{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T13:18:10Z","timestamp":1792156690453,"version":"4.4.0"},"reference-count":164,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"vor","delay-in-days":365,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["DK 53824"],"award-info":[{"award-number":["DK 53824"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Cell Research"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.1016\/j.bbamcr.2016.01.023","type":"journal-article","created":{"date-parts":[[2016,1,29]],"date-time":"2016-01-29T12:02:34Z","timestamp":1454068954000},"page":"2422-2435","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":936,"title":["Carnitine transport and fatty acid oxidation"],"prefix":"10.1016","volume":"1863","author":[{"given":"Nicola","family":"Longo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Frigeni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzia","family":"Pasquali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbamcr.2016.01.023_bb0005","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"2297","article-title":"Mitochondrial fatty acid oxidation disorders","author":"Roe","year":"2001"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0010","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1007\/s10545-010-9061-2","article-title":"A general introduction to the biochemistry of mitochondrial fatty acid beta-oxidation","volume":"33","author":"Houten","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0015","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/ajmg.c.30087","article-title":"Disorders of carnitine transport and the carnitine cycle","volume":"142C","author":"Longo","year":"2006","journal-title":"Am. J. Med. Genet. C: Semin. Med. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0020","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1146\/annurev.bi.57.070188.001401","article-title":"Carnitine","volume":"57","author":"Bieber","year":"1988","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0025","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s11897-013-0133-0","article-title":"Cardiac lipotoxicity: molecular pathways and therapeutic implications","volume":"10","author":"Drosatos","year":"2013","journal-title":"Curr. Heart Fail. Rep."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0030","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/ajmg.c.30086","article-title":"Biochemical findings in common inborn errors of metabolism","volume":"142C","author":"Pasquali","year":"2006","journal-title":"Am. J. Med. Genet. C: Semin. Med. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0035","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1196\/annals.1320.003","article-title":"Kinetics, pharmacokinetics, and regulation of L-carnitine and acetyl-L-carnitine metabolism","volume":"1033","author":"Rebouche","year":"2004","journal-title":"Ann. N. Y. Acad. Sci."},{"issue":"Suppl. 2","key":"10.1016\/j.bbamcr.2016.01.023_bb0040","first-page":"S25","article-title":"Carnitine in neonatal nutrition","volume":"10","author":"Borum","year":"1995","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0045","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1172\/JCI111281","article-title":"Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport","volume":"73","author":"Rebouche","year":"1984","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0050","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1196\/annals.1320.004","article-title":"Carnitine deficiency disorders in children","volume":"1033","author":"Stanley","year":"2004","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0055","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1042\/bj3610417","article-title":"Carnitine biosynthesis in mammals","volume":"361","author":"Vaz","year":"2002","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0060","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/S0146-0005(99)80047-0","article-title":"Primary and secondary alterations of neonatal carnitine metabolism","volume":"23","author":"Scaglia","year":"1999","journal-title":"Semin. Perinatol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0065","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2015.09.004","article-title":"Disorders of carnitine biosynthesis and transport","author":"El-Hattab","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0070","doi-asserted-by":"crossref","first-page":"20378","DOI":"10.1074\/jbc.273.32.20378","article-title":"Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2","volume":"273","author":"Tamai","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0075","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1006\/abbi.1999.1118","article-title":"Functional characterization of the carnitine transporter defective in primary carnitine deficiency","volume":"364","author":"Scaglia","year":"1999","journal-title":"Arch. Biochem. Biophys."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0080","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/00125817-199811000-00008","article-title":"Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency","volume":"1","author":"Scaglia","year":"1998","journal-title":"Genet. Med."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0085","doi-asserted-by":"crossref","first-page":"20023","DOI":"10.1074\/jbc.R115.663260","article-title":"Physiological consequences of compartmentalized acyl-CoA metabolism","volume":"290","author":"Cooper","year":"2015","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0090","first-page":"221","article-title":"Molecular pathways in non-alcoholic fatty liver disease","volume":"7","author":"Berlanga","year":"2014","journal-title":"Clin. Exp. Gastroenterol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0095","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s10545-015-9819-7","article-title":"Peroxisome-mitochondria interplay and disease","volume":"38","author":"Schrader","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0100","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1016\/j.mam.2012.07.010","article-title":"SLC27 fatty acid transport proteins","volume":"34","author":"Anderson","year":"2013","journal-title":"Mol. Asp. Med."