Sequence of CPT1A_HUMAN

carnitine O-palmitoyltransferase

P50416

773

88368

1172494

Britton C.H.,Schultz R.A.,Zhang B.,Esser V.,Foster D.W.,McGarry J.D.

Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.

Proc. Natl. Acad. Sci. U.S.A.

92

1984-1988

1995

1172495

Gobin S.,Bonnefont J.-P.,Prip-Buus C.,Mugnier C.,Ferrec M.,Demaugre F.,Saudubray J.-M.,Rostane H.,Djouadi F.,Wilcox W.,Cederbaum S.,Haas R.,Nyhan W.L.,Green A.,Gray G.,Girard J.,Thuillier L.

Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

Hum. Genet.

111

179-189

2002

1172497

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

1172498

Napal L.,Marrero P.F.,Haro D.

An intronic peroxisome proliferator-activated receptor-binding sequence mediates fatty acid induction of the human carnitine palmitoyltransferase 1A.

J. Mol. Biol.

354

751-759

2005

1172499

Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.

Initial characterization of the human central proteome.

BMC Syst. Biol.

5

17-17

2011

1172500

Vaca Jacome A.S.,Rabilloud T.,Schaeffer-Reiss C.,Rompais M.,Ayoub D.,Lane L.,Bairoch A.,Van Dorsselaer A.,Carapito C.

N-terminome analysis of the human mitochondrial proteome.

Proteomics

15

2519-2524

2015

1172501

Morillas M.,Lopez-Vinas E.,Valencia A.,Serra D.,Gomez-Puertas P.,Hegardt F.G.,Asins G.

Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal.

Biochem. J.

379

777-784

2004

1172502

Rao J.N.,Warren G.Z.,Estolt-Povedano S.,Zammit V.A.,Ulmer T.S.

An environment-dependent structural switch underlies the regulation of carnitine palmitoyltransferase 1A.

J. Biol. Chem.

286

42545-42554

2011

1172503

Ijlst L.,Mandel H.,Oostheim W.,Ruiter J.P.N.,Gutman A.,Wanders R.J.

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

J. Clin. Invest.

102

527-531

1998

1172504

Brown N.F.,Mullur R.S.,Subramanian I.,Esser V.,Bennett M.J.,Saudubray J.-M.,Feigenbaum A.S.,Kobari J.A.,Macleod P.M.,McGarry J.D.,Cohen J.C.

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

J. Lipid Res.

42

1134-1142

2001

1172505

Prip-Buus C.,Thuillier L.,Abadi N.,Prasad C.,Dilling L.,Klasing J.,Demaugre F.,Greenberg C.R.,Haworth J.C.,Droin V.,Kadhom N.,Gobin S.,Kamoun P.,Girard J.,Bonnefont J.-P.

Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

Mol. Genet. Metab.

73

46-54

2001

1172506

Ogawa E.,Kanazawa M.,Yamamoto S.,Ohtsuka S.,Ogawa A.,Ohtake A.,Takayanagi M.,Kohno Y.

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

J. Hum. Genet.

47

342-347

2002

1172507

Gobin S.,Thuillier L.,Jogl G.,Faye A.,Tong L.,Chi M.,Bonnefont J.-P.,Girard J.,Prip-Buus C.

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

J. Biol. Chem.

278

50428-50434

2003

1172508

Stoler J.M.,Sabry M.A.,Hanley C.,Hoppel C.L.,Shih V.E.

Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

J. Inherit. Metab. Dis.

27

679-684

2004

1172509

Bennett M.J.,Boriack R.L.,Narayan S.,Rutledge S.L.,Raff M.L.

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

Mol. Genet. Metab.

82

59-63

2004