{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:54:01Z","timestamp":1790891641269,"version":"4.1.0"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[1997,9,1]],"date-time":"1997-09-01T00:00:00Z","timestamp":873072000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Med"],"published-print":{"date-parts":[[1997,9]]},"DOI":"10.1038\/nm0997-1009","type":"journal-article","created":{"date-parts":[[2004,8,19]],"date-time":"2004-08-19T02:14:32Z","timestamp":1092881672000},"page":"1009-1015","source":"Crossref","is-referenced-by-count":78,"title":["Allelic origin of the abnormal prion protein isoform in familial prion diseases"],"prefix":"10.1038","volume":"3","author":[{"given":"Shu G.","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Plero","family":"Parchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabina","family":"Capellari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenquan","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth J.","family":"Cochran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy L.","family":"Vnencak-Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Julien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Vital","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Mikol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elio","family":"Lugaresi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucila","family":"Autilio-Gambetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierluigi","family":"Gambetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFnm09971009_CR1","first-page":"785","volume":"146","author":"SJ DeArmond","year":"1995","unstructured":"DeArmond, S.J. & Prusiner, S.B. Etiology and pathogenesis of prion disease. Am. J. Pathol. 146, 785\u2013811 (1995).","journal-title":"Am. J. Pathol."},{"key":"BFnm09971009_CR2","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1097\/00019052-199508000-00007","volume":"8","author":"P Parchi","year":"1995","unstructured":"Parchi, P. & Gambetti, P. Human prion diseases. Curr. Opin. Neural. 8, 286\u2013293 (1995).","journal-title":"Curr. Opin. Neural."},{"key":"BFnm09971009_CR3","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1126\/science.1439789","volume":"258","author":"LG Goldfarb","year":"1992","unstructured":"Goldfarb, L.G. et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Disease phenotype determined by a DNA polymorphism. Science 258, 806\u2013808 (1992).","journal-title":"Science"},{"key":"BFnm09971009_CR4","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/0092-8674(83)90207-6","volume":"35","author":"MP Mckinley","year":"1983","unstructured":"Mckinley, M.P., Bolton, D.C. & Prusiner, S.B. A protease-resistant protein is a structural component of the scrapie prion. Cell 35, 57\u201362 (1983).","journal-title":"Cell"},{"key":"BFnm09971009_CR5","doi-asserted-by":"publisher","first-page":"2310","DOI":"10.1073\/pnas.83.8.2310","volume":"83","author":"RK Meyer","year":"1986","unstructured":"Meyer, R.K. et al. Separation and properties of Cellular and scrapie prion proteins. Proc. Natl. Acad. Sci. USA 83, 2310\u20132314 (1986).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm09971009_CR6","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1016\/0092-8674(85)90333-2","volume":"40","author":"B Oesch","year":"1985","unstructured":"Oesch, B. et al. A Cellular gene encodes scrapie PrP 27\u201330 protein. Cell 40, 735\u2013746 (1985).","journal-title":"Cell"},{"key":"BFnm09971009_CR7","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/0092-8674(86)90662-8","volume":"46","author":"K Basler","year":"1986","unstructured":"Basler, K. et al. Scrapie and Cellular PrP isoforms are encoded by the same chromosomal gene. Cell 46, 417\u2013428 (1986).","journal-title":"Cell"},{"key":"BFnm09971009_CR8","doi-asserted-by":"publisher","first-page":"1991","DOI":"10.1021\/bi00059a016","volume":"32","author":"N Stahl","year":"1993","unstructured":"Stahl, N. et al. Structural analysis of the scrapie prion protein using mass spectrometry and amino acid sequencing. Biochemistry 32, 1991\u20132002 (1993).","journal-title":"Biochemistry"},{"key":"BFnm09971009_CR9","doi-asserted-by":"publisher","first-page":"7672","DOI":"10.1021\/bi00245a003","volume":"30","author":"BW Caughey","year":"1991","unstructured":"Caughey, B.W. et al. Secondary structure analysis of the scrapie-associated protein PrP 27\u201330 in water by infrared spectroscopy. Biochemistry. 30, 7672\u20137680 (1991).","journal-title":"Biochemistry."