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0105","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1152\/physiol.00014.2006","article-title":"Protein-mediated fatty acid uptake: novel insights from in vivo models","volume":"21","author":"Doege","year":"2006","journal-title":"Physiology (Bethesda)"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0110","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.bbalip.2006.05.003","article-title":"Yeast acyl-CoA synthetases at the crossroads of fatty acid metabolism and regulation","volume":"1771","author":"Black","year":"2007","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0115","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/9780470985571.ch11","article-title":"Vectorial acylation: linking fatty acid transport and activation to metabolic trafficking","volume":"286","author":"Black","year":"2007","journal-title":"Novartis Found. Symp."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0120","doi-asserted-by":"crossref","first-page":"599","DOI":"10.7150\/ijms.8.599","article-title":"Overexpression of CD36 and acyl-CoA synthetases FATP2, FATP4 and ACSL1 increases fatty acid uptake in human hepatoma cells","volume":"8","author":"Krammer","year":"2011","journal-title":"Int. J. Med. Sci."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0125","first-page":"233","article-title":"Methods to monitor fatty acid transport proceeding through vectorial acylation","volume":"580","author":"Arias-Barrau","year":"2009","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0130","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.abb.2006.01.005","article-title":"Fatty acid transport by vectorial acylation in mammals: roles played by different isoforms of rat long-chain acyl-CoA synthetases","volume":"447","author":"Tong","year":"2006","journal-title":"Arch. Biochem. Biophys."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0135","doi-asserted-by":"crossref","first-page":"16414","DOI":"10.1074\/jbc.M210557200","article-title":"Vectorial acylation in Saccharomyces cerevisiae. Fat1p and fatty acyl-CoA synthetase are interacting components of a fatty acid import complex","volume":"278","author":"Zou","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0140","doi-asserted-by":"crossref","first-page":"E1072","DOI":"10.1152\/ajpendo.2000.279.5.E1072","article-title":"Fatty acid transport protein-1 mRNA expression in skeletal muscle and in adipose tissue in humans","volume":"279","author":"Binnert","year":"2000","journal-title":"Am. J. Physiol. Endocrinol. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0145","doi-asserted-by":"crossref","first-page":"30670","DOI":"10.1074\/jbc.M111.226316","article-title":"Human fatty acid transport protein 2a\/very long chain acyl-CoA synthetase 1 (FATP2a\/Acsvl1) has a preference in mediating the channeling of exogenous n-3 fatty acids into phosphatidylinositol","volume":"286","author":"Melton","year":"2011","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0150","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/S0378-1119(01)00489-9","article-title":"Mouse fatty acid transport protein 4 (FATP4): characterization of the gene and functional assessment as a very long chain acyl-CoA synthetase","volume":"270","author":"Herrmann","year":"2001","journal-title":"Gene"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0155","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1083\/jcb.200207080","article-title":"Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy","volume":"161","author":"Herrmann","year":"2003","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0160","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.ajhg.2009.06.021","article-title":"Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome","volume":"85","author":"Klar","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0165","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/mt.2010.264","article-title":"Adaptive antiviral immunity is a determinant of the therapeutic success of oncolytic virotherapy","volume":"19","author":"Sobol","year":"2011","journal-title":"Mol. Ther."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0170","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1053\/j.gastro.2006.02.012","article-title":"Mice deleted for fatty acid transport protein 5 have defective bile acid conjugation and are protected from obesity","volume":"130","author":"Hubbard","year":"2006","journal-title":"Gastroenterology"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0175","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1111\/j.1872-034X.2008.00464.x","article-title":"Analysis of hepatic genes involved in the metabolism of fatty acids and iron in nonalcoholic fatty liver disease","volume":"39","author":"Mitsuyoshi","year":"2009","journal-title":"Hepatol. Res."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0180","doi-asserted-by":"crossref","first-page":"1422","DOI":"10.1017\/S0007114511004727","article-title":"A variant in the heart-specific fatty acid transport protein 6 is associated with lower fasting and postprandial TAG, blood pressure and left ventricular hypertrophy","volume":"107","author":"Auinger","year":"2012","journal-title":"Br. J. Nutr."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0185","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/0092-8674(89)90406-6","article-title":"CD36 directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes","volume":"58","author":"Oquendo","year":"1989","journal-title":"Cell"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0190","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1007\/s10557-006-0582-8","article-title":"Regulation of sarcolemmal transport of substrates in the healthy and diseased heart","volume":"20","author":"Glatz","year":"2006","journal-title":"Cardiovasc. Drugs Ther."