{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:23:53Z","timestamp":1791289433195,"version":"4.3.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":1721,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2008,11]]},"DOI":"10.1016\/j.ajhg.2008.10.010","type":"journal-article","created":{"date-parts":[[2008,11,11]],"date-time":"2008-11-11T06:29:56Z","timestamp":1226384996000},"page":"643-648","source":"Crossref","is-referenced-by-count":204,"title":["Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia"],"prefix":"10.1016","volume":"83","author":[{"given":"Simon","family":"Edvardson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Hama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avraham","family":"Shaag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John Moshe","family":"Gomori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itai","family":"Berger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dov","family":"Soffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley H.","family":"Korman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilana","family":"Taustein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Saada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Elpeleg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2008.10.010_bib1","series-title":"Basic Neurochemistry. Molecular, Cellular and Medical Aspects","first-page":"69","article-title":"Myelin Formation, Structure and Biochemistry","author":"Morell","year":"1999"},{"key":"10.1016\/j.ajhg.2008.10.010_bib2","series-title":"Neuroglia","first-page":"253","article-title":"Molecular biology of myelination","author":"Campagnoni","year":"2004"},{"key":"10.1016\/j.ajhg.2008.10.010_bib3","series-title":"Myelin","first-page":"147","article-title":"Isolation and characterization of myelin","author":"Norton","year":"1984"},{"key":"10.1016\/j.ajhg.2008.10.010_bib4","first-page":"73","article-title":"Morphological features of myelin formation","volume":"14","author":"Webster","year":"1980"},{"key":"10.1016\/j.ajhg.2008.10.010_bib5","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1086\/521227","article-title":"Deleterious mutation in the mitochondrial arginyl-tRNA synthetase gene is associated with ponto-cerebellar hypoplasia","volume":"81","author":"Edvardson","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.010_bib6","doi-asserted-by":"crossref","first-page":"48562","DOI":"10.1074\/jbc.M406649200","article-title":"The human FA2H gene encodes a fatty acid 2-hydroxylase","volume":"279","author":"Alderson","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2008.10.010_bib7","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1042\/BJ20041451","article-title":"Mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin","volume":"388","author":"Eckhardt","year":"2005","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2008.10.010_bib8","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/0378-1119(89)90358-2","article-title":"Site-directed mutagenesis by overlap extension using the polymerase chain reaction","volume":"77","author":"Ho","year":"1989","journal-title":"Gene"},{"key":"10.1016\/j.ajhg.2008.10.010_bib9","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1194\/jlr.D500013-JLR200","article-title":"A novel method for the measurement of in\u00a0vitro fatty acid 2-hydroxylase activity by gas chromatography-mass spectrometry","volume":"46","author":"Alderson","year":"2005","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.ajhg.2008.10.010_bib10","doi-asserted-by":"crossref","first-page":"2772","DOI":"10.1194\/jlr.M600362-JLR200","article-title":"FA2H-dependent fatty acid 2-hydroxylation in postnatal mouse brain","volume":"47","author":"Alderson","year":"2006","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ajhg.2008.10.010_bib11","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/s11745-000-533-y","article-title":"Fatty acid-specific, regiospecific, and stereospecific hydroxylation by cytochrome P450 (CYP152B1) from Sphingomonas paucimobilis: Substrate structure required for alpha-hydroxylation","volume":"35","author":"Matsunaga","year":"2000","journal-title":"Lipids"},{"key":"10.1016\/j.ajhg.2008.10.010_bib12","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1016\/S0022-2275(20)32411-1","article-title":"Phytanoyl-CoA hydroxylase: Recognition of 3-methyl-branched acyl-CoAs and requirement for GTP or ATP and Mg2+ in addition to its known hydroxylation cofactors","volume":"41","author":"Croes","year":"2000","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ajhg.2008.10.010_bib13","doi-asserted-by":"crossref","first-page":"13211","DOI":"10.1074\/jbc.M611562200","article-title":"Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation","volume":"282","author":"Uchida","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2008.10.010_bib14","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1007\/BF00968708","article-title":"Myelination in the developing human brain: biochemical correlates","volume":"19","author":"Kinney","year":"1994","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.ajhg.2008.10.010_bib15","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1111\/j.1471-4159.1973.tb06017.x","article-title":"Characterization of brain cerebrosides at early stages of development in the rat","volume":"21","author":"Hoshi","year":"1973","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ajhg.2008.10.010_bib16","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/S0022-2275(20)39095-7","article-title":"Isolation and determination methods for brain cerebrosides, hydroxy fatty acids, and unsaturated and saturated fatty acids","volume":"1","author":"Kishimoto","year":"1959","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ajhg.2008.10.010_bib17","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/0005-2736(88)90134-4","article-title":"Influence of structural modifications on the phase behavior of semi-synthetic cerebroside sulfate","volume":"938","author":"Boggs","year":"1988","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2008.10.010_bib18","doi-asserted-by":"crossref","first-page":"1750","DOI":"10.1093\/hmg\/ddn066","article-title":"Toxic effects of X- linked adrenoleukodystrophy (X-ALD)-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture","volume":"17","author":"Hein","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2008.10.010_bib19","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1126\/science.6719111","article-title":"Progressive accumulation of toxic metabolite in a genetic leukodystrophy","volume":"224","author":"Igisu","year":"1984","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2008.10.010_bib20","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/ng0394-257","article-title":"X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus","volume":"6","author":"Saugier-Veber","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2008.10.010_bib21","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.conb.2007.08.003","article-title":"Wrapping it up: The cell biology of myelination","volume":"17","author":"Simons","year":"2007","journal-title":"Curr. Opin. Neurobiol."},{"key":"10.1016\/j.ajhg.2008.10.010_bib22","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.ajhg.2008.05.016","article-title":"Mitochondrial Hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy","volume":"83","author":"Magen","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2008.10.010_bib23","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1097\/WCO.0b013e3282f190ba","article-title":"Hereditary spastic paraplegias: an update","volume":"20","author":"Depienne","year":"2007","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.ajhg.2008.10.010_bib24","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1212\/01.wnl.0000319610.29522.8a","article-title":"A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23","volume":"71","author":"Dick","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2008.10.010_bib25","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/BF02531931","article-title":"Alpha-oxidation of 2-hydroxy tetracosanoate in the rat","volume":"4","author":"Lippel","year":"1969","journal-title":"Lipids"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929708005454?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929708005454?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T10:50:03Z","timestamp":1632135003000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929708005454"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,11]]}},"alternative-id":["S0002929708005454"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2008.10.010","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2008,11]]}}}