{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:21:41Z","timestamp":1787498501978,"version":"build-2736575974"},"reference-count":54,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2015,3,12]],"date-time":"2015-03-12T00:00:00Z","timestamp":1426118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0119540","type":"journal-article","created":{"date-parts":[[2015,3,12]],"date-time":"2015-03-12T13:51:12Z","timestamp":1426168272000},"page":"e0119540","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":60,"title":["A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair"],"prefix":"10.1371","volume":"10","author":[{"given":"Rim","family":"Rzem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Younes","family":"Achouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Marbaix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Schakman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Wiame","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Marie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Gailly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Fran\u00e7oise","family":"Vincent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Veiga-da-Cunha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emile","family":"Van Schaftingen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2015,3,12]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/BF02312543","article-title":"L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?","volume":"3","author":"M Duran","year":"1980","journal-title":"J Inherit Metab Dis"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1007\/BF01799264","article-title":"L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death","volume":"19","author":"E Chen","year":"1996","journal-title":"J Inherit Metab Dis"},{"key":"ref3","first-page":"1","article-title":"L-2-hydroxyglutaric aciduria: a report of 29 patients","volume":"47","author":"M Top\u00e7u","year":"2005","journal-title":"Turk J Pediatr"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1007\/s10545-012-9462-5","article-title":"Progress in understanding 2-hydroxyglutaric acidurias","volume":"35","author":"M Kranendijk","year":"2012","journal-title":"J Inherit Metab Dis"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"16849","DOI":"10.1073\/pnas.0404840101","article-title":"A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria","volume":"101","author":"R Rzem","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"2803","DOI":"10.1093\/hmg\/ddh300","article-title":"L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1","volume":"13","author":"M Top\u00e7u","year":"2004","journal-title":"Hum Mol Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.biochi.2005.06.005","article-title":"The gene mutated in L-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase","volume":"88","author":"R Rzem","year":"2006","journal-title":"Biochimie"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s10545-007-0487-0","article-title":"L-2-hydroxyglutaric aciduria, a defect of metabolite repair","volume":"30","author":"R Rzem","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"86","DOI":"10.2164\/jandrol.109.008367","article-title":"LDHC: the ultimate testis-specific gene","volume":"31","author":"E Goldberg","year":"2010","journal-title":"J Androl"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"2080","DOI":"10.1042\/bj0312080","article-title":"The oxidation of L(-)\u03b1-hydroxyglutaric acid in animal tissues","volume":"31","author":"H Weil-Malherbe","year":"1937","journal-title":"Biochem J"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/nchembio.1141","article-title":"Metabolite damage and its repair or pre-emption","volume":"9","author":"CL Linster","year":"2013","journal-title":"Nat Chem Biol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/s10545-012-9571-1","article-title":"Metabolite proofreading, a neglected aspect of intermediary metabolism","volume":"36","author":"E Van Schaftingen","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/gene.20012","article-title":"A reliable lacZ expression reporter cassette for multipurpose, knockout-first alleles","volume":"38","author":"G Testa","year":"2004","journal-title":"Genesis"},{"key":"ref14","first-page":"153","article-title":"Guide to Techniques in Mouse Development: Methods in Enzymology","author":"JA Lawitts","year":"1993"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/j.clinbiochem.2007.02.005","article-title":"Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry","volume":"40","author":"A Chabli","year":"2007","journal-title":"Clin Biochem"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.jneumeth.2009.07.019","article-title":"Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS\/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures","volume":"184","author":"K Sadilkova","year":"2009","journal-title":"J Neurosci Methods"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1042\/BJ20031933","article-title":"Identification of a dehydrogenase acting on