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0195","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1152\/physrev.00023.2004","article-title":"Skeletal muscle lipid metabolism in exercise and insulin resistance","volume":"86","author":"Kiens","year":"2006","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0200","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1194\/jlr.P700032-JLR200","article-title":"Chylomicron remnants are increased in the postprandial state in CD36 deficiency","volume":"50","author":"Masuda","year":"2009","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0205","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/35016636","article-title":"Malaria susceptibility and CD36 mutation","volume":"405","author":"Aitman","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0210","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.mce.2014.06.017","article-title":"Role of aquaglyceroporins and caveolins in energy and metabolic homeostasis","volume":"397","author":"Mendez-Gimenez","year":"2014","journal-title":"Mol. Cell. Endocrinol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0215","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1210\/jc.2007-1328","article-title":"Association of a homozygous nonsense caveolin-1 mutation with Berardinelli\u2013Seip congenital lipodystrophy","volume":"93","author":"Kim","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0220","doi-asserted-by":"crossref","first-page":"8635","DOI":"10.1074\/jbc.M110970200","article-title":"Caveolin-1-deficient mice are lean, resistant to diet-induced obesity, and show hypertriglyceridemia with adipocyte abnormalities","volume":"277","author":"Razani","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0225","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1073\/pnas.93.1.131","article-title":"Identification, sequence, and expression of caveolin-2 defines a caveolin gene family","volume":"93","author":"Scherer","year":"1996","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0230","doi-asserted-by":"crossref","first-page":"2329","DOI":"10.1128\/MCB.22.7.2329-2344.2002","article-title":"Caveolin-2-deficient mice show evidence of severe pulmonary dysfunction without disruption of caveolae","volume":"22","author":"Razani","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0235","doi-asserted-by":"crossref","first-page":"2255","DOI":"10.1074\/jbc.271.4.2255","article-title":"Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle","volume":"271","author":"Tang","year":"1996","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0240","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1038\/ejhg.2009.103","article-title":"Caveolinopathies: from the biology of caveolin-3 to human diseases","volume":"18","author":"Gazzerro","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0245","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1038\/nrd2589","article-title":"Fatty acid-binding proteins: role in metabolic diseases and potential as drug targets","volume":"7","author":"Furuhashi","year":"2008","journal-title":"Nat. Rev. Drug Discov."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0250","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev-nutr-071813-105541","article-title":"Acyl-CoA metabolism and partitioning","volume":"34","author":"Grevengoed","year":"2014","journal-title":"Annu. Rev. Nutr."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0255","doi-asserted-by":"crossref","first-page":"G36","DOI":"10.1152\/ajpgi.00510.2004","article-title":"Liver fatty acid binding protein gene ablation potentiates hepatic cholesterol accumulation in cholesterol-fed female mice","volume":"290","author":"Martin","year":"2006","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0260","doi-asserted-by":"crossref","first-page":"21429","DOI":"10.1074\/jbc.M300287200","article-title":"Decreased liver fatty acid binding capacity and altered liver lipid distribution in mice lacking the liver fatty acid-binding protein gene","volume":"278","author":"Martin","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0265","doi-asserted-by":"crossref","first-page":"51664","DOI":"10.1074\/jbc.M309377200","article-title":"Decreased hepatic triglyceride accumulation and altered fatty acid uptake in mice with deletion of the liver fatty acid-binding protein gene","volume":"278","author":"Newberry","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0270","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1038\/nrendo.2015.122","article-title":"Metabolic functions of FABPs-mechanisms and therapeutic implications","volume":"11","author":"Hotamisligil","year":"2015","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0275","doi-asserted-by":"crossref","first-page":"2156","DOI":"10.1093\/eurheartj\/ehn295","article-title":"Epidermal fatty-acid-binding protein: a new circulating biomarker associated with cardio-metabolic risk factors and carotid atherosclerosis","volume":"29","author":"Yeung","year":"2008","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0280","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1126\/science.274.5291.1377","article-title":"Uncoupling of obesity from insulin resistance through a targeted mutation in aP2, the adipocyte fatty acid binding protein","volume":"274","author":"Hotamisligil","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0285","doi-asserted-by":"crossref","first-page":"3388","DOI":"10.1210\/endo.141.9.7637","article-title":"Improved glucose and lipid metabolism in genetically obese mice lacking aP2","volume":"141","author":"Uysal","year":"2000","journal-title":"Endocrinology"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0290","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1038\/89076","article-title":"Lack of macrophage fatty-acid-binding protein aP2 protects mice deficient in apolipoprotein E against atherosclerosis","volume":"7","author":"Makowski","year":"2001","journal-title":"Nat. Med."