with neurodegenerative diseases. Eur Biophys J, 37(3), 323-332 (2008)
169. L. Rajendran, M. Honsho, T. R. Zahn, P. Keller, K. D. Geiger, P. Verkade and K. Simons: Alzheimer's disease beta-Amyloid peptides are released in association with exosomes. Proc Natl Acad Sci USA, 103(30), 11172-11177 (2006)
170. R. A. Sharples, L. J. Vella, R. M. Nisbet, R. Naylor, K. Perez, K. J. Barnham, C. L. Masters and A. F. Hill: Inhibition of gamma-secretase causes increased secretion of amyloid precursor protein C-terminal fragments in association with exosomes. Faseb J, 22(5), 1469-1478 (2008)
171. V. Vingtdeux, M. Hamdane, A. Loyens, P. Gele, H. Drobeck, S. Begard, M. C. Galas, A. Delacourte, J. C. Beauvillain, L. Buee and N. Sergeant: Alkalizing drugs induce accumulation of amyloid precursor protein byproducts in luminal vesicles of multivesicular bodies. J Biol Chem, 282(25), 18197-18205 (2007)
172. R. Ghidoni, A. Paterlini, V. Albertini, M. Glionna, E. Monti, L. Schiaffonati, L. Benussi, E. Levy and G. Binetti: Cystatin C is released in association with exosomes: A new tool of neuronal communication which is unbalanced in Alzheimer's disease. Neurobiol Aging, in press (2009)
173. S. Kiuru, O. Salonen and M. Haltia: Gelsolin-related spinal and cerebral amyloid angiopathy. Ann Neurol, 45, 305-311 (1999)
174. S. Kiuru-Enari, H. Somer, A. M. Seppalainen, I. L. Notkola and M. Haltia: Neuromuscular pathology in hereditary gelsolin amyloidosis. J Neuropathol Exp Neurol, 61(6), 565-571 (2002)
175. J. Ghiso, G. T. Plant, T. Revesz, T. Wisniewski and B. Frangione: Familial cerebral amyloid angiopathy (British type) with nonneuritic amyloid plaque formation may be due to a novel amyloid protein. J Neurol Sci, 129, 74-75 (1995) )