{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T12:12:11Z","timestamp":1792671131132,"version":"4.5.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1016\/j.ymgme.2017.12.009","type":"journal-article","created":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T20:22:56Z","timestamp":1513023776000},"page":"309-316","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":59,"title":["Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling"],"prefix":"10.1016","volume":"123","author":[{"given":"Kevin E.","family":"Glinton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Benke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Lines","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael T.","family":"Geraghty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranesh","family":"Chakraborty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osama Y.","family":"Al-Dirbashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam D.","family":"Kennedy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S.","family":"Grotewiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah H.","family":"Elsea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayman W.","family":"El-Hattab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ymgme.2017.12.009_bb0005","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ymgme.2016.04.010","article-title":"Serine biosynthesis and transport defects","volume":"118","author":"El-Hattab","year":"2016","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.ymgme.2017.12.009_bb0010","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s10545-016-9921-5","article-title":"On the phenotypic spectrum of serine biosynthesis defects","volume":"39","author":"El-Hattab","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"10.1016\/j.ymgme.2017.12.009_bb0015","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1016\/j.ajhg.2014.04.015","article-title":"Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH","volume":"94","author":"Shaheen","year":"2014","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ymgme.2017.12.009_bb0020","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.ajhg.2014.07.012","article-title":"Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the l-serine biosynthesis pathway","volume":"95","author":"Acuna-Hidalgo","year":"2014","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ymgme.2017.12.009_bb0025","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s10545-013-9592-4","article-title":"An update on serine deficiency disorders","volume":"36","author":"van der Crabben","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2017.12.009_bb0030","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/s10545-010-9249-5","article-title":"Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency","volume":"34","author":"Tabatabaie","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2017.12.009_bb0035","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1111\/cge.12445","article-title":"Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan","volume":"87","author":"Vincent","year":"2015","journal-title":"Clin. Genet."},{"issue":"4","key":"10.1016\/j.ymgme.2017.12.009_bb0040","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1016\/j.celrep.2014.04.045","article-title":"Serine, but not glycine, supports one-carbon metabolism and proliferation of cancer cells","volume":"7","author":"Labuschagne","year":"2014","journal-title":"Cell Rep."},{"key":"10.1016\/j.ymgme.2017.12.009_bb0045","doi-asserted-by":"crossref","DOI":"10.1038\/cddis.2013.393","article-title":"Contribution ofe serine, folate and glycine metabolism to the ATP, NADPH and purine requirements of cancer cells","volume":"4","author":"Tedeschi","year":"2013","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.ymgme.2017.12.009_bb0050","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1476-4598-7-14","article-title":"Overexpression of phosphoserine aminotransferase PSAT1 stimulates cell growth and increases chemoresistance of colon cancer cells","volume":"7","author":"Vi\u00e9","year":"2008","journal-title":"Mol. Cancer"},{"issue":"2","key":"10.1016\/j.ymgme.2017.12.009_bb0055","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1679\/aohc.66.109","article-title":"Novel neuroglial and glioglial relationships mediated by l-serine metabolism","volume":"66","author":"Furuya","year":"2003","journal-title":"Arch. Histol. Cytol."