References
- Arnason A. Apoplexie und ihre vererbung. Ada Psychiat Neurol 1935; 7: 1–180
- Gudmundsson G, Hallgrimsson J, Jonasson T A, Bjarnason O. Hereditary cerebral haemorrhage with amyloidosis. Brain 1972; 95: 387–404
- Olafsson I, Grubb A. Hereditary cystatin C amyloid angiopathy. Amyloid: Int JExp Clin Invest 2000; 7: 70–79
- Graffagnino C, Herbstreith M H, Schmechel D E, Levy E, Roses A D, Alberts M J. Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage. Stroke 1995; 26: 2190–2193
- Sveinbjörnsdóttir S, Blöndal H, Gudmundsson G, Kjartansson O, Jónsdóttir S. Progressive dementia and leucoencephalopathy as the initial presentation of late onset hereditary cystatin-C amyloidosis. Clinicopathological presentation of two cases. J Neurol Sci 1996; 140: 101–108
- Löfberg H, Grubb A O, Nilsson E K, Jensson O, Gudmundsson G, Blöndal H, Arnason A, Thorsteinsson L. Im-munohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis. Stroke 1987; 18: 431–440
- Blöndal H, Gudmundsson G, Benedikz E, Johannesson G. Dementia in hereditary cystatin C amyloidosis. Prog Clin Biol Res 1989; 317: 157–164
- Westermark P. Classification of amyloid fibril proteins and their precursors: an ongoing discussion. Amyloid: Int J Exp Clin Invest 1997; 4: 216–218
- Grubb A, Löfberg H. Human γ-trace, a basic microprotein: amino acid sequence and presence in the ad-enohypophysis. Proc Natl Acad Sci USA 1982; 79: 3024–3027
- Barrett A J, Davies M E, Grubb A. The place of human γ-trace (cystatin C) amongst the cysteine proteinase inhibitors. Biochem Biophys Res Commun 1984; 120: 631–636
- Cohen D H, Feiner H, Jensson O, Frangione B. Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, y-trace. J Exp Med 1983; 158: 623–628
- Grubb A, Lofberg H. Human γ-trace. Structure, function and clinical use of concentration measurements. ScandJ Clin Lab Invest 1985; 45: 7–13
- Ghiso J, Jensson O, Frangione B. Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of γ-trace basic protein (cystatin C). Proc Natl Acad Sci USA 1986; 83: 2974–2978
- Palsdottir A, Abrahamson M, Thorsteinsson L, Arnason A, Olafsson I, Grubb A, Jensson O. Mutation in cystatin C gene causes hereditary brain haemorrhage. Lancet 1988; 2: 603–604
- Abrahamson M, Jonsdottir S, Olafsson I, Jensson O, Grubb A. Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. Hum Genet 1992; 89: 377–380
- Abrahamson M, Olafsson I, Palsdottir A, Ulvsback M, Lundwall A, Jensson O, Grubb A. Structure and expression of the human cystatin C gene. Biochem J 1990; 268: 287–294
- Emilsson V, Thorsteinsson L, Jensson O, Gudmundsson G. Human cystatin C gene expression and regulation by TGF-β1: Implications for the pathogenesis of hereditary cystatin C amyloid angiopathy causing brain hemorrhage. Amyloid: Int J Exp Clin Invest 1996; 3: 110–118
- Grubb A, Jensson O, Gudmundsson G, Arnason A, Lofberg H, Malm J. Abnormal metabolism of γ-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis. N Engl J Medi W 1984; 1547–1549
- Jonsdottir S, Palsdottir A. Molecular diagnosis of hereditary cystatin C amyloid angiopathy. Biochem Med Metab Biol 1993; 49: 117–123
- Abrahamson M, Dalbege H, Olafsson I, Carlsen S, Grubb A. Efficient production of native, biologically active human cystatin C by Escherichia coli. FEBSLett 1988; 236: 14–18
- Abrahamson M, Grubb A. Increased body temperature accelerates aggregation of the Leu-68Gln mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy. Proc Natl Acad Sci USA 1994; 91: 1416–1420
- Thorsteinsson L, Georgsson G, Asgeirsson B, Bjamadottir M, Olafsson I, Jensson O, Gudmundsson G. On the role of monocytes/macrophages in the pathogenesis of central nervous system lesions in hereditary cystatin C amyloid angiopathy. J Neurol Sci 1992; 108: 121–128
- Bjamadottir M, Wulff B, Sameni M, Sloane B, Keppler D, Grubb A, Abrahamson M. Intracellular accumulation of the amyloidogenic L68Q variant of human cystatin C in NIH/3T3 cells. J Clin Pathol: Mol Pathol 1998; 51: 317–326
- Benedikz E, Merz G S, Schwenk V, Johansen T E, Wisniewski H M, Rushbrook J I. Cellular processing of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. Amyloid: Int J Exp Clin Invest 1999; 6: 172–182
- Wei L, Berman Y, Castano E M, Cadene M, Beavis R C, Devi L, Levy E. Instability of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. J Biol Chem 1998; 273: 11806–11814
- Tencer J, Thysell H, Andersson K, Grubb A. Stability of albumin, protein HC, immunoglobulin G, K- and X-,chain immunoreactivity, orosomucoid and c-antitrypsin in urine stored at various conditions. Scand J Clin Lab Invest 1994; 54: 199–206
