SEARCH

SEARCH BY CITATION

References

  • Abrahamson M, Barrett AJ, Salvesen G, Grubb A. (1986) Isolation of six cysteine proteinase inhibitors from human urine. Their physicochemical and enzyme kinetic properties and concentrations in biological fluids. J Biol Chem 261:1128211289.
  • Alakurtti K, Weber E, Rinne R, Theil G, De Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE. (2005) Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. Eur J Hum Genet 13:208215.
  • Alakurtti K, Virtaneva K, Joensuu T, Palvimo JJ, Lehesjoki AE. (2000) Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. Gene 242:6573.
  • Auerswald EA, Nagler DK, Assfalg-Machleidt I, Stubbs MT, Machleidt W, Fritz H. (1995) Hairpin loop mutations of chicken cystatin have different effects on the inhibition of cathepsin B, cathepsin L and papain. FEBS Lett 361:179184.
  • Barrett AJ. (1986) The cystatins: a diverse superfamily of cysteine peptidase inhibitors. Biomed Biochim Acta 45:13631374.
  • Barrett AJ, Fritz H, Grubb A, Isemura S, Järvinen M, Katunuma N, Machleidt W, Muller-Esterl W, Sasaki M, Turk V. (1986) Nomenclature and classification of the proteins homologous with the cysteine-proteinase inhibitor chicken cystatin. Biochem J 236:312.
  • Berkovic SF, Andermann F, Carpenter S, Wolfe LS. (1986) Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 315:296305.
  • Berkovic SF, Mazarib A, Walid S, Neufeld MY, Manelis J, Nevo Y, Korczyn AD, Yin J, Xiong L, Pandolfo M, Mulley JC, Wallace RH. (2005) A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. Brain 128:652658.
  • Bespalova IN, Adkins S, Pranzatelli M, Burmeister M. (1997a) Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. Am J Med Genet 74:467471.
  • Bespalova IN, Pranzatelli M, Burmeister M. (1997b) G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene. Mutat Res 382:6774.
  • Bode W, Engh R, Musil D, Thiele U, Huber R, Karshikov A, Brzin J, Kos J, Turk V. (1988) The 2.0 A X-ray crystal structure of chicken egg white cystatin and its possible mode of interaction with cysteine proteinases. Embo J 7:25932599.
  • Brännvall K, Hjelm H, Korhonen L, Lahtinen U, Lehesjoki AE, Lindholm D. (2003) Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes. Biochem Biophys Res Commun 308:369374.
  • Bromme D, Rinne R, Kirschke H. (1991) Tight-binding inhibition of cathepsin S by cystatins. Biomed Biochim Acta 50:631635.
  • Calkins CC, Sameni M, Koblinski J, Sloane BF, Moin K. (1998) Differential localization of cysteine protease inhibitors and a target cysteine protease, cathepsin B, by immuno-confocal microscopy. J Histochem Cytochem 46:745751.
  • D'Amato E, Kokaia Z, Nanobashvili A, Reeben M, Lehesjoki AE, Saarma M, Lindvall O. (2000) Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons. Eur J Neurosci 12:16871695.
  • De Haan GJ, Halley DJ, Doelman JC, Geesink HH, Augustijn PB, Jager-Jongkind AD, Majoie M, Bader AJ, Leliefeld-Ten Doeschate LA, Deelen WH, Bertram E, Lehesjoki AE, Lindhout D. (2004) Unverricht-Lundborg disease: underdiagnosed in the Netherlands. Epilepsia 45:10611063.
  • Di Giaimo R, Riccio M, Santi S, Galeotti C, Ambrosetti DC, Melli M. (2002) New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B. Hum Mol Genet 11:29412950.
  • Franceschetti S, Sancini G, Buzzi A, Zucchini S, Paradiso B, Magnaghi G, Frassoni C, Chikhladze M, Avanzini G, Simonato M. (2007) A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. Neurobiol Dis 25:675685.
  • Green GD, Kembhavi AA, Davies ME, Barrett AJ. (1984) Cystatin-like cysteine proteinase inhibitors from human liver. Biochem J 218:939946.
  • Houseweart MK, Pennacchio LA, Vilaythong A, Peters C, Noebels JL, Myers RM. (2003) Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1). J Neurobiol 56:315327.
  • Järvinen M, Rinne A. (1982) Human spleen cysteine proteinase inhibitor. Purification, fractionation into isoelectric variants and some properties of the variants. Biochim Biophys Acta 708:210217.
  • Jerala R, Trstenjak M, Lenarcic B, Turk V. (1988) Cloning a synthetic gene for human stefin B and its expression in E. coli. FEBS Lett 239:4144.
  • Jerala R, Trstenjak-Prebanda M, Kroon-Zitko L, Lenarcic B, Turk V. (1990) Mutations in the QVVAG region of the cysteine proteinase inhibitor stefin B. Biol Chem Hoppe Seyler 371(Suppl):157160.
  • Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE. (2007) Cystatin B: mutation detection, alternative splicing and expression in progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. Eur J Hum Genet 15:185193.
  • Kagitani-Shimono K, Imai K, Okamoto N, Ono J, Okada S. (2002) Unverricht-Lundborg disease with cystatin B gene abnormalities. Pediatr Neurol 26:5560.
  • Krizaj I, Turk B, Turk V. (1992) The complete primary structure of bovine stefin B. FEBS Lett 298:237239.
  • Lafreniere RG, Rochefort DL, Chretien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Soderfeldt B, Federico A, Hale BR, Cossio OH, Sorensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA. (1997) 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 15:298302.