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0295","doi-asserted-by":"crossref","first-page":"1686","DOI":"10.1161\/01.ATV.0000033090.81345.E6","article-title":"Adipocyte fatty acid-binding protein, aP2, alters late atherosclerotic lesion formation in severe hypercholesterolemia","volume":"22","author":"Boord","year":"2002","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0300","doi-asserted-by":"crossref","first-page":"300","DOI":"10.2337\/diabetes.52.2.300","article-title":"Role of the fatty acid binding protein mal1 in obesity and insulin resistance","volume":"52","author":"Maeda","year":"2003","journal-title":"Diabetes"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0305","doi-asserted-by":"crossref","first-page":"2736","DOI":"10.1194\/jlr.M700378-JLR200","article-title":"Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome","volume":"48","author":"Watkins","year":"2007","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0310","doi-asserted-by":"crossref","first-page":"31717","DOI":"10.1074\/jbc.M400100200","article-title":"Structural basis of the substrate-specific two-step catalysis of long chain fatty acyl-CoA synthetase dimer","volume":"279","author":"Hisanaga","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0315","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.plipres.2015.04.001","article-title":"Long-chain acyl-CoA esters in metabolism and signaling: role of acyl-CoA binding proteins","volume":"59","author":"Neess","year":"2015","journal-title":"Prog. Lipid Res."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0320","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/978-94-007-6889-5_2","article-title":"Peroxisomes in human health and disease: metabolic pathways, metabolite transport, interplay with other organelles and signal transduction","volume":"69","author":"Wanders","year":"2013","journal-title":"Subcell. Biochem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0325","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1471-2091-13-23","article-title":"Metabolomic profiling reveals a role for CPT1c in neuronal oxidative metabolism","volume":"13","author":"Lee","year":"2012","journal-title":"BMC Biochem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0330","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1016\/j.bbalip.2013.06.007","article-title":"Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient","volume":"1831","author":"Violante","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0335","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.biochi.2013.08.022","article-title":"Metabolic functions of peroxisomes in health and disease","volume":"98","author":"Wanders","year":"2014","journal-title":"Biochimie"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0340","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.bbalip.2010.01.001","article-title":"Peroxisomes, lipid metabolism and lipotoxicity","volume":"1801","author":"Wanders","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0345","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1073\/pnas.1218034110","article-title":"Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids","volume":"110","author":"De Marcos Lousa","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0350","doi-asserted-by":"crossref","first-page":"4201","DOI":"10.1096\/fj.08-110866","article-title":"The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters","volume":"22","author":"van Roermund","year":"2008","journal-title":"FASEB J."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0355","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.bbalip.2010.11.010","article-title":"Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid beta-oxidation","volume":"1811","author":"van Roermund","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0360","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.bbalip.2013.12.001","article-title":"A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids","volume":"1841","author":"van Roermund","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0365","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/j.bbrc.2011.05.068","article-title":"Changes in carnitine octanoyltransferase activity induce alteration in fatty acid metabolism","volume":"409","author":"Le Borgne","year":"2011","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0370","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1016\/j.bbalip.2011.06.006","article-title":"Phytanic acid metabolism in health and disease","volume":"1811","author":"Wanders","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0375","doi-asserted-by":"crossref","first-page":"2263","DOI":"10.1016\/j.bcp.2008.03.004","article-title":"Cytochrome P450 omega hydroxylase (CYP4) function in fatty acid metabolism and metabolic diseases","volume":"75","author":"Hardwick","year":"2008","journal-title":"Biochem. Pharmacol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0380","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1096\/fj.07-099150","article-title":"Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids","volume":"22","author":"Sanders","year":"2008","journal-title":"FASEB J."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0385","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1111\/j.1742-4658.2010.07947.x","article-title":"Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans","volume":"278","author":"Wanders","year":"2011","journal-title":"FEBS J."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0390","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s11745-013-3865-4","article-title":"Monounsaturated 14:1n-9 and 16:1n-9 fatty acids but not 18:1n-9 induce apoptosis and necrosis in murine HL-1 cardiomyocytes","volume":"49","author":"Hoffmann","year":"2014","journal-title":"Lipids"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0395","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1097\/ALN.0b013e31821a8d46","article-title":"Carnitine deficiency increases susceptibility to bupivacaine-induced cardiotoxicity in rats","volume":"114","author":"Wong","year":"2011","journal-title":"Anesthesiology"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0400","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1194\/jlr.R012120","article-title":"Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: thematic review series: genetics of human lipid diseases","volume":"53","author":"Saini-Chohan","year":"2012","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0405","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1179\/016164110X12767786356390","article-title":"Genotype\u2013phenotype correlations in a large series of patients with muscle type CPT II deficiency","volume":"33","author":"Anichini","year":"2011","journal-title":"Neurol. Res."