- Abrahamson M, Barrett A J, Salvesen G, Grubb A. Isolation of six cysteine proteinase inhibitors from human urine. Their physicochemical and enzyme kinetic properties and concentrations in biological fluids. J Biol Chem 1986; 261: 11282–11289
- Olafsson I, Löfberg H, Abrahamson M, Grubb A. Production, characterization and use of monoclonal antibodies against the major extracellular human cysteine proteinase inhibitors cystatin C and kininogen. Scand J Clin Lab Invest 1988; 48: 573–582
- Bjamadottir M, Grubb A, Olafsson I. Promoter-mediated, dexamethasone-induced increase in cystatin C production by HeLa cells. Scand J Clin Lab Invest 1995; 55: 617–623
- Laemmli U K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970; 227: 680–685
- Asgeirsson B, Haebel S, Thorsteinsson L, Helgason E, Gudmundsson K O, Gudmundsson G, Roepstorff P. Hereditary cystatin C amyloid angiopathy: monitoring the presence of the Leu-68Gln cystatin C variant in cerebrospinal fluids and monocyte cultures by MS. Biochem, J 1998; 329: 497–503
- Mann M, Højrup P, Roepstorff P. Use of mass spectrometric molecular weight information to identify proteins in sequence databases. Biol Mass Spectrom 1993; 22: 338–345
- Pappin D JC, Hojrup P, Beasby A J. Rapid identification of proteins by peptide-mass fingerprinting. CurrBiol 1993; 3: 327–332
- Yates J R D, Speicher S, Griffin P R, Hunkapiller T. Peptide mass maps: a highly informative approach to protein identification. Anal Biochem 1993; 214: 397–408
- James P, Quadroni M, Carafoli E, Gonnet G. Protein identification by mass profile fingerprinting. Biochem Biophys Res Commun 1993; 195: 58–64
- James P, Quadroni M, Carafoli E, Gonnet G. Protein identification in DNA databases by peptide mass fingerprinting. Protein Sci 1994; 3: 1347–1350
- HenzEl W J, Billed T M, Stults J T, Wong S C, Grimley C, Watanabe C. Identifying proteins from two-dimensional gels by molecular mass searching of peptide fragments in protein sequence databases. Proc Natl Acad Sci USA 1993; 90: 5011–5015
- Henzel W J, Billed T M, Stults J T, Wong S C, Grimley C, Watanabe C. Identification of 2-D gel proteins at the femtomole level by molecular mass searching of peptide fragments in a protein sequence database. Techniques in Protein Chemistry 1994; V: 3–9
- Westman A, Nilsson C L, Ekman R. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis of proteins in human cerebrospinal fluid. Rapid Commun Mass Spectrom 1998; 12: 1092–1098
- Théberge R, Connors L, Skinner M, Skare J, Costello C E. Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry. Anal Chem 1999; 71: 452–459
- Gerhartz B, Ekiel I, Abrahamson M. Two stable unfolding intermediates of the disease-causing L68Q variant of human cystatin C. Biochemistry 1998; 37: 17309–17317
- Ekiel I, Abrahamson M, Fulton D B, Lindahl P, Storer A C, Levadoux W, Lafrance M, Labelle S, Pomerleau Y, Groleau D, LeSauteur L, Gehring K. NMR structural studies of human cystatin C dimers and monomers. J Mol Biol 1997; 271: 266–277
- Ekiel I, Abrahamson M. Folding-related dimer-ization of human cystatin C. J Biol Chem 1996; 111: 1314–1321
- Maruyama K, Ikeda S, Ishihara T, Allsop D, Yanagisawa N. Immunohistochemical characterization of cerebrovascular amyloid in 46 autopsied cases using antibodies to β-protein and cystatin C. Stroke 1990; 21: 397–403
- Haan J, Maat-Schieman M L, van Duinen S G, Jensson O, Thorsteinsson L, Roos R A. Co-localization of p/ A4 and cystatin C in cortical blood vessels in Dutch, but not in Icelandic hereditary cerebral hemorrhage with amyloidosis. Acta Neurol Scand 1994; 89: 367–371
- Shimode K, Kobayashi S, Imaoka K, Umegae N, Nagai A. Leukoencephalopathy-related cerebral amyloid angiopathy with cystatin C deposition. Stroke 1996; 27: 1417–1419
- Vinters H V, Secor D L, Pardridge W M, Gray F. Immunohistochemical study of cerebral amyloid angiopathy. III. Widespread Alzheimer A4 peptide in cerebral microvessel walls colocalizes with y-trace in patients with leukoencepha-lopathy. Ann Neurol 1990; 28: 34–42
- Anders K H, Wang Z Z, Kornfeld M, Gray F, Soontornniyomkij V, Reed L A, Hart M N, Menchine M, Secor D L, Vinters H V. Giant cell arteritis in association with cerebral amyloid angiopathy: immunohistochemical and molecular studies. Hum Pathol 1997; 28: 1237–1246
- Maruyama K, Kametani F, Ikeda S, Ishihara T, Yanagisawa N. Characterization of amyloid fibril protein from a case of cerebral amyloid angiopathy showing immunohistochemical reactivity for both P-protein and cystatin C. Neurosci Lett 1992; 144: 38–42
- Jensson O, Gudmundsson G, Arnason A, Blondal H, Petursdottir I, Thorsteinsson L, Grubb A, Lofberg H, Cohen D, Frangione B. Hereditary cystatin C (y-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage. Acta Neurol Scand 1987; 76: 102–114