{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T21:21:35Z","timestamp":1772227295467,"version":"3.50.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2014,5,22]],"date-time":"2014-05-22T00:00:00Z","timestamp":1400716800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2014,5,22]],"date-time":"2014-05-22T00:00:00Z","timestamp":1400716800000},"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":["J Hum Genet"],"published-print":{"date-parts":[[2014,7]]},"DOI":"10.1038\/jhg.2014.39","type":"journal-article","created":{"date-parts":[[2014,5,22]],"date-time":"2014-05-22T06:27:51Z","timestamp":1400740071000},"page":"387-392","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation"],"prefix":"10.1038","volume":"59","author":[{"given":"Masafumi","family":"Noguchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Honsho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichi","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryusuke","family":"Toyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajime","family":"Niwa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiteru","family":"Sato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamran","family":"Ghaedi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Rahmanifar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yousef","family":"Shafeghati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukio","family":"Fujiki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,5,22]]},"reference":[{"key":"BFjhg201439_CR1","doi-asserted-by":"publisher","first-page":"1442","DOI":"10.1016\/j.bbadis.2012.05.008","volume":"1822","author":"NE Braverman","year":"2012","unstructured":"Braverman, N. E. & Moser, A. B. Functions of plasmalogen lipids in health and disease. Biochim. Biophys. Acta 1822, 1442\u20131452 (2012).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFjhg201439_CR2","doi-asserted-by":"publisher","first-page":"1812","DOI":"10.1002\/ajmg.a.33489","volume":"152","author":"G Nimmo","year":"2010","unstructured":"Nimmo, G., Monsonego, S., Descartes, M., Franklin, J., Steinberg, S. & Braverman, N. Rhizomelic chondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Am. J. Med. Genet. 152, 1812\u20131817 (2010).","journal-title":"Am. J. Med. Genet."},{"key":"BFjhg201439_CR3","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1016\/S0163-7827(01)00003-0","volume":"40","author":"N Nagan","year":"2001","unstructured":"Nagan, N. & Zoeller, R. A. Plasmalogens: biosynthesis and functions. Prog. Lipid Res. 40, 199\u2013229 (2001).","journal-title":"Prog. Lipid Res."},{"key":"BFjhg201439_CR4","doi-asserted-by":"crossref","first-page":"8835","DOI":"10.1016\/S0021-9258(18)34205-4","volume":"257","author":"AJ Brown","year":"1982","unstructured":"Brown, A. J. & Snyder, F. Alkyldihydroxyacetone-P synthase. Solubilization, partial purification, new assay method, and evidence for a ping-pong mechanism. J. Biol. Chem. 257, 8835\u20138839 (1982).","journal-title":"J. Biol. Chem."},{"key":"BFjhg201439_CR5","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1016\/j.str.2007.04.009","volume":"15","author":"A Razeto","year":"2007","unstructured":"Razeto, A., Mattiroli, F., Carpanelli, E., Aliverti, A., Pandini, V., Coda, A. et al. The crucial step in ether phospholipid biosynthesis: structural basis of noncanonical reaction associated with a peroxisomal disorder. Structure 15, 683\u2013692 (2007).","journal-title":"Structure"},{"key":"BFjhg201439_CR6","doi-asserted-by":"publisher","first-page":"18791","DOI":"10.1073\/pnas.1215128109","volume":"109","author":"S Nenci","year":"2012","unstructured":"Nenci, S., Piano, V., Rosati, S., Aliverti, A., Pandini, V., Fraaije, M. W. et al. Precursor of ether phospholipids is synthesized by a flavoenzyme through covalent catalysis. Proc. Natl Acad. Sci. USA 109, 18791\u201318796 (2012).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFjhg201439_CR7","doi-asserted-by":"crossref","first-page":"11590","DOI":"10.1016\/S0021-9258(18)38000-1","volume":"263","author":"RA Zoeller","year":"1988","unstructured":"Zoeller, R. A., Morand, O. H. & Raetz, C. R. H. A possible role for plasmalogens in protecting animal cells against photosensitized killing. J. Biol. Chem. 263, 11590\u201311596 (1988).","journal-title":"J. Biol. Chem."