References

1. McGarry, J.D.; Woeltje, K.F.; Kuwajima, M. & Foster, D.W. (1989) Diabetes Metab. Rev. 5, 271-284; Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase.

2. Britton, C.H.; Schultz, R.A.; Zhang, B.; Esser, V.; Foster, D.W. & McGarry, J.D. (1995) Proc. Natl. Acad. Sci. U. S. A. 92, 1984-1988; Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.

3. Brown, N.F.; Esser, V.; Foster, D.W. & McGarry, J.D. (1994) J. Biol. Chem. 269, 26438-26442; Expression of a cDNA for rat liver carnitine palmitoyltransferase I in yeast establishes that catalytic activity and malonyl-CoA sensitivity reside in a single polypeptide.

4. Demaugre, F.; Bonnefont, J.P.; Cepance, C; Scholte, J.; Saudubray, J.M. & Leroux, J.P. (1990) Pediatr. Res. 27, 497-500; Immunoquantitative Analysis of Human Carnitine Palmitoyltransferase I and II Defects.

5. Esser, V.; Britton, C.H.; Weis, B.C.; Foster, D.W. & McGarry, J.D. (1993) J. Biol. Chem. 268, 5817-5822; Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I. Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function.

6. Finocchiaro, G.; Taroni, F.; Rocchi, M.; Martin, A.L.; Colombo, I.; Tarelli, G.T. & DiDonato, S. (1991) Proc. Natl. Acad. Sci. U. S. A. 88, 661-665; cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.

7. Weis, B.C.; Esser, V.; Foster, D.W. & McGarry, J.D. (1994) J. Biol. Chem. 269, 18712-18715; Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I. The minor component is identical to the liver enzyme.

8. Woeltje, K.F.; Esser, V.; Weis, B.C.; Sen, A.; Cox, W.F.; McPhaul, M.J.; Slaughter, C.A.; Foster, D.W. & McGarry, J.D. (1990) J. Biol. Chem. 265, 10720-10725; Cloning, sequencing, and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II.

9. Woeltje, K.F.; Esser, V.; Weis, B.C.; Cox, W.F.; Schroeder, J.G.; Liao, S.T.; Foster, D.W. & McGarry, J.D. (1990) J. Biol. Chem. 265, 10714-10719; Inter-tissue and inter-species characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system.

10. Demaugre, F.; Bonnefont, J.P.; Colonna, M.; Cepanec, C.; Leroux, J.P. & Saudubray, J.M. (1991) J. Clin. Invest. 87, 859-864; Infantile Form of Carnitine Palmitoyltransferase II Deficiency with Hepatomuscular Symptoms and Sudden Death.

11. Hug, G. & Soukoup, S. (1991) New Engl& J. Med. 325, 1862-1864; Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II.

12. Taroni, F; Verderio, E.; Garavaglia, B.; Fiorucci, S.; Finocchiaro, G.; Uziel, G. & DiDonato, S. (1992) New Development in Fatty Oxidation (Coates, P.M. & Tanaka, K. eds) pp. 521-531, Wiley-Liss. New York.

13. Hug, G.; Soukup, S.; Berry, H. & Bove, K.E. (1989). Pediatr. Res. 25, 115A (Abstract); Carnitine palmitoyl transferase (CPT): deficiency of CPT II but not of CPT I with reduced total and free carnitine but increased acylcarnitine.

14. Land, J.M.; Mistry, S.; Squier, M.; Hope, P.; Ghadiminejad, I.; Orford, M. & Saggerson, D. (1995) Neuromuscular Disorders 5, 129-137; Neonatal Carnitine Pamitoyltransferase-2 Deficiency; a Case Presenting with Myopathy.

15. Brown, N.F.; Esser, V.; Gonzalez, A.D.; Evans, C.T.; Slaughter, C.A.; Foster, D.W. & McGarry, J.D. (1991) J. Biol. Chem. 266, 15446-15449; Mitochondrial import and processing of rat liver carnitine palmitoyltransferase II defines the amino terminus of the mature protein. Possibility of differential modification of the rat and human isoforms.

16. Woeltje, K.F.; Kuwajima, M.; Foster, D.W. & McGarry, J.D. (1987) J. Biol. Chem. 262, 9822-9827; Characterization of the Mitochondrial Carnitine Palmitoyltranferase Enzyme System.

17. McGarry, J.D., Brown, N.F., Inthanousay, P.P., Park, D.I., Cook, B.A., & Foster, D.W. (1992) Insights into the topography of mitochondrial carnitine Palmitoyltransferase gained from the use of proteases. New developments in fatty acid oxidation (Coates, P.M. & Tanaka, K. eds) pp. 47-61, Wiley-Liss. Inc, New York.

18. Bieber, L.L. & Farrell, S. (1983) Carnitine acyltransferases. The Enzymes (Boyer, P.D. ed) pp. 627-644, Academic Press, New York.

19. Trevisan, C.P.; Angelini, C.; Freddo, L.; Isaya, G. & Martinuzzi, A. (1984) Neurology 34, 353-356; Myoglobinuria and carnitine palmitoyltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

20. Scholte, H.R.; Jennekens, F.G. & Bouvy, J.J. (1979) J. Neurol. Sci. 40, 39-51; Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leukocytes.

21. Meola, G.; Bresolin, N.; Rimoldi, M.; Velicogna, M.; Fortunate, F. & Scarlato, G. (1987) J. Neural. 235, 74-79; Recessive carnitine palmitoyl transferase deficiency: biochemical studies in tissue cultures and platelets.

22. Zierz, S. & Engel, A.G. (1985) Eur. J. Biochem. 149, 207-214; Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle.

23. Verderio, E.; Cavadini, P.; Montermini, L.; Wang, H.; Lamantea, E.; Finocchiaro, G.; DiDonato, S.; Gellera, C. & Taroni, F. (1995) Hum. Mol. Genet. 4, 19-29; Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.

24. Taroni, F.; Verderio, E.; Dworzak, F.; Willems, P.J.; Cavadini, P. & DiDonato, S. (1993) Nature Genetics 4, 314—319; Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

25. Hawkins, J.D. (1988) Nucleic Acid Research 16, 9893-9908; A survey on intron and exon lengths.

26. Wieser, T; Deschauer, M. & Zierz, S. (1997) J. Mol. Med. 75, B51 (Abstract); Carnitine Palmitoyltransferase II Deficiency: Three Novel Mutations.

27. Bonnefont, J.P.; Taroni, F.; Cavadini, P.; Cepanec, C.; Brivet, M.; Saudubray, J.M.; Leroux, J.P. & Demaugre, F. (1996) Am. J. Hum. Genet. 58, 971-978; Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

28. Yamamoto, S.; Abe, H.; Kohgo, T; Ogawa, A.; Ohtake, A.; Hayashibe, H.; Sakuraba, H.; Suzuki, Y; Aramaki, S.; Takayanagi, M.; Hasegawa, S. & Niimi, H. (1996) Hum. Genet. 98, 116-118; Two novel gene mutations (Glul74-»Lys, Phe383-»Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency.

29. Taroni, F.; Verderio, E.; Fiorucci, S.; Cavadini, P.; Finocchiaro, G.; Uziel, G.; Lamantea, E.; Gellera, C. & DiDonato, S. (1992) Proc. Nat. Acad. Sci., U.S.A. 89, 8429-8433; Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

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