{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T03:48:23Z","timestamp":1790999303362,"version":"4.1.0"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2005,2,1]]},"DOI":"10.1038\/sj.ejhg.5201300","type":"journal-article","created":{"date-parts":[[2004,10,14]],"date-time":"2004-10-14T04:51:45Z","timestamp":1097729505000},"page":"208-215","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":66,"title":["Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations"],"prefix":"10.1038","volume":"13","author":[{"given":"Kirsi","family":"Alakurtti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekkehard","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riitta","family":"Rinne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerit","family":"Theil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerrit-Jan de","family":"Haan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dick","family":"Lindhout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Salmikangas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pekka","family":"Saukko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulla","family":"Lahtinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Elina","family":"Lehesjoki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2004,10,13]]},"reference":[{"key":"BF5201300_CR1","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1111\/j.1600-0404.1974.tb02782.x","volume":"50","author":"M Koskiniemi","year":"1974","unstructured":"Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R : Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurol Scand 1974; 50: 307\u2013332.","journal-title":"Acta Neurol Scand"},{"key":"BF5201300_CR2","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1111\/j.1399-0004.1979.tb01770.x","volume":"15","author":"R Norio","year":"1979","unstructured":"Norio R, Koskiniemi M : Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet 1979; 15: 382\u2013398.","journal-title":"Clin Genet"},{"key":"BF5201300_CR3","doi-asserted-by":"publisher","first-page":"1731","DOI":"10.1126\/science.271.5256.1731","volume":"271","author":"LA Pennacchio","year":"1996","unstructured":"Pennacchio LA, Lehesjoki A-E, Stone NE et al: Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996; 271: 1731\u20131734.","journal-title":"Science"},{"key":"BF5201300_CR4","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1038\/ng0397-298","volume":"15","author":"RG Lafreniere","year":"1997","unstructured":"Lafreniere RG, Rochefort DL, Chretien N et al: Unstable insertion in the 5\u2032 flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 1997; 15: 298\u2013302.","journal-title":"Nat Genet"},{"key":"BF5201300_CR5","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1038\/386847a0","volume":"386","author":"MD Lalioti","year":"1997","unstructured":"Lalioti MD, Scott HS, Buresi C et al: Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 1997; 386: 847\u2013851.","journal-title":"Nature"},{"key":"BF5201300_CR6","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1038\/ng0497-393","volume":"15","author":"K Virtaneva","year":"1997","unstructured":"Virtaneva K, D'Amato E, Miao J et al: Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet 1997; 15: 393\u2013396.","journal-title":"Nat Genet"},{"key":"BF5201300_CR7","first-page":"791","volume":"81","author":"MD Lalioti","year":"1999","unstructured":"Lalioti MD, Scott HS, Antonarakis SE : 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 1999; 81: 791\u2013798.","journal-title":"Hum Mol Genet"},{"key":"BF5201300_CR8","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/S0378-1119(99)00550-8","volume":"242","author":"K Alakurtti","year":"2000","unstructured":"Alakurtti K, Virtaneva K, Joensuu T, Palvimo JJ, Lehesjoki A-E : Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. Gene 2000; 242: 65\u201373.","journal-title":"Gene"},{"key":"BF5201300_CR9","first-page":"342","volume":"60","author":"MD Lalioti","year":"1997","unstructured":"Lalioti MD, Mirotsou M, Buresi C et al: Identification of mutations in cystatin B, the gene responsible for the Unverricht\u2013Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet 1997; 60: 342\u2013351.","journal-title":"Am J Hum Genet"},{"key":"BF5201300_CR10","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/S0887-8994(01)00336-8","volume":"26","author":"K Kagitani-Shimono","year":"2002","unstructured":"Kagitani-Shimono K, Imai K, Okamoto N, Ono NJ, Okada S : Unverricht\u2013Lundborg disease with cystatin B gene abnormalities. Pediatr Neurol 2002; 26: 55\u201360.","journal-title":"Pediatr Neurol"},{"key":"BF5201300_CR11","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1111\/j.0013-9580.2004.43703.x","volume":"45","author":"GJ de Haan","year":"2004","unstructured":"de Haan GJ, Halley DJJ, Doelman CJ et al: Unverricht\u2013Lundborg disease: Underdiagnosed in the Netherlands. Epilepsia 2004; 45: 