},{"key":"BFjhg201439_CR8","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/350077a0","volume":"350","author":"T Tsukamoto","year":"1991","unstructured":"Tsukamoto, T., Miura, S. & Fujiki, Y. Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant. Nature 350, 77\u201381 (1991).","journal-title":"Nature"},{"key":"BFjhg201439_CR9","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1194\/jlr.M200363-JLR200","volume":"44","author":"NJ Munn","year":"2003","unstructured":"Munn, N. J., Arnio, E., Liu, D., Zoeller, R. A. & Liscum, L. Deficiency in ethanolamine plasmalogen leads to altered cholesterol transport. J. Lipid Res. 44, 182\u2013192 (2003).","journal-title":"J. Lipid Res."},{"key":"BFjhg201439_CR10","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.bbalip.2003.12.010","volume":"1636","author":"P Brites","year":"2004","unstructured":"Brites, P., Waterham, H. R. & Wanders, R. J. A. Functions and biosynthesis of plasmalogens in health and disease. Biochim. Biophys. Acta 1636, 219\u2013231 (2004).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFjhg201439_CR11","doi-asserted-by":"publisher","first-page":"1881","DOI":"10.1093\/hmg\/ddg191","volume":"12","author":"C Rodemer","year":"2003","unstructured":"Rodemer, C., Thai, T. P., Brugger, B., Kaercher, T., Werner, H., Nave, K. A. et al. Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. Hum. Mol. Genet. 12, 1881\u20131895 (2003).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201439_CR12","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1002\/humu.21623","volume":"33","author":"B Itzkovitz","year":"2012","unstructured":"Itzkovitz, B., Jiralerspong, S., Nimmo, G., Loscalzo, M., Horovitz, D. D. G., Snowden, A. et al. Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctate (RCDP) types 2 and 3. Hum. Mutat. 33, 189\u2013197 (2012).","journal-title":"Hum. Mutat."},{"key":"BFjhg201439_CR13","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1093\/hmg\/10.2.127","volume":"10","author":"TP Thai","year":"2001","unstructured":"Thai, T. P., Rodemer, C., Jauch, A., Hunziker, A., Moser, A., Gorgas, K. et al. Impaired membrane traffic in defective ether lipid biosynthesis. Hum. Mol. Genet. 10, 127\u2013136 (2001).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201439_CR14","doi-asserted-by":"crossref","first-page":"1998","DOI":"10.1016\/S0022-2275(20)32423-8","volume":"40","author":"ECJM de Vet","year":"1999","unstructured":"de Vet, E.C.J.M., Ijlst, L., Oostheim, W., Dekker, C., Moser, H. W., van Den Bosch, H. et al. Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. J. Lipid Res. 40, 1998\u20132003 (1999).","journal-title":"J. Lipid Res."},{"key":"BFjhg201439_CR15","first-page":"1210","volume":"59","author":"S Fukuda","year":"1996","unstructured":"Fukuda, S., Shimozawa, N., Suzuki, Y., Zhang, Z., Tomatsu, S., Tsukamoto, T. et al. Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. Am. J. Hum. Genet. 59, 1210\u20131220 (1996).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201439_CR16","doi-asserted-by":"publisher","first-page":"4324","DOI":"10.1128\/MCB.18.7.4324","volume":"18","author":"K Okumoto","year":"1998","unstructured":"Okumoto, K., Shimozawa, N., Kawai, A., Tamura, S., Tsukamoto, T., Osumi, T. et al. PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of Pex12p. Mol. Cell. Biol. 18, 4324\u20134336 (1998).","journal-title":"Mol. Cell. Biol."},{"key":"BFjhg201439_CR17","doi-asserted-by":"publisher","first-page":"12593","DOI":"10.1074\/jbc.274.18.12593","volume":"274","author":"N Shimizu","year":"1999","unstructured":"Shimizu, N., Itoh, R., Hirono, Y., Otera, H., Ghaedi, K., Tateishi, K. et al. The peroxin Pex14p: cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis. J. Biol. Chem. 274, 12593\u201312604 (1999).","journal-title":"J. Biol. Chem."