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0410","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/humu.21607","article-title":"Genotype\u2013phenotype correlation in primary carnitine deficiency","volume":"33","author":"Rose","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0415","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1093\/hmg\/8.12.2247","article-title":"Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency","volume":"8","author":"Koizumi","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0420","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1067\/mpd.2001.111813","article-title":"Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry","volume":"138","author":"Wilcken","year":"2001","journal-title":"J. Pediatr."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0425","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.ymgme.2014.07.009","article-title":"Inborn errors of metabolism identified via newborn screening: ten-year incidence data and costs of nutritional interventions for research agenda planning","volume":"113","author":"Therrell","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0430","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/s10545-007-0527-9","article-title":"Carnitine transporter and holocarboxylase synthetase deficiencies in the Faroe Islands","volume":"30","author":"Lund","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0435","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/s10545-013-9640-0","article-title":"Primary carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening","volume":"37","author":"Rasmussen","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0440","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s10545-013-9606-2","article-title":"Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands","volume":"37","author":"Rasmussen","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0445","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1016\/S0022-3565(24)35056-6","article-title":"Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation\/carnitine transporter","volume":"290","author":"Wu","year":"1999","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0450","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ymgme.2008.02.002","article-title":"Cardiomyopathy and carnitine deficiency","volume":"94","author":"di San Filippo","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0455","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1006\/bbrc.1998.8669","article-title":"cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family","volume":"246","author":"Wu","year":"1998","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0460","doi-asserted-by":"crossref","first-page":"F853","DOI":"10.1152\/ajprenal.2000.278.6.F853","article-title":"Structure of renal organic anion and cation transporters","volume":"278","author":"Burckhardt","year":"2000","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0465","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.bbadis.2010.11.007","article-title":"Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency","volume":"1812","author":"Filippo","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0470","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/humu.20314","article-title":"Pharmacological rescue of carnitine transport in primary carnitine deficiency","volume":"27","author":"Amat di San Filippo","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0475","doi-asserted-by":"crossref","first-page":"7247","DOI":"10.1074\/jbc.M309171200","article-title":"Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine\/organic cation transporter","volume":"279","author":"Amat di San Filippo","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0480","doi-asserted-by":"crossref","first-page":"C912","DOI":"10.1152\/ajpcell.2001.280.4.C912","article-title":"Insulin increases the turnover rate of Na+\u2212K+-ATPase in human fibroblasts","volume":"280","author":"Longo","year":"2001","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0490","doi-asserted-by":"crossref","first-page":"47776","DOI":"10.1074\/jbc.M307911200","article-title":"Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency","volume":"278","author":"Amat di San Filippo","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0495","doi-asserted-by":"crossref","first-page":"20782","DOI":"10.1074\/jbc.M000194200","article-title":"Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency","volume":"275","author":"Wang","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0500","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3","article-title":"A missense mutation in the OCTN2 gene associated with residual carnitine transport activity","volume":"15","author":"Wang","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0510","doi-asserted-by":"crossref","first-page":"2356","DOI":"10.1073\/pnas.96.5.2356","article-title":"Mutations in the organic cation\/carnitine transporter OCTN2 in primary carnitine deficiency","volume":"96","author":"Wang","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0515","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1097\/00125817-200111000-00002","article-title":"Phenotype and genotype variation in primary carnitine deficiency","volume":"3","author":"Wang","year":"2001","journal-title":"Genet. Med."