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.

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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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Diabetes 2

Diabetes 2

Diabetes is a disease that affects the way your body uses food. Normally, your body converts sugars, starches and other foods into a form of sugar called glucose. Your body uses glucose for fuel. The cells receive the glucose through the bloodstream. They then use insulin a hormone made by the pancreas to absorb the glucose, convert it into energy, and either use it or store it for later use. Learn more...

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