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Zhou, V. CPT1A Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5268 (accessed on 22 September 2026).
Zhou V. CPT1A Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5268. Accessed September 22, 2026.
Zhou, Vicky. "CPT1A Gene" Encyclopedia, https://encyclopedia.pub/entry/5268 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CPT1A Gene. In Encyclopedia. https://encyclopedia.pub/entry/5268
Zhou, Vicky. "CPT1A Gene." Encyclopedia. Web. 24 December, 2020.
CPT1A Gene
Edit

carnitine palmitoyltransferase 1A

genes

References

  1. Akkaoui M, Cohen I, Esnous C, Lenoir V, Sournac M, Girard J, Prip-Buus C.Modulation of the hepatic malonyl-CoA-carnitine palmitoyltransferase 1Apartnership creates a metabolic switch allowing oxidation of de novo fatty acids.Biochem J. 2009 May 27;420(3):429-38. doi: 10.1042/BJ20081932.
  2. Bennett MJ, Boriack RL, Narayan S, Rutledge SL, Raff ML. Novel mutations inCPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase Ideficiency. Mol Genet Metab. 2004 May;82(1):59-63.
  3. Bennett MJ, Santani AB. Carnitine Palmitoyltransferase 1A Deficiency. 2005 Jul27 [updated 2016 Mar 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1527/
  4. Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. MolAspects Med. 2004 Oct-Dec;25(5-6):495-520. Review.
  5. Brown NF, Mullur RS, Subramanian I, Esser V, Bennett MJ, Saudubray JM,Feigenbaum AS, Kobari JA, Macleod PM, McGarry JD, Cohen JC. Molecularcharacterization of L-CPT I deficiency in six patients: insights into function ofthe native enzyme. J Lipid Res. 2001 Jul;42(7):1134-42.
  6. Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, SaudubrayJM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L. Organization of the human liver carnitinepalmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations inhypoketotic hypoglycaemia. Hum Genet. 2002 Aug;111(2):179-89.
  7. Gobin S, Thuillier L, Jogl G, Faye A, Tong L, Chi M, Bonnefont JP, Girard J,Prip-Buus C. Functional and structural basis of carnitine palmitoyltransferase 1Adeficiency. J Biol Chem. 2003 Dec 12;278(50):50428-34.
  8. Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transportand the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006 May15;142C(2):77-85. Review.
  9. Prasad C, Johnson JP, Bonnefont JP, Dilling LA, Innes AM, Haworth JC, BeischelL, Thuillier L, Prip-Buus C, Singal R, Thompson JR, Prasad AN, Buist N, GreenbergCR. Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in NorthAmerican Hutterites (Canadian and American): evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program. Mol GenetMetab. 2001 May;73(1):55-63.
  10. Ramsay RR, Zammit VA. Carnitine acyltransferases and their influence on CoApools in health and disease. Mol Aspects Med. 2004 Oct-Dec;25(5-6):475-93.Review.
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Update Date: 24 Dec 2020
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