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    Results: 1 to 20 of 96

    1.

    Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation.

    Hogan KJ, Vladutiu GD.

    Anesth Analg. 2009 Oct;109(4):1070-2.PMID: 19762733 [PubMed - indexed for MEDLINE]Related articles

    2.

    The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.

    Greenberg CR, Dilling LA, Thompson GR, Seargeant LE, Haworth JC, Phillips S, Chan A, Vallance HD, Waters PJ, Sinclair G, Lillquist Y, Wanders RJ, Olpin SE.

    Mol Genet Metab. 2009 Apr;96(4):201-7. Epub 2009 Feb 13.PMID: 19217814 [PubMed - indexed for MEDLINE]Related articles

    3.

    Overexpression of carnitine palmitoyltransferase-1 in skeletal muscle is sufficient to enhance fatty acid oxidation and improve high-fat diet-induced insulin resistance.

    Bruce CR, Hoy AJ, Turner N, Watt MJ, Allen TL, Carpenter K, Cooney GJ, Febbraio MA, Kraegen EW.

    Diabetes. 2009 Mar;58(3):550-8. Epub 2008 Dec 10.PMID: 19073774 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.

    Illsinger S, Lücke T, Peter M, Ruiter JP, Wanders RJ, Deschauer M, Handig I, Wuyts W, Das AM.

    Am J Med Genet A. 2008 Nov 15;146A(22):2925-8.PMID: 18925671 [PubMed - indexed for MEDLINE]Related articles

    5.

    Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.

    Roe CR, Yang BZ, Brunengraber H, Roe DS, Wallace M, Garritson BK.

    Neurology. 2008 Jul 22;71(4):260-4.PMID: 18645163 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.

    Semba S, Yasujima H, Takano T, Yokozaki H.

    Pathol Int. 2008 Jul;58(7):436-41.PMID: 18577113 [PubMed - indexed for MEDLINE]Related articles

    7.

    CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

    Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD.

    Mol Genet Metab. 2008 Aug;94(4):422-7. Epub 2008 Jun 11.PMID: 18550408 [PubMed - indexed for MEDLINE]Related articles

    8.

    Carnitine palmitoyltransferase I and Acyl-CoA dehydrogenase 9 in retina: insights of retinopathy in mitochondrial trifunctional protein defects.

    Roomets E, Kivelä T, Tyni T.

    Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1660-4.PMID: 18385088 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.

    Yasuno T, Kaneoka H, Tokuyasu T, Aoki J, Yoshida S, Takayanagi M, Ohtake A, Kanazawa M, Ogawa A, Tojo K, Saito T.

    Clin Genet. 2008 May;73(5):496-501. Epub 2007 Mar 19.PMID: 18363739 [PubMed - indexed for MEDLINE]Related articles

    10.

    Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.

    Yao D, Mizuguchi H, Yamaguchi M, Yamada H, Chida J, Shikata K, Kido H.

    Hum Mutat. 2008 May;29(5):718-27.PMID: 18306170 [PubMed - indexed for MEDLINE]Related articles

    11.

    Carnitine palmitoyltransferase I in human carcinomas: a novel role in histone deacetylation?

    Mazzarelli P, Pucci S, Bonanno E, Sesti F, Calvani M, Spagnoli LG.

    Cancer Biol Ther. 2007 Oct;6(10):1606-13. Epub 2007 Jul 13.PMID: 18253084 [PubMed - indexed for MEDLINE]Related articles

    12.

    CPT1c is localized in endoplasmic reticulum of neurons and has carnitine palmitoyltransferase activity.

    Sierra AY, Gratacós E, Carrasco P, Clotet J, Ureña J, Serra D, Asins G, Hegardt FG, Casals N.

    J Biol Chem. 2008 Mar 14;283(11):6878-85. Epub 2008 Jan 11. Erratum in: J Biol Chem. 2008 May 2;283(18):12680. PMID: 18192268 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.

    Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, Lamperti C, Bresolin N, Comi GP.

    J Neurol Sci. 2008 Mar 15;266(1-2):97-103. Epub 2007 Oct 23.PMID: 17936304 [PubMed - indexed for MEDLINE]Related articles

    14.

    Upregulation of peroxisome proliferator-activated receptor gamma coactivator gene (PGC1A) during weight loss is related to insulin sensitivity but not to energy expenditure.

    Gastaldi G, Russell A, Golay A, Giacobino JP, Habicht F, Barthassat V, Muzzin P, Bobbioni-Harsch E.

    Diabetologia. 2007 Nov;50(11):2348-55. Epub 2007 Sep 8.PMID: 17828388 [PubMed - indexed for MEDLINE]Related articles

    15.

    Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.

    Musumeci O, Aguennouz M, Comi GP, Rodolico C, Autunno M, Bordoni A, Baratta S, Taroni F, Vita G, Toscano A.

    Neuromuscul Disord. 2007 Dec;17(11-12):960-3. Epub 2007 Jul 24.PMID: 17651973 [PubMed - indexed for MEDLINE]Related articles

    16.

    Role of AMP kinase and PPARdelta in the regulation of lipid and glucose metabolism in human skeletal muscle.

    Krämer DK, Al-Khalili L, Guigas B, Leng Y, Garcia-Roves PM, Krook A.

    J Biol Chem. 2007 Jul 6;282(27):19313-20. Epub 2007 May 11.PMID: 17500064 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Definition by functional and structural analysis of two malonyl-CoA sites in carnitine palmitoyltransferase 1A.

    López-Viñas E, Bentebibel A, Gurunathan C, Morillas M, de Arriaga D, Serra D, Asins G, Hegardt FG, Gómez-Puertas P.

    J Biol Chem. 2007 Jun 22;282(25):18212-24. Epub 2007 Apr 23.PMID: 17452323 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Lack of association of CPT1A polymorphisms or haplotypes on hepatic lipid content or insulin resistance in Japanese individuals with type 2 diabetes mellitus.

    Hirota Y, Ohara T, Zenibayashi M, Kuno S, Fukuyama K, Teranishi T, Kouyama K, Miyake K, Maeda E, Kasuga M.

    Metabolism. 2007 May;56(5):656-61.PMID: 17445541 [PubMed - indexed for MEDLINE]Related articles

    19.

    Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

    Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, Shalev SA.

    J Inherit Metab Dis. 2007 Apr;30(2):266. Epub 2007 Feb 15.PMID: 17372854 [PubMed - indexed for MEDLINE]Related articles

    20.

    Triglyceride:high-density lipoprotein cholesterol effects in healthy subjects administered a peroxisome proliferator activated receptor delta agonist.

    Sprecher DL, Massien C, Pearce G, Billin AN, Perlstein I, Willson TM, Hassall DG, Ancellin N, Patterson SD, Lobe DC, Johnson TG.

    Arterioscler Thromb Vasc Biol. 2007 Feb;27(2):359-65. Epub 2006 Nov 16.PMID: 17110604 [PubMed - indexed for MEDLINE]Related articlesFree article

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