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0520","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1023\/A:1025968502527","article-title":"Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation\/carnitine transporter OCTN2","volume":"26","author":"Spiekerkoetter","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0525","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1006\/mgme.2000.3093","article-title":"Antagonizing effect of AP-1 on glucocorticoid induction of urea cycle enzymes: a study of hyperammonemia in carnitine-deficient, juvenile visceral steatosis mice","volume":"71","author":"Saheki","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0530","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1111\/cge.12112","article-title":"Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype","volume":"85","author":"Shibbani","year":"2014","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0535","doi-asserted-by":"crossref","first-page":"785","DOI":"10.4070\/kcj.2013.43.12.785","article-title":"Primary carnitine deficiency and cardiomyopathy","volume":"43","author":"Fu","year":"2013","journal-title":"Korean Circ. J."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0540","first-page":"929","article-title":"Clinical presentation and therapeutic outcomes of carnitine deficiency-induced cardiomyopathy","volume":"50","author":"Fu","year":"2012","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0545","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/8904_2011_52","article-title":"Primary carnitine deficiency presents atypically with long QT syndrome: a case report","volume":"2","author":"De Biase","year":"2012","journal-title":"JIMD Rep."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0550","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1097\/GIM.0b013e3181c5e6f7","article-title":"Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects","volume":"12","author":"El-Hattab","year":"2010","journal-title":"Genet. Med."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0555","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.ymgme.2009.12.015","article-title":"Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening","volume":"100","author":"Lee","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0560","doi-asserted-by":"crossref","first-page":"E1632","DOI":"10.1002\/humu.21311","article-title":"Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency","volume":"31","author":"Li","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0565","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/j.ymgme.2006.10.003","article-title":"Expanded newborn screening identifies maternal primary carnitine deficiency","volume":"90","author":"Schimmenti","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0570","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1002\/1098-1004(200011)16:5<401::AID-HUMU4>3.0.CO;2-J","article-title":"Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype\u2013phenotype correlation","volume":"16","author":"Wang","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0575","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/ajmg.10585","article-title":"Novel OCTN2 mutations: no genotype\u2013phenotype correlations: early carnitine therapy prevents cardiomyopathy","volume":"111","author":"Lamhonwah","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0580","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ymgme.2013.04.008","article-title":"Differences between acylcarnitine profiles in plasma and bloodspots","volume":"110","author":"de Sain-van der Velden","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0585","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s10545-012-9488-8","article-title":"Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events","volume":"36","author":"Rasmussen","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0590","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1111\/j.1540-8159.2004.00507.x","article-title":"Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence","volume":"27","author":"Rijlaarsdam","year":"2004","journal-title":"Pacing Clin. Electrophysiol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0595","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1159\/000333127","article-title":"Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2","volume":"120","author":"Mazzini","year":"2011","journal-title":"Cardiology"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0600","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/s10545-006-0376-y","article-title":"Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants","volume":"29","author":"Vijay","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0605","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/j.1399-0004.2009.01368.x","article-title":"Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation","volume":"78","author":"Sarafoglou","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0610","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.ymgme.2008.01.005","article-title":"Maternal glutaric acidemia, type I identified by newborn screening","volume":"94","author":"Crombez","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0615","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.ymgme.2011.01.011","article-title":"Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening","volume":"103","author":"Leydiker","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0620","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1515\/jpem-2014-0302","article-title":"An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening","volume":"28","author":"Kor","year":"2015","journal-title":"J. Pediatr. Endocrinol. Metab.: JPEM"},{"issue":"Suppl. 