},{"key":"BFnm09971009_CR10","doi-asserted-by":"publisher","first-page":"10962","DOI":"10.1073\/pnas.90.23.10962","volume":"90","author":"K-M Pan","year":"1993","unstructured":"Pan, K.-M. et al. Conversion of \u03b1-helices into \u03b2-sheets features in the formation of the scrapie prion proteins. Proc Natl. Acad. Sci. USA 90, 10962\u201310966 (1993).","journal-title":"Proc Natl. Acad. Sci. USA"},{"key":"BFnm09971009_CR11","doi-asserted-by":"crossref","first-page":"20276","DOI":"10.1016\/S0021-9258(20)80725-X","volume":"268","author":"J Safar","year":"1993","unstructured":"Safar, J., Roller, P.P., Gajdusek, D.C. & Gibbs, C.J. Conformational transitions, dissociation, and unfolding of scrapie amyloid (prion) protein. J. Biol. Chem. 268, 20276\u201320284 (1993).","journal-title":"J. Biol. Chem."},{"key":"BFnm09971009_CR12","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1038\/370471a0","volume":"370","author":"DA Kocisko","year":"1994","unstructured":"Kocisko, D.A. et al. Cell-free formation of protease-resistant prion protein. Nature 370, 471\u2013474 (1994).","journal-title":"Nature"},{"key":"BFnm09971009_CR13","doi-asserted-by":"publisher","first-page":"3923","DOI":"10.1073\/pnas.92.9.3923","volume":"92","author":"DA Kocisko","year":"1995","unstructured":"Kocisko, D.A. et al. Species specificity in the Cell-free conversion of prion protein to protease-resistant forms: A model for the scrapie species barrier. Proc. Natl. Acad. Sci. USA 92, 3923\u20133927 (1995).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm09971009_CR14","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1006\/bbrc.1993.1447","volume":"192","author":"T Kitamoto","year":"1993","unstructured":"Kitamoto, T., Lizuka, R. & Tateishi, J. An amber mutation of prion protein in Gerstmann-Straussler syndrome with mutant PrP plaques. Biochem. Biophys. Res. Commun. 192, 525\u2013531 (1993).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFnm09971009_CR15","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1016\/0092-8674(94)90554-1","volume":"79","author":"F Tagliavini","year":"1994","unstructured":"Tagliavini, F. et al. Amyloid fibrils in Gerstmann-Straussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele. Cell 79, 695\u2013703 (1994).","journal-title":"Cell"},{"key":"BFnm09971009_CR16","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1038\/nm0196-59","volume":"2","author":"R Gabizon","year":"1996","unstructured":"Gabizon, R. et al. Insoluble wild-type and protease-resistant mutant prion protein in brains of patients with inherited prion diseases. Nature Med. 2, 59\u201364. (1996).","journal-title":"Nature Med."},{"key":"BFnm09971009_CR17","doi-asserted-by":"publisher","first-page":"1864","DOI":"10.1212\/WNL.42.10.1864","volume":"42","author":"PJ Bosque","year":"1992","unstructured":"Bosque, P.J., Vnencak-Jones, C.L., Johnson, M.D., Whitlock, J.A. & McLean, M.J. A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-lakob disease. Neurology 42, 1864\u20131870 (1992).","journal-title":"Neurology"},{"key":"BFnm09971009_CR18","doi-asserted-by":"publisher","first-page":"1068","DOI":"10.1212\/WNL.45.6.1068","volume":"45","author":"AT Reder","year":"1995","unstructured":"Reder, A.T. et al. Clinical and genetic studies of fatal familial insomnia. Neurology 45, 1068\u20131075 (1995).","journal-title":"Neurology"},{"key":"BFnm09971009_CR19","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1093\/hmg\/2.5.541","volume":"2","author":"MS Palmer","year":"1993","unstructured":"Palmer, M.S. et al. Deletions in the prion protein gene are not associated with CJD. Hum. Mol. Genet. 2, 541\u2013544 (1993).","journal-title":"Hum. Mol. Genet."},{"key":"BFnm09971009_CR20","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/0169-328X(90)90038-F","volume":"7","author":"F Owen","year":"1990","unstructured":"Owen, F. et al. An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. Mol. Brain Res. 7, 273\u2013276 (1990).","journal-title":"Mol. Brain Res."},{"key":"BFnm09971009_CR21","doi-asserted-by":"publisher","first-page":"10926","DOI":"10.1073\/pnas.88.23.10926","volume":"88","author":"LG Goldfarb","year":"1991","unstructured":"Goldfarb, L.G. et al. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc. Natl. Acad. Sci. USA 88, 10926\u201310930 (1991).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm09971009_CR22","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1212\/WNL.49.1.133","volume":"49","author":"S Capellari","year":"1997","unstructured":"Capellari, S. et al. Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family. Neurology 49, 133\u2013141 (1997).","journal-title":"Neurology"},{"key":"BFnm09971009_CR23","doi-asserted-by":"publisher","first-page":"19173","DOI":"10.1074\/jbc.270.32.19173","volume":"270","author":"SG Chen","year":"1995","unstructured":"Chen, S.G. et al. Truncated forms of the human prion protein in normal and in prion diseases. J. Biol. Chem. 270, 19173\u201319180 (1995).","journal-title":"J. Biol. Chem."},{"key":"BFnm09971009_CR24","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/0003-9861(87)90380-8","volume":"258","author":"DC Bolton","year":"1987","unstructured":"Bolton, D.C., Bendheim, P.E., Marmorstein, A.D. & Potempska, A. Isolation and structure studies of the intact scrapie agent protein. Arch. Biochem. Biophys. 258, 579\u2013590 (1987).","journal-title":"Arch. Biochem. Biophys."},{"key":"BFnm09971009_CR25","doi-asserted-by":"publisher","first-page":"2839","DOI":"10.1073\/pnas.91.7.2839","volume":"91","author":"L Monari","year":"1994","unstructured":"Monari, L. et al. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Different prion proteins determined by a DNA polymorphism. Proc. Natl. Acad. Sci. USA, 91, 2839\u20132842 (1994).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFnm09971009_CR26","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1002\/ana.410390613","volume":"39","author":"P Parchi","year":"1996","unstructured":"Parchi, P. et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann. Neural 39, 767\u2013778 (1996).","journal-title":"Ann. Neural"},{"key":"BFnm09971009_CR27","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1038\/386232a0","volume":"386","author":"P Parchi","year":"1997","unstructured":"Parchi, P. et al. Typing prion isoforms. Nature 386, 232\u2013233 (1997).","journal-title":"Nature"},{"key":"BFnm09971009_CR28","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/0014-5793(96)00610-2","volume":"389","author":"C Weissmann","year":"1996","unstructured":"Weissmann, C. Molecular biology of transmissible spongiform encephalopathies. FEBS Let. 389, 3\u201311 (1996).","journal-title":"FEBS Let."},{"key":"BFnm09971009_CR29","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1002\/ana.410380107","volume":"38","author":"P Parchi","year":"1995","unstructured":"Parchi, P. et al. Regional distribution of protease-resistant prion protein in fatal familial insomnia. Ann. Neural. 38, 21\u201329 (1995).","journal-title":"Ann. Neural."},{"key":"BFnm09971009_CR30","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1111\/j.1750-3639.1995.tb00576.x","volume":"5","author":"P Gambetti","year":"1995","unstructured":"Gambetti, P., Parchi, P., Petersen, R.B., Chen, S.G. & Lugaresi, E. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: Clinical, pathological and molecular features. Brain Pathol. 5, 43\u201351 (1995).","journal-title":"Brain Pathol."},{"key":"BFnm09971009_CR31","doi-asserted-by":"publisher","first-page":"12661","DOI":"10.1074\/jbc.271.21.12661","volume":"271","author":"RB Petersen","year":"1996","unstructured":"Petersen, R.B., Parchi, P., Richardson, S.L., Urig, C.B. & Gambetti, P. Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein. J. Biol. Chem. 271, 12661\u201312668 (1996).","journal-title":"J. Biol. Chem."},{"key":"BFnm09971009_CR32","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1016\/S0140-6736(95)91405-6","volume":"346","author":"J Collinge","year":"1995","unstructured":"Collinge, J. et al. Transmission of fatal familial insomnia to laboratory animals. Lancet 346, 569\u2013570 (1995).","journal-title":"Lancet"},{"key":"BFnm09971009_CR33","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/376434a0","volume":"376","author":"J Tateishi","year":"1995","unstructured":"Tateishi, J. et al. First experimental transmission of fatal familial insomnia. Nature 376, 434\u2013435 (1995).","journal-title":"Nature"},{"key":"BFnm09971009_CR34","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1002\/ana.410310309","volume":"31","author":"P Brown","year":"1992","unstructured":"Brown, P. et al. Phenotypic characteristics of familial Creutzfeldt-jakob disease associated with the codon 178Asn PRNP mutation. Ann Neurol. 31, 282\u2013285 (1992).","journal-title":"Ann Neurol."},{"key":"BFnm09971009_CR35","doi-asserted-by":"publisher","first-page":"2079","DOI":"10.1126\/science.274.5295.2079","volume":"274","author":"GC Telling","year":"1996","unstructured":"Telling, G.C. et al. Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity. Science 274, 2079\u20132082 (1996).","journal-title":"Science"},{"key":"BFnm09971009_CR36","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1038\/352340a0","volume":"352","author":"MS Palmer","year":"1991","unstructured":"Palmer, M.S., Dryden, A.J., Hughes, J.T. & Collinge, J. (1991). Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-jakob disease. Nature 352, 340\u2013342 (1991).","journal-title":"Nature"},{"key":"BFnm09971009_CR37","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1212\/WNL.47.3.727","volume":"47","author":"EJ Cochran","year":"1996","unstructured":"Cochran, E.J. et al. Familial Creutzfeldt-jakob disease with a five-repeat octapeptide insert mutation. Neurology 47, 727\u2013733 (1996).","journal-title":"Neurology"},{"key":"BFnm09971009_CR38","doi-asserted-by":"publisher","first-page":"2413","DOI":"10.1001\/jama.1992.03490170085030","volume":"268","author":"JM Bertoni","year":"1992","unstructured":"Bertoni, J.M., Brown, P., Goldfarb, L.G., Rubenstein, R. & Gajdusek, D.C. Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy. JAMA 268, 2413\u20132415 (1992).","journal-title":"JAMA"},{"key":"BFnm09971009_CR39","doi-asserted-by":"publisher","first-page":"1109","DOI":"10.1136\/jnnp.56.10.1109","volume":"56","author":"J Chapman","year":"1993","unstructured":"Chapman, J. et al. Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation. J. Neural. Neurosurg. Psychiatry 56, 1109\u20131112 (1993).","journal-title":"J. Neural. Neurosurg. Psychiatry"},{"key":"BFnm09971009_CR40","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1212\/WNL.46.3.758","volume":"46","author":"J Chapman","year":"1996","unstructured":"Chapman, J. et al. Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200Lys mutation. Neurology 46, 758\u2013761 (1996).","journal-title":"Neurology"},{"key":"BFnm09971009_CR41","doi-asserted-by":"crossref","first-page":"3688","DOI":"10.1128\/JVI.61.12.3688-3693.1987","volume":"61","author":"RJ Kascsak","year":"1987","unstructured":"Kascsak, R.J. et al. Mouse polyclonal and monoclonal antibody to scrapie-associated fibril proteins. J. Virol. 61, 3688\u20133693 (1987).","journal-title":"J. Virol."},{"key":"BFnm09971009_CR42","doi-asserted-by":"publisher","first-page":"1437","DOI":"10.1126\/science.6162199","volume":"211","author":"CR Merrill","year":"1981","unstructured":"Merrill, C.R., Goldman, D., Sedman, S.A. & Ebert, M.H. Ultrasensitive stain for proteins in polyacrylamide gels shows regional variation in cerebrospinal fluid proteins. Science 211, 1437\u20131438 (1981).","journal-title":"Science"},{"key":"BFnm09971009_CR43","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1016\/0003-2697(87)90450-7","volume":"161","author":"EA Bayer","year":"1987","unstructured":"Bayer, E.A., Safars, M. & Wilchek, M. Selective labeling of sulfhydryls and disulfides on blot transfers using avidin-biotin technology: Studies on purified proteins and erythrocyte membranes. Anal. Biochem. 161, 262\u2013271 (1987).","journal-title":"Anal. Biochem."},{"key":"BFnm09971009_CR44","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1016\/0003-2697(87)90587-2","volume":"166","author":"H Schagger","year":"1987","unstructured":"Schagger, H. & von Jagow, G. Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa. Anal. Biochem. 166, 368\u2013379 (1987).","journal-title":"Anal. Biochem."},{"key":"BFnm09971009_CR45","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1002\/ana.410310308","volume":"31","author":"LG Goldfarb","year":"1992","unstructured":"Goldfarb, L.G. et al. Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin. Ann. Neurol. 31, 274\u2013281 (1992).","journal-title":"Ann. Neurol."}],"container-title":["Nature Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nm0997-1009","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nm0997-1009.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nm0997-1009.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T23:35:57Z","timestamp":1684452957000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nm0997-1009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,9]]},"references-count":45,"journal-issue":{"issue":"9","published-print":{"date-parts":[[1997,9]]}},"alternative-id":["BFnm09971009"],"URL":"https:\/\/doi.org\/10.1038\/nm0997-1009","relation":{},"ISSN":["1078-8956","1546-170X"],"issn-type":[{"value":"1078-8956","type":"print"},{"value":"1546-170X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,9]]}}}