1061\u20131063.","journal-title":"Epilepsia"},{"key":"BF5201300_CR12","doi-asserted-by":"publisher","first-page":"1939","DOI":"10.1002\/j.1460-2075.1990.tb08321.x","volume":"9","author":"MT Stubbs","year":"1990","unstructured":"Stubbs MT, Laber B, Bode W et al: The refined 2.4 \u00c5 X-ray crystal structure of recombinant human stefin B in complex with the cystein protease papain: a novel type of proteinase inhibitor interaction. EMBO J 1990; 9: 1939\u20131947.","journal-title":"EMBO J"},{"key":"BF5201300_CR13","doi-asserted-by":"publisher","first-page":"939","DOI":"10.1042\/bj2180939","volume":"218","author":"GD Green","year":"1984","unstructured":"Green GD, Kembhavi AA, Davies ME, Barrett AJ : Cystatin-like cysteine proteinase inhibitors from human liver. Biochem J 1984; 218: 939\u2013946.","journal-title":"Biochem J"},{"key":"BF5201300_CR14","first-page":"631","volume":"50","author":"D Br\u00f6mme","year":"1991","unstructured":"Br\u00f6mme D, Rinne R, Kirschke H : Tight-binding inhibition of cathepsin S by cystatins. Biomed Biochim Acta 1991; 50: 631\u2013635.","journal-title":"Biomed Biochim Acta"},{"key":"BF5201300_CR15","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1080\/078538902320772124","volume":"34","author":"R Rinne","year":"2002","unstructured":"Rinne R, Saukko P, J\u00e4rvinen M, Lehesjoki A-E : Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. Ann Med 2002; 34: 380\u2013385.","journal-title":"Ann Med"},{"key":"BF5201300_CR16","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1038\/3059","volume":"20","author":"LA Pennacchio","year":"1998","unstructured":"Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM : Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet 1998; 20: 251\u2013258.","journal-title":"Nat Genet"},{"key":"BF5201300_CR17","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1093\/jnen\/61.12.1085","volume":"61","author":"P Shannon","year":"2002","unstructured":"Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM : Neuropathological changes in a mouse model of progressive myoclonus epilepsy, cystatin B deficiency and Unverricht\u2013Lundborg disease. J Neuropathol Exp Neurol 2002; 61: 1085\u20131091.","journal-title":"J Neuropathol Exp Neurol"},{"key":"BF5201300_CR18","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1002\/neu.10253","volume":"56","author":"MK Houseweart","year":"2003","unstructured":"Houseweart MK, Pennacchio LA, Vilaythong A, Peters C, Noebels JL, Myers RM : Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht\u2013Lundborg progressive myoclonus epilepsy (EPM1). J Neurobiol 2003; 56: 315\u2013327.","journal-title":"J Neurobiol"},{"key":"BF5201300_CR19","doi-asserted-by":"publisher","first-page":"1687","DOI":"10.1046\/j.1460-9568.2000.00058.x","volume":"12","author":"E D'Amato","year":"2000","unstructured":"D'Amato E, Kokaia Z, Nanobashvili A et al: Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons. Eur J Neurosci 2000; 12: 1687\u20131695.","journal-title":"Eur J Neurosci"},{"key":"BF5201300_CR20","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1016\/0167-4838(82)90222-9","volume":"708","author":"M J\u00e4rvinen","year":"1982","unstructured":"J\u00e4rvinen M, Rinne A : Human spleen cysteine protease inhibitor. Purification, fractionation into isoelectric variants and some properties of the variants. Biochim Biophys Acta 1982; 708: 210\u2013217.","journal-title":"Biochim Biophys Acta"},{"key":"BF5201300_CR21","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1038\/256495a0","volume":"56","author":"G K\u00f6hler","year":"1975","unstructured":"K\u00f6hler G, Milstein C : Continuous culture of fused cells secreting antibodies of predefined specificity. Nature 1975; 56: 495\u2013497.","journal-title":"Nature"},{"key":"BF5201300_CR22","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1089\/hyb.1997.16.159","volume":"16","author":"E Weber","year":"1997","unstructured":"Weber E, Bahn H, G\u00fcnther D : Monoclonal antibodies against cathepsin L and procathepsin L of different species. Hybridoma 1997; 16: 159\u2013166.","journal-title":"Hybridoma"},{"key":"BF5201300_CR23","first-page":"149","volume":"66","author":"R Frank","year":"1996","unstructured":"Frank R, Overwin H : Spot synthesis. Epitope analysis with arrays of synthetic peptides prepared on cellulose membranes. Methods Mol Biol 1996; 66: 149\u2013169.","journal-title":"Methods Mol Biol"},{"key":"BF5201300_CR24","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/0022-510X(77)90018-1","volume":"32","author":"R Yasin","year":"1977","unstructured":"Yasin R, van Beers G, Nurse KCE, Al-Ani S, Landon DN, Thompson EJ : A quantitative technique for growing human adult skeletal muscle in culture starting from mononucleated cells. J Neurol Sci 1977; 32: 347\u2013360.","journal-title":"J Neurol Sci"},{"key":"BF5201300_CR25","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1042\/bj2860613","volume":"286","author":"N