1","key":"10.1016\/j.bbamcr.2016.01.023_bb0625","first-page":"S199","article-title":"Functional and molecular evaluation of patients with primary carnitine deficiency","volume":"38","author":"Frigeni","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0630","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1038\/5030","article-title":"Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter","volume":"21","author":"Nezu","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0635","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/humu.20137","article-title":"Validation of dye-binding\/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene","volume":"25","author":"Dobrowolski","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0640","doi-asserted-by":"crossref","first-page":"1602","DOI":"10.1124\/mol.106.028126","article-title":"Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5)","volume":"70","author":"Urban","year":"2006","journal-title":"Mol. Pharmacol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0645","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1023\/A:1020143632011","article-title":"Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency","volume":"25","author":"Rahbeeni","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0650","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1023\/B:BOLI.0000045837.23328.f4","article-title":"Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy","volume":"27","author":"Makhseed","year":"2004","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0655","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.ejmg.2014.08.001","article-title":"Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency","volume":"57","author":"Han","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0660","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1093\/hmg\/8.4.655","article-title":"Mutations of OCTN2, an organic cation\/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency","volume":"8","author":"Tang","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0665","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/8904_2011_36","article-title":"Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency","volume":"3","author":"Kilic","year":"2012","journal-title":"JIMD Rep."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0670","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1006\/bbrc.1999.1060","article-title":"Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality","volume":"261","author":"Burwinkel","year":"1999","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0675","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/s004399900105","article-title":"Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency","volume":"105","author":"Vaz","year":"1999","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0680","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/humu.9053","article-title":"A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients","volume":"20","author":"Tang","year":"2002","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0685","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S1096-7192(02)00169-5","article-title":"Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency","volume":"77","author":"Cederbaum","year":"2002","journal-title":"Mol. Genet. Metab."},{"issue":"Suppl. 1","key":"10.1016\/j.bbamcr.2016.01.023_bb0690","doi-asserted-by":"crossref","first-page":"S15","DOI":"10.1007\/s10545-009-0926-1","article-title":"Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency","volume":"32","author":"Komlosi","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0695","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8","article-title":"Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency","volume":"15","author":"Mayatepek","year":"2000","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0700","first-page":"89","article-title":"A Novel Mutation (L363p) In The Octn2 Gene And Its Effect On Secondary Protein Structure","volume":"78","author":"Akpinar","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0705","first-page":"259627","article-title":"Identification of SLC22A5 Gene Mutation in a family with carnitine uptake defect","volume":"2015","author":"Mutlu-Albayrak","year":"2015","journal-title":"Case Rep. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0710","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ymgmr.2014.04.008","article-title":"Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency","volume":"1","author":"Rasmussen","year":"2014","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0715","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/8904_2014_398","article-title":"Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation","volume":"20","author":"Rasmussen","year":"2015","journal-title":"JIMD Rep."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0750","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.1469-7793.2001.0297f.x","article-title":"Na+\u2212 and Cl-coupled active transport of carnitine by the amino acid transporter ATB(0,+) from mouse colon expressed in HRPE cells and Xenopus oocytes","volume":"532","author":"Nakanishi","year":"2001","journal-title":"J. Physiol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0755","first-page":"209","article-title":"Carnitine disorders","volume":"42","author":"Stanley","year":"1995","journal-title":"Adv. Pediatr. Infect. Dis."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0760","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1177\/1087057113493006","article-title":"OCTN cation transporters in health and disease: role as drug targets and assay development","volume":"18","author":"Pochini","year":"2013","journal-title":"J. Biomol. Screen."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0765","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1016\/j.bbamem.2006.07.002","article-title":"Mechanism of the inhibitory effect of zwitterionic drugs (levofloxacin and grepafloxacin) on carnitine transporter (OCTN2) in Caco-2 cells","volume":"1758","author":"Hirano","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0770","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1158\/1535-7163.MCT-11-0980","article-title":"Inhibition of OCTN2-mediated transport of carnitine by etoposide","volume":"11","author":"Hu","year":"2012","journal-title":"Mol. Cancer Ther."