},{"key":"BFjhg201439_CR18","doi-asserted-by":"publisher","first-page":"1857","DOI":"10.1016\/j.bbamcr.2008.05.018","volume":"1783","author":"M Honsho","year":"2008","unstructured":"Honsho, M., Yagita, Y., Kinoshita, N. & Fujiki, Y. Isolation and characterization of mutant animal cell line defective in alkyl-dihydroxyacetonephosphate synthase: localization and transport of plasmalogens to post-Golgi compartments. Biochim. Biophys. Acta 1783, 1857\u20131865 (2008).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFjhg201439_CR19","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1042\/bj3320273","volume":"332","author":"N Nagan","year":"1998","unstructured":"Nagan, N., Hajra, A. K., Larkins, L. K., Lazarow, P., Purdue, P. E., Rizzo, W. B. et al. Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step selection protocol. Biochem. J. 332, 273\u2013279 (1998).","journal-title":"Biochem. J."},{"key":"BFjhg201439_CR20","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1139\/y59-099","volume":"37","author":"EG Bligh","year":"1959","unstructured":"Bligh, E. G. & Dyer, W. J. A rapid method of total lipid extraction and purification. Can. J. Biochem. Physiol. 37, 911\u2013917 (1959).","journal-title":"Can. J. Biochem. Physiol."},{"key":"BFjhg201439_CR21","doi-asserted-by":"publisher","first-page":"2126","DOI":"10.1107\/S0907444904019158","volume":"60","author":"P Emsley","year":"2004","unstructured":"Emsley, P. & Cowtan, K. Coot: model-building tools for molecular graphics. Acta Crystallogr. D 60, 2126\u20132132 (2004).","journal-title":"Acta Crystallogr. D"},{"key":"BFjhg201439_CR22","doi-asserted-by":"publisher","first-page":"1969","DOI":"10.1007\/PL00000831","volume":"58","author":"S Chatterjee","year":"2001","unstructured":"Chatterjee, S. & Mayor, S. The GPI-anchor and protein sorting. Cell. Mol. Life Sci. 58, 1969\u20131987 (2001).","journal-title":"Cell. Mol. Life Sci."},{"key":"BFjhg201439_CR23","doi-asserted-by":"publisher","first-page":"17711","DOI":"10.1073\/pnas.0904762106","volume":"106","author":"N Kanzawa","year":"2009","unstructured":"Kanzawa, N., Maeda, Y., Ogiso, H., Murakami, Y., Taguchi, R. & Kinoshita, T. Peroxisome dependency of alkyl-containing GPI-anchor biosynthesis in the endoplasmic reticulum. Proc. Natl Acad. Sci. USA 106, 17711\u201317716 (2009).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFjhg201439_CR24","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1194\/jlr.M021204","volume":"53","author":"N Kanzawa","year":"2012","unstructured":"Kanzawa, N., Shimozawa, N., Wanders, R. J. A., Ikeda, K., Murakami, Y., Waterham, H. R. et al. Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. J. Lipid Res. 53, 653\u2013663 (2012).","journal-title":"J. Lipid Res."}],"updated-by":[{"DOI":"10.1038\/jhg.2014.47","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2014,7,25]],"date-time":"2014-07-25T00:00:00Z","timestamp":1406246400000}}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg201439.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201439","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201439.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:32:51Z","timestamp":1684431171000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201439"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,22]]},"references-count":24,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["BFjhg201439"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2014.39","relation":{"erratum":[{"id-type":"doi","id":"10.1038\/jhg.2014.47","asserted-by":"object"}]},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,22]]},"assertion":[{"value":"7 September 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 April 2014","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 April 2014","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 May 2014","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 July 2014","order":5,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":6,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This article has been corrected since Advance Online Publication, and an erratum is also printed in this issue.","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}