D-2-hydroxyglutarate","volume":"381","author":"Y Achouri","year":"2004","journal-title":"Biochem J"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"21511","DOI":"10.1074\/jbc.M111.238774","article-title":"A novel GDP-D-glucose phosphorylase involved in quality control of the nucleoside diphosphate sugar pool in Caenorhabditis elegans and mammals","volume":"286","author":"LN Adler","year":"2011","journal-title":"J Biol Chem"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1042\/BJ20130841","article-title":"Identification of TP53-induced glycolysis and apoptosis regulator (TIGAR) as the phosphoglycolate-independent 2,3-bisphosphoglycerate phosphatase","volume":"458","author":"I Gerin","year":"2014","journal-title":"Biochem J"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1681\/ASN.2013060598","article-title":"Time-Course of Pathogenic and Adaptation Mechanisms in Cystinotic Mouse Kidneys","volume":"25","author":"Chevronnay HP Gaide","year":"2014","journal-title":"J Am Soc Nephrol"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1007\/s003359900551","article-title":"Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment","volume":"8","author":"DC Rogers","year":"1997","journal-title":"Mamm Genome"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/mrm.24245","article-title":"Hexafluorobenzene in comparison with perfluoro-15-crown-5-ether for repeated monitoring of oxygenation using (19)F MRI in a mouse model","volume":"69","author":"L Mignion","year":"2013","journal-title":"Magn Reson Med"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.mcn.2013.05.001","article-title":"The Onecut transcription factor HNF-6 contributes to proper reorganization of Purkinje cells during postnatal cerebellum development","volume":"56","author":"E Audouard","year":"2013","journal-title":"Mol Cell Neurosci"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1007\/s12640-009-9091-4","article-title":"Neuroprotective effect of PACAP on translational control alteration and cognitive decline in MPTP parkinsonian mice","volume":"17","author":"J Deguil","year":"2010","journal-title":"Neurotox Res"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"4703","DOI":"10.1093\/hmg\/dds310","article-title":"Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus","volume":"21","author":"C Dombret","year":"2012","journal-title":"Hum Mol Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"C149","DOI":"10.1152\/ajpcell.00241.2009","article-title":"Role of TRPC1 channel in skeletal muscle function","volume":"298","author":"N Zanou","year":"2010","journal-title":"Am J Physiol Cell Physiol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1095\/biolreprod.108.068353","article-title":"Expression of the gene for mouse lactate dehydrogenase C (Ldhc) is required for male fertility","volume":"79","author":"F Odet","year":"2008","journal-title":"Biol Reprod"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1007\/s00726-013-1590-1","article-title":"Lysine metabolism in mammalian brain: an update on the importance of recent discoveries","volume":"45","author":"A Hallen","year":"2013","journal-title":"Amino Acids"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1007\/s10545-007-0697-5","article-title":"Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid","volume":"30","author":"EA Struys","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"4393","DOI":"10.1016\/S0021-9258(18)94331-0","article-title":"Reduction of alpha-ketoglutarate by homogeneous lactic dehydrogenase X of testicular tissue","volume":"244","author":"L Schatz","year":"1969","journal-title":"J Biol Chem"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/1750-1172-8-57","article-title":"Genetic basis of hyperlysinemia","volume":"8","author":"SM Houten","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1111\/j.1471-4159.2011.07220.x","article-title":"Mammalian forebrain ketimine reductase identified as \u03bc-crystallin; potential regulation by thyroid hormones","volume":"118","author":"A Hallen","year":"2011","journal-title":"J Neurochem"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1023\/A:1015195009330","article-title":"Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria","volume":"25","author":"P Kamoun","year":"2002","journal-title":"J Inherit Metab Dis"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/0305-0491(92)90435-T","article-title":"Developmental changes of L-lysine-ketoglutarate reductase in rat brain and liver","volume":"103","author":"VV Rao","year":"1992","journal-title":"Comp Biochem Physiol B"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1093\/brain\/awq269","article-title":"Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I","volume":"134","author":"SW Sauer","year":"2011","journal-title":"Brain"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/S0014-5793(00)02401-7","article-title":"The essential amino acid lysine acts as precursor of glutamate in the mammalian central nervous system","volume":"488","author":"F Papes","year":"2001","journal-title":"FEBS