},{"issue":"6","key":"10.1016\/j.ymgme.2017.12.009_bb0060","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1177\/0883073817690094","article-title":"Infantile Serine biosynthesis defect due to phosphoglycerate dehydrogenase deficiency: variability in phenotype and treatment response, novel mutations, and diagnostic challenges","volume":"32","author":"Benke","year":"2017","journal-title":"J. Child Neurol."},{"issue":"6","key":"10.1016\/j.ymgme.2017.12.009_bb0065","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1007\/s10545-015-9843-7","article-title":"Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism","volume":"38","author":"Miller","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"issue":"16","key":"10.1016\/j.ymgme.2017.12.009_bb0070","doi-asserted-by":"crossref","first-page":"6656","DOI":"10.1021\/ac901536h","article-title":"Integrated, nontargeted ultrahigh performance liquid chromatography\/electrospray ionization tandem mass spectrometry platform for the identification and relative quantification of the small-molecule complement of biological systems","volume":"81","author":"Evans","year":"2009","journal-title":"Anal. Chem."},{"issue":"1","key":"10.1016\/j.ymgme.2017.12.009_bb0075","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1758-2946-2-9","article-title":"Organization of GC\/MS and LC\/MS metabolomics data into chemical libraries","volume":"2","author":"Dehaven","year":"2010","journal-title":"J. Cheminformatics."},{"issue":"2\u20133","key":"10.1016\/j.ymgme.2017.12.009_bb0080","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.ymgme.2015.04.008","article-title":"Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma","volume":"115","author":"Atwal","year":"2015","journal-title":"Mol. Genet. Metab."},{"issue":"9","key":"10.1016\/j.ymgme.2017.12.009_bb0085","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1089\/gtmb.2015.0291","article-title":"Metabolomic profiling of human urine as a screen for multiple inborn errors of metabolism","volume":"20","author":"Kennedy","year":"2016","journal-title":"Genet Test Mol. Biomark."},{"issue":"2","key":"10.1016\/j.ymgme.2017.12.009_bb0090","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.ymgme.2017.04.005","article-title":"Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay","volume":"121","author":"Kennedy","year":"2017","journal-title":"Mol. Genet. Metab."},{"issue":"6","key":"10.1016\/j.ymgme.2017.12.009_bb0095","doi-asserted-by":"crossref","first-page":"1477","DOI":"10.1016\/j.bbamem.2013.10.018","article-title":"Phospholipid methylation in mammals: from biochemistry to physiological function","volume":"1838","author":"Vance","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"issue":"7","key":"10.1016\/j.ymgme.2017.12.009_bb0100","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1194\/jlr.R700020-JLR200","article-title":"Phosphatidylserine and phosphatidylethanolamine in mammalian cells: two metabolically related aminophospholipids","volume":"49","author":"Vance","year":"2008","journal-title":"J. Lipid Res."},{"issue":"9 Pt B","key":"10.1016\/j.ymgme.2017.12.009_bb0105","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1016\/j.bbamem.2017.04.006","article-title":"The critical role of phosphatidylcholine and phosphatidylethanolamine metabolism in health and disease","volume":"1859","author":"van der Veen","year":"2017","journal-title":"Biochim. Biophys. Acta"},{"issue":"5","key":"10.1016\/j.ymgme.2017.12.009_bb0110","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1083\/jcb.201311051","article-title":"Review: biogenesis of the multifunctional lipid droplet: lipids, proteins, and sites","volume":"204","author":"Pol","year":"2014","journal-title":"J. Cell Biol."},{"issue":"14","key":"10.1016\/j.ymgme.2017.12.009_bb0115","doi-asserted-by":"crossref","first-page":"2161","DOI":"10.1091\/mbc.e15-12-0865","article-title":"Specific requirements of nonbilayer phospholipids in mitochondrial respiratory chain function and formation","volume":"27","author":"Baker","year":"2016","journal-title":"Mol. Biol. Cell"},{"issue":"1","key":"10.1016\/j.ymgme.2017.12.009_bb0120","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.ydbio.2005.12.048","article-title":"Molecular mechanisms of axon guidance","volume":"292","author":"Chilton","year":"2006","journal-title":"Dev. Biol."},{"issue":"9","key":"10.1016\/j.ymgme.2017.12.009_bb0125","first-page":"714","article-title":"Role of phosphatidylcholine during neuronal differentiation","volume":"63","author":"Paoletti","year":"2011","journal-title":"IUBMB Life"},{"issue":"33","key":"10.1016\/j.ymgme.2017.12.009_bb0130","doi-asserted-by":"crossref","first-page":"25382","DOI":"10.1074\/jbc.M110.139477","article-title":"Phosphatidylcholine biosynthesis during neuronal differentiation and its role in cell fate determination","volume":"285","author":"Marcucci","year":"2010","journal-title":"J. Biol. Chem."