Enomaa","year":"1992","unstructured":"Enomaa N, Heiskanen T, Halila R et al: Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts. Biochem J 1992; 286: 613\u2013618.","journal-title":"Biochem J"},{"key":"BF5201300_CR26","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1177\/41.7.7685790","volume":"41","author":"NE Enomaa","year":"1993","unstructured":"Enomaa NE, Lukinmaa PL, Ikonen EM et al: Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients. J Histochem Cytochem 1993; 41: 981\u2013989.","journal-title":"J Histochem Cytochem"},{"key":"BF5201300_CR27","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1177\/002215549804600607","volume":"46","author":"CC Calkins","year":"1998","unstructured":"Calkins CC, Sameni M, Koblinski J, Sloane BF, Moin K : Differential localization of cysteine protease inhibitors and a target cysteine protease, cathepsin B, by immuno-confocal microscopy. J Histochem Cytochem 1998; 46: 745\u2013751.","journal-title":"J Histochem Cytochem"},{"key":"BF5201300_CR28","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1006\/excr.2000.5085","volume":"262","author":"M Riccio","year":"2001","unstructured":"Riccio M, Di Giaimo R, Pianetti S, Palmieri PP, Melli M, Santi S : Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1). Exp Cell Res 2001; 262: 84\u201394.","journal-title":"Exp Cell Res"},{"key":"BF5201300_CR29","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1016\/S0006-291X(03)01386-X","volume":"308","author":"K Br\u00e4nnvall","year":"2003","unstructured":"Br\u00e4nnvall K, Hjelm H, Korhonen L, Lahtinen U, Lehesjoki A-E, Lindholm D : Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes. Biochem Biophys Res Commun 2003; 308: 369\u2013374.","journal-title":"Biochem Biophys Res Commun"},{"key":"BF5201300_CR30","doi-asserted-by":"publisher","first-page":"7551","DOI":"10.1021\/bi980026r","volume":"37","author":"S Estrada","year":"1998","unstructured":"Estrada S, Nycander M, Hill NJ, Craven CJ, Waltho JP, Bj\u00f6rk I : The role of Gly-4 of human cystatin A (stefin A) in the binding of target proteinases. Characterization by kinetic and equilibrium methods of the interactions of cystatin A Gly-4 mutants with papain, cathepsin B, and cathepsin L. Biochemistry 1998; 37: 7551\u20137560.","journal-title":"Biochemistry"},{"key":"BF5201300_CR31","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1110\/ps.11901","volume":"10","author":"E Pol","year":"2001","unstructured":"Pol E, Bj\u00f6rk I : Role of the single cysteine residue, Cys 3, of human and bovine cystatin B (stefin B) in the inhibition of cysteine proteases. Protein Sci 2001; 10: 1729\u20131738.","journal-title":"Protein Sci"},{"key":"BF5201300_CR32","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/S1570-9639(02)00526-5","volume":"1645","author":"E Pol","year":"2003","unstructured":"Pol E, Bj\u00f6rk I : Contributions of individual residues in the N-terminal region of cystatin B (stefin B) to inhibition of cysteine proteases. Biochim Biophys Acta 2003; 1645: 105\u2013112.","journal-title":"Biochim Biophys Acta"},{"key":"BF5201300_CR33","doi-asserted-by":"publisher","first-page":"10519","DOI":"10.1021\/bi990488k","volume":"38","author":"E Pol","year":"1999","unstructured":"Pol E, Bj\u00f6rk I : Importance of the second binding loop and the C-terminal end of cystatin B (stefin B) for inhibition of cysteine proteinases. Biochemistry 1999; 38: 10519\u201310526.","journal-title":"Biochemistry"},{"key":"BF5201300_CR34","doi-asserted-by":"publisher","first-page":"2941","DOI":"10.1093\/hmg\/11.23.2941","volume":"11","author":"R Di Giaimo","year":"2002","unstructured":"Di Giaimo R, Riccio M, Santi S, Galeotti C, Ambrosetti DC, Melli M : New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B. Hum Mol Genet 2002; 11: 2941\u20132950.","journal-title":"Hum Mol Genet"}],"updated-by":[{"DOI":"10.1038\/sj.ejhg.5201365","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2005,1,20]],"date-time":"2005-01-20T00:00:00Z","timestamp":1106179200000}}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201300.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201300","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201300.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T21:32:34Z","timestamp":1684359154000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201300"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,10,13]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,2,1]]}},"alternative-id":["BF5201300"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201300","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,10,13]]},"assertion":[{"value":"17 June 2004","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 August 2004","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 August 2004","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 October 2004","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}