Lett"},{"key":"ref37","first-page":"1965","article-title":"The metabolic &amp; molecular bases of inherited disease","volume":"2","author":"RP Cox","year":"2001"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1007\/BF00310381","article-title":"Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria","volume":"88","author":"A Larnaout","year":"1994","journal-title":"Acta Neuropathol"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/S0887-8994(02)00405-8","article-title":"L-2-hydroxyglutaric aciduria in two siblings","volume":"27","author":"L Sztriha","year":"2002","journal-title":"Pediatr Neurol"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1001\/archneur.62.4.666","article-title":"L-2-hydroxyglutaric aciduria","volume":"62","author":"M Seijo-Martinez","year":"2005","journal-title":"Arch Neurol"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.clineuro.2012.06.040","article-title":"L-2 hydroxyglutaric aciduria as a rare cause of leukoencephalopathy in adults","volume":"115","author":"C Weimar","year":"2013","journal-title":"Clin Neurol Neurosurg"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.jcpa.2007.11.005","article-title":"Neuropathological findings in a Staffordshire bull terrier with L-2-hydroxyglutaric aciduria","volume":"138","author":"E Scurrell","year":"2008","journal-title":"J Comp Pathol"},{"key":"ref43","unstructured":"Louis DN, Frosch MP, Mena H, Rushing EJ, Judkins AR. Non-neoplastic diseases of the central nervous system. In: First non-neoplastic disease fascicle series. Armed Forces Institute of Pathology. American Registry of Pathology, Silver Spring, MD. 2009, chapter 12\u2014Metabolic diseases, pp. 345."},{"key":"ref44","doi-asserted-by":"crossref","first-page":"6581","DOI":"10.1523\/JNEUROSCI.0338-07.2007","article-title":"Leukoencephalopathy upon disruption of the chloride channel ClC-2","volume":"27","author":"J Blanz","year":"2007","journal-title":"J Neurosci"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"11537","DOI":"10.1523\/JNEUROSCI.1490-08.2008","article-title":"Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS","volume":"28","author":"M Traka","year":"2008","journal-title":"J Neurosci"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1007\/s10545-006-0415-8","article-title":"The aetiology of neurological complications of organic acidaemias\u2014a role for the blood-brain barrier","volume":"29","author":"S K\u00f6lker","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/s00424-008-0489-2","article-title":"Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias","volume":"457","author":"Y Hagos","year":"2008","journal-title":"Pflugers Arch"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1111\/j.1471-4159.2005.03067.x","article-title":"Transport characteristics of N-acetyl-L-aspartate in rat astrocytes: involvement of sodium-coupled high-affinity carboxylate transporter NaC3\/NaDC3-mediated transport system","volume":"93","author":"T Fujita","year":"2005","journal-title":"J Neurochem"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1111\/j.1471-4159.2006.03720.x","article-title":"Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary cultured cerebrocortical astrocytes and neurons","volume":"97","author":"E Yodoya","year":"2006","journal-title":"J Neurochem"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s10545-010-9268-2","article-title":"The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons","volume":"34","author":"K Brauburger","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/S0387-7604(97)00574-3","article-title":"L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients","volume":"19","author":"C Barbot","year":"1997","journal-title":"Brain Dev"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1002\/ana.410320111","article-title":"L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease","volume":"32","author":"PG Barth","year":"1992","journal-title":"Ann Neurol"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0166-4328(01)00280-7","article-title":"Genetic dissection of mouse exploratory behaviour","volume":"125","author":"WE Crusio","year":"2001","journal-title":"Behav Brain Res"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1016\/S0306-4522(97)00220-0","article-title":"Trimethyltin syndrome as a hippocampal degeneration model: temporal changes and neurochemical features of seizure susceptibility and learning impairment","volume":"81","author":"N Ishida","year":"1997","journal-title":"Neuroscience"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0119540","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T03:55:52Z","timestamp":1651463752000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0119540"}},"subtitle":[],"editor":[{"given":"Hans-Joachim","family":"Lehmler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2015,3,12]]},"references-count":54,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2015,3,12]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0119540","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,12]]}}}