  • Laitala-Leinonen T, Rinne R, Saukko P, Väänänen HK, Rinne A. (2006) Cystatin B as an intracellular modulator of bone resorption. Matrix Biol 25:149157.
  • Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE. (1997a) Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet 60:342351.
  • Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE. (1997b) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386:847851.
  • Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider R, Dravet C, Chkili T, Bottani A, Buresi C, Malafosse A, Antonarakis SE. (1998) A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. Am J Hum Genet 62:842847.
  • Lalioti MD, Scott HS, Antonarakis SE. (1999) Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. Hum Mol Genet 8:17911798.
  • Lehesjoki AE, Koskiniemi M, Sistonen P, Miao J, Hästbacka J, Norio R, De La Chapelle A. (1991) Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 88:36963699.
  • Lehesjoki AE, Koskiniemi M, Norio R, Tirrito S, Sistonen P, Lander E, De La Chapelle A. (1993) Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet 2:12291234.
  • Lenarcic B, Krizaj I, Zunec P, Turk V. (1996) Differences in specificity for the interactions of stefins A, B and D with cysteine proteinases. FEBS Lett 395:113118.
  • Machleidt W, Thiele U, Assfalg-Machleidt I, Forger D, Auerswald EA. (1991) Molecular mechanism of inhibition of cysteine proteinases by their protein inhibitors: kinetic studies with natural and recombinant variants of cystatins and stefins. Biomed Biochim Acta 50:613620.
  • Marseille Consensus Group. (1990) Classification of progressive myoclonus epilepsies and related disorders Ann Neurol 28:113116.
  • Pataskar SS, Dash D, Brahmachari SK. (2001) Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH. J Biomol Struct Dyn 19:293305.
  • Pennacchio LA, Myers RM. (1996) Isolation and characterization of the mouse cystatin B gene. Genome Res 6:11031109.
  • Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, De La Chapelle A, Cox DR, Myers RM. (1996) Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271:17311734.
  • Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. (1998) Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet 20:251258.
  • Pol E, Björk I. (1999) Importance of the second binding loop and the C-terminal end of cystatin B (stefin B) for inhibition of cysteine proteinases. Biochemistry 38:1051910526.
  • Rawlings ND, Barrett AJ. (1990) Evolution of proteins of the cystatin superfamily. J Mol Evol 30:6071.
  • Riccio M, Di Giaimo R, Pianetti S, Palmieri PP, Melli M, Santi S. (2001) Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1). Exp Cell Res 262:8494.
  • Rinne A, Järvinen M, Martikainen J, Alavaikko M, Räsänen O. (1981) Über das Vorkommen des epidermalen SH-Protease-Inhibitors im lymphatischen Gewebe. Verb Anat Ges 75:573574.
  • Rinne R, Saukko P, Järvinen M, Lehesjoki AE. (2002) Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. Ann Med 34:380385.
  • Ritonja A, Machleidt W, Barrett AJ. (1985) Amino acid sequence of the intracellular cysteine proteinase inhibitor cystatin B from human liver. Biochem Biophys Res Commun 131:11871192.
  • Ritonja A, Coetzer TH, Pike RN, Dennison C. (1996) The amino acid sequences, structure comparisons and inhibition kinetics of sheep cathepsin L and sheep stefin B. Comp Biochem Physiol B Biochem Mol Biol 114:193198.
  • Saha T, Usdin K. (2001) Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases. FEBS Lett 491:184187.
  • Sato N, Ishidoh K, Uchiyama Y, Kominami E. (1992) Structural organization of the gene encoding rat cystatin beta. Gene 114:257260.
  • Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM. (2002) Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. J Neuropathol Exp Neurol 61:10851091.
  • Stone NE, Fan JB, Willour V, Pennacchio LA, Warrington JA, Hu A, De La Chapelle A, Lehesjoki AE, Cox DR, Myers RM. (1996) Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene. Genome Res 6:218225.
  • Stubbs MT, Laber B, Bode W, Huber R, Jerala R, Lenarcic B, Turk V. (1990) The refined 2.4 A X-ray crystal structure of recombinant human stefin B in complex with the cysteine proteinase papain: a novel type of proteinase inhibitor interaction. EMBO J 9:19391947.
  • Turk V, Bode W. (1991) The cystatins: protein inhibitors of cysteine proteinases. FEBS Lett 285:213219.
  • Turk B, Turk D, Turk V. (2000) Lysosomal cysteine proteases: more than scavengers. Biochim Biophys Acta 1477:98111.
  • Virtaneva K, Miao J, Träskelin AL, Stone N, Warrington JA, Weissenbach J, Myers RM, Cox DR, Sistonen P, De La Chapelle A, Lehesjoki AE. (1996) Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q. Am J Hum Genet 58:12471253.
  • Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, De La Chapelle A, Lehesjoki AE. (1997) Unstable mini satellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 15:393396.