},{"issue":"Suppl. 2","key":"10.1016\/j.ymgme.2017.12.009_bb0135","doi-asserted-by":"crossref","first-page":"S88","DOI":"10.1111\/j.1753-4887.2010.00344.x","article-title":"Nutritional modifiers of aging brain function: use of uridine and other phosphatide precursors to increase formation of brain synapses","volume":"68","author":"Wurtman","year":"2010","journal-title":"Nutr. Rev."},{"issue":"19","key":"10.1016\/j.ymgme.2017.12.009_bb0140","doi-asserted-by":"crossref","first-page":"12888","DOI":"10.1074\/jbc.M800714200","article-title":"Defining the importance of phosphatidylserine synthase-1 (PSS1): unexpected viability of PSS1-deficient mice","volume":"283","author":"Arikketh","year":"2008","journal-title":"J. Biol. Chem."},{"issue":"48","key":"10.1016\/j.ymgme.2017.12.009_bb0145","doi-asserted-by":"crossref","first-page":"40032","DOI":"10.1074\/jbc.M506510200","article-title":"Disruption of the phosphatidylserine decarboxylase gene in mice causes embryonic lethality and mitochondrial defects","volume":"280","author":"Steenbergen","year":"2005","journal-title":"J. Biol. Chem."},{"issue":"2","key":"10.1016\/j.ymgme.2017.12.009_bb0150","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1074\/jbc.M109.017137","article-title":"Dietary docosahexaenoic acid supplementation modulates hippocampal development in the Pemt\u2212\/\u2212 mouse","volume":"285","author":"da Costa","year":"2010","journal-title":"J. Biol. Chem."},{"issue":"2","key":"10.1016\/j.ymgme.2017.12.009_bb0155","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1017\/S031716710001653X","article-title":"D-serine in neurobiology: CNS neurotransmission and neuromodulation","volume":"41","author":"Bardaweel","year":"2014","journal-title":"J. Can. Sci. Neurol."},{"issue":"6","key":"10.1016\/j.ymgme.2017.12.009_bb0160","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1055\/s-2000-12944","article-title":"Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency","volume":"31","author":"de Koning","year":"2000","journal-title":"Neuropediatrics"},{"issue":"2","key":"10.1016\/j.ymgme.2017.12.009_bb0165","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1023\/A:1015624726822","article-title":"Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids","volume":"25","author":"De Koning","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"issue":"9452","key":"10.1016\/j.ymgme.2017.12.009_bb0170","doi-asserted-by":"crossref","first-page":"2221","DOI":"10.1016\/S0140-6736(04)17596-X","article-title":"Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency","volume":"364","author":"de Koning","year":"2004","journal-title":"Lancet Lond. Engl."},{"issue":"5","key":"10.1016\/j.ymgme.2017.12.009_bb0175","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1086\/517888","article-title":"Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway","volume":"80","author":"Hart","year":"2007","journal-title":"Am. J. Hum. Genet."},{"issue":"17","key":"10.1016\/j.ymgme.2017.12.009_bb0180","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1212\/WNL.0b013e3182345896","article-title":"Evidence report: genetic and metabolic testing on children with global developmental delay: report of the quality standards Subcommittee of the American Academy of neurology and the practice Committee of the Child Neurology Society","volume":"77","author":"Michelson","year":"2011","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.ymgme.2017.12.009_bb0185","doi-asserted-by":"crossref","first-page":"e903","DOI":"10.1542\/peds.2014-1839","article-title":"Committee on genetics. Comprehensive evaluation of the child with intellectual disability or global developmental delays","volume":"134","author":"Moeschler","year":"2014","journal-title":"Pediatrics"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217306546?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217306546?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,8,25]],"date-time":"2018-08-25T05:29:53Z","timestamp":1535174993000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217306546"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3]]},"references-count":37,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["S1096719217306546"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.12.009","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2018,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.12.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}