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0775","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.cbi.2008.10.052","article-title":"Inactivation by omeprazole of the carnitine transporter (OCTN2) reconstituted in liposomes","volume":"179","author":"Pochini","year":"2009","journal-title":"Chem. Biol. Interact."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0780","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1093\/ajcn\/50.2.301","article-title":"Carnitine status of lactoovovegetarians and strict vegetarian adults and children","volume":"50","author":"Lombard","year":"1989","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0785","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/S0022-3476(81)80252-1","article-title":"Dietary-dependent carnitine deficiency as a cause of nonketotic hypoglycemia in an infant","volume":"99","author":"Slonim","year":"1981","journal-title":"J. Pediatr."},{"issue":"Suppl. 1","key":"10.1016\/j.bbamcr.2016.01.023_bb0790","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000243302","article-title":"Carnitine and total parenteral nutrition of the neonate","volume":"58","author":"Schmidt-Sommerfeld","year":"1990","journal-title":"Biol. Neonate"},{"issue":"Suppl. 2","key":"10.1016\/j.bbamcr.2016.01.023_bb0795","first-page":"S3","article-title":"Biosynthesis and metabolism of carnitine","volume":"10","author":"Carter","year":"1995","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0800","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1126\/science.174.4005.114","article-title":"Protein methylation","volume":"174","author":"Paik","year":"1971","journal-title":"Science"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0805","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/0304-4165(80)90133-6","article-title":"Tissue distribution of carnitine biosynthetic enzymes in man","volume":"630","author":"Rebouche","year":"1980","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0810","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1093\/jn\/117.6.1024","article-title":"Gamma-butyrobetaine hydroxylase activity is not rate limiting for carnitine biosynthesis in the human infant","volume":"117","author":"Olson","year":"1987","journal-title":"J. Nutr."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0815","doi-asserted-by":"crossref","first-page":"4360","DOI":"10.1093\/hmg\/ddr363","article-title":"Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE","volume":"20","author":"Celestino-Soper","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0820","doi-asserted-by":"crossref","first-page":"7974","DOI":"10.1073\/pnas.1120210109","article-title":"A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism","volume":"109","author":"Celestino-Soper","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0825","doi-asserted-by":"crossref","DOI":"10.1038\/tp.2012.102","article-title":"Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE","volume":"2","author":"Nava","year":"2012","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0830","doi-asserted-by":"crossref","first-page":"2496","DOI":"10.1002\/ajmg.a.37192","article-title":"Corrigendum to \"improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation\"","volume":"167A","author":"Ziats","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0835","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1002\/ajmg.a.37144","article-title":"Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation","volume":"167","author":"Ziats","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0840","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1007\/s10803-004-5283-1","article-title":"Relative carnitine deficiency in autism","volume":"34","author":"Filipek","year":"2004","journal-title":"J. Autism Dev. Disord."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0845","first-page":"253","article-title":"Short-term medication of L-carnitine before intracytoplasmic sperm injection for infertile men with oligoasthenozoospermia","volume":"18","author":"Wu","year":"2012","journal-title":"Zhonghua Nan Ke Xue"},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0850","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/1471-2350-15-75","article-title":"The effect of homozygous deletion of the BBOX1 and fibin genes on carnitine level and acyl carnitine profile","volume":"15","author":"Rashidi-Nezhad","year":"2014","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0855","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.ydbio.2006.11.041","article-title":"Fibin, a novel secreted lateral plate mesoderm signal, is essential for pectoral fin bud initiation in zebrafish","volume":"303","author":"Wakahara","year":"2007","journal-title":"Dev. Biol."},{"key":"10.1016\/j.bbamcr.2016.01.023_bb0860","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.1016\/j.bbalip.2006.09.014","article-title":"Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene","volume":"1761","author":"Rigault","year":"2006","journal-title":"Biochim. Biophys. Acta"}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167488916300131?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167488916300131?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T04:02:07Z","timestamp":1748750527000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0167488916300131"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10]]},"references-count":164,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["S0167488916300131"],"URL":"https:\/\/doi.org\/10.1016\/j.bbamcr.2016.01.023","relation":{},"ISSN":["0167-4889"],"issn-type":[{"value":"0167-4889","type":"print"}],"subject":[],"published":{"date-parts":[[2016,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Carnitine transport and fatty acid oxidation","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Molecular Cell Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbamcr.2016.01.023","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier B.V.","name":"copyright","label":"Copyright"}]}}