{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:36:18Z","timestamp":1790501778466,"version":"4.1.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1997,12,1]],"date-time":"1997-12-01T00:00:00Z","timestamp":880934400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1997,12]]},"DOI":"10.1038\/ng1297-449","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:35:28Z","timestamp":1092861328000},"page":"449-452","source":"Crossref","is-referenced-by-count":119,"title":["Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders"],"prefix":"10.1038","volume":"17","author":[{"given":"Herma","family":"Portsteffen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Beyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"Epplen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Pawlak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolf-H","family":"Kunau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Dodt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng1297449_CR1","first-page":"2287","volume-title":"The Metabolic and Molecular Bases of Inherited Disease, Vol. 2","author":"PB Lazarow","year":"1995","unstructured":"Lazarow, P.B. & Moser, H.W. Disorders of peroxisome biogenesis.in The Metabolic and Molecular Bases of Inherited Disease, Vol. 2 (eds Scriver, C, Beaudet, A., Sly, W. & Valle, D.) 2287\u20132324 (McGraw-Hill, New York, 1995)."},{"key":"BFng1297449_CR2","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/S0022-3476(95)70250-4","volume":"127","author":"AB Moser","year":"1995","unstructured":"Moser, A.B. et al. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J. Pediatr. 127, 13\u201322 (1995).","journal-title":"J. Pediatr."},{"key":"BFng1297449_CR3","first-page":"1710","volume":"81","author":"S Brul","year":"1988","unstructured":"Brul, S. et al. Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions: a study using complementation analysis. J. Gin. Invest. 81, 1710\u20131715 (1988).","journal-title":"J. Gin. Invest."},{"key":"BFng1297449_CR4","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1203\/00006450-198907000-00019","volume":"26","author":"AA Roscher","year":"1989","unstructured":"Roscher, A.A. et al. Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis: a complementation study involving cell lines from 19 patients. Pediatr. Res. 26, 67\u201372 (1989).","journal-title":"Pediatr. Res."},{"key":"BFng1297449_CR5","first-page":"843","volume":"52","author":"N Shimozawa","year":"1993","unstructured":"Shimozawa, N. et al. Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. Am. J. Hum. Genet. 52, 843\u2013844 (1993).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng1297449_CR6","doi-asserted-by":"publisher","first-page":"596","DOI":"10.1016\/S0022-3476(95)70121-4","volume":"127","author":"A Poulos","year":"1995","unstructured":"Poulos, A. et al. Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group. J. Pediatr. 127, 596\u2013599 (1995).","journal-title":"J. Pediatr."},{"key":"BFng1297449_CR7","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1016\/0300-9084(93)90079-8","volume":"75","author":"W-H Kunau","year":"1993","unstructured":"Kunau, W.-H. et al.Two complementary approaches to study peroxisome biogenesis in Saccharomyces cerevisiae: forward and reversed genetics. Biochimie 75, 209\u2013224 (1993).","journal-title":"Biochimie"},{"key":"BFng1297449_CR8","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1016\/0092-8674(91)90234-P","volume":"64","author":"R Erdmann","year":"1991","unstructured":"Erdmann, R. et al. PAS1, a yeast gene required for peroxisome biogenesis, encodes a member of a novel family of putative ATPases. Cell 64, 499\u2013510 (1991).","journal-title":"Cell"},{"key":"BFng1297449_CR9","doi-asserted-by":"publisher","first-page":"1259","DOI":"10.1083\/jcb.127.5.1259","volume":"127","author":"JA Heyman","year":"1994","unstructured":"Heyman, J.A., Monosov, E. & Subramani, S. Role of the PAS1 gene of Pichia pastoris in peroxisome biogenesis. J. Cell Biol. 127, 1259\u20131273 (1994).","journal-title":"J. Cell Biol."},{"key":"BFng1297449_CR10","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1002\/bies.950170710","volume":"17","author":"F Confalonieri","year":"1995","unstructured":"Confalonieri, F. & Duguet, M. A 200-amino acid ATPase module in search of a basic function. Bioessays 17, 639\u2013650 (1995).","journal-title":"Bioessays"},{"key":"BFng1297449_CR11","doi-asserted-by":"publisher","first-page":"2043","DOI":"10.1002\/pro.5560061001","volume":"6","author":"A Beyer","year":"1997","unstructured":"Beyer, A. Sequence analysis of the AAA protein family. Protein Sci. 6, 2043\u20132058 (1997).","journal-title":"Protein Sci."},{"key":"BFng1297449_CR12","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/S0022-2836(05)80360-2","volume":"215","author":"SF Altschul","year":"1990","unstructured":"Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403\u2013410 (1990).","journal-title":"J. Mol. Biol."},{"key":"BFng1297449_CR13","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1016\/0092-8674(86)90762-2","volume":"44","author":"M Kozak","year":"1986","unstructured":"Kozak, M. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44, 283\u2013292 (1986).","journal-title":"Cell"},{"key":"BFng1297449_CR14","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1242\/jcs.108.5.1817","volume":"108","author":"ML Slawecki","year":"1995","unstructured":"Slawecki, M.L. et al Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders. J. Cell Sci. 108, 1817\u20131829 (1995).","journal-title":"J. Cell Sci."},{"key":"BFng1297449_CR15","doi-asserted-by":"publisher","first-page":"2914","DOI":"10.1002\/j.1460-2075.1996.tb00654.x","volume":"15","author":"T Yahraus","year":"1996","unstructured":"Yahraus, T. et al. The peroxisome biogenesis disorder group 4 gene, PXAAA1 encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. EMBO J. 15, 2914\u20132923 (1996).","journal-title":"EMBO J."},{"key":"BFng1297449_CR16","doi-asserted-by":"publisher","first-page":"1763","DOI":"10.1083\/jcb.135.6.1763","volume":"135","author":"G Dodt","year":"1996","unstructured":"Dodt, G. & Gould, S.J. Multiple PEX genes are required for proper subcellular distribution and stability of PexSp, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor. J. Cell Biol. 135, 1763\u20131774 (1996).","journal-title":"J. Cell Biol."},{"key":"BFng1297449_CR17","doi-asserted-by":"publisher","first-page":"8287","DOI":"10.1073\/pnas.87.21.8287","volume":"87","author":"L Weinstein","year":"1990","unstructured":"Weinstein, L. et al. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc. Natl. Acad. Sci. USA. 87, 8287\u20138290 (1990).","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"BFng1297449_CR18","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1038\/ng0492-16","volume":"1","author":"J G\u00e4rtner","year":"1992","unstructured":"G\u00e4rtner, J., Moser, H. & Valle, D. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nature Genet. 1, 16\u201323 (1992).","journal-title":"Nature Genet."},{"key":"BFng1297449_CR19","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1007\/BF00711820","volume":"17","author":"J G\u00e4rtner","year":"1994","unstructured":"G\u00e4rtner, J., Obie, C., Watkins, P. & Valle, D. Restoration of peroxisome biogenesis in a peroxisome-deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins. J. Inher. Metab. Dis. 17, 327\u2013329 (1994).","journal-title":"J. Inher. Metab. Dis."},{"key":"BFng1297449_CR20","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1038\/ng0295-115","volume":"9","author":"G Dodt","year":"1995","unstructured":"Dodt, G. et al.Mutations in the PTS1 receptor gene, PXR1,define complementation group 2 of the peroxisome biogenesis disorders. Nature Genet. 9, 115\u2013125 (1995).","journal-title":"Nature Genet."},{"issue":"4","key":"BFng1297449_CR21","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1038\/ng0497-369","volume":"15","author":"Nancy Braverman","year":"1997","unstructured":"Braverman, N. et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genet. 369\u2013376 (1997).","journal-title":"Nature Genetics"},{"key":"BFng1297449_CR22","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1002\/ana.410070607","volume":"7","author":"HW Moser","year":"1980","unstructured":"Moser, H.W. et al. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann. Neurol. 7, 542\u2013549 (1980).","journal-title":"Ann. Neurol."},{"key":"BFng1297449_CR23","doi-asserted-by":"publisher","first-page":"3255","DOI":"10.1002\/j.1460-2075.1991.tb04889.x","volume":"10","author":"BW Swinkels","year":"1991","unstructured":"Swinkels, B.W., Gould, S.J., Bodnar, A.G., Rachubinski, R.A. & Subramani, S. A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoAthiolase. EMBO J. 10, 3255\u20133262 (1991).","journal-title":"EMBO J."},{"key":"BFng1297449_CR24","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1038\/ng0497-385","volume":"15","author":"C-C Chang","year":"1997","unstructured":"Chang, C.-C., Lee, W.-H., Moser, H., Valle, D. & Gould, S.J. Isolation of the human PEX12 gene, mutated in group3 of the peroxisome biogenesis disorders. Nature Genet. 15, 385\u2013388 (1997).","journal-title":"Nature Genet."},{"key":"BFng1297449_CR25","doi-asserted-by":"publisher","first-page":"2923","DOI":"10.1083\/jcb.105.6.2923","volume":"105","author":"SJ Gould","year":"1987","unstructured":"Gould, S.J., Keller, G.-A. & Subramani, S. Identification of a peroxisomal targeting signal at the carboxy terminus of firefly luciferase. J. Cell Biol. 105, 2923\u20132931 (1987).","journal-title":"J. Cell Biol."},{"key":"BFng1297449_CR26","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller, S.A., Dykes, D.D. & Polesky, H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 1215 (1988).","journal-title":"Nucleic Acids Res."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1297-449","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1297-449.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1297-449.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T22:03:52Z","timestamp":1684447432000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1297-449"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,12]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1997,12]]}},"alternative-id":["BFng1297449"],"URL":"https:\/\/doi.org\/10.1038\/ng1297-449","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,12]]}}}