References

1. L. van Bogaert, I. Bertrand, Sur une idiote familiale avec degenerescence spongieuse de neuraxe (note preliminaire). Acta Neurol. Belg, 12, 572-587 (1949).

2. G. R. Hogan, E. P. Richardson, Jr., Spongy degeneration of the nervous system (Canavan's disease). Pediatrics, 35, 284-294 (1965).

3. H. Pratt, Canavan's disease and spongiform encephalopathy. Br. Med. J., 4 (837), 427 (1972).

4. M. Adachi, L. Schneck, J. Cara and B. W. Volk, Spongy degeneration of the central nervous system (van Bogaert and Bertrand type; Canavan's disease). A review. Hum. Pathol., 4 (3), 331-347 (1973).

5. E. C. Traeger, I. Rapin, The clinical course of Canavan disease. Pediatr. Neurol., 18 (3), 207-212 (1998).

6. B. J. Zeng, Z. H. Wang, L. A. Ribeiro, P. Leone, R. De Gasperi, S. J. Kim, S. Raghavan, E. Ong, G. M. Pastores and E. H. Kolodny, Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. J. Inherit. Metab Dis., 25 (7), 557-570 (2002).

7. S. Kamoshita, I. Rapin, K. Suzuki and K. Suzuki, Spongy degeneration of the brain. A chemical study of two cases including isolation and characterization of myelin. Neurology, 18 (10), 975-985 (1968).

8. R. Matalon, R. Kaul and K. Michals, Canavan disease: biochemical and molecular studies. J. Inherit. Metab. Dis., 16, 744-752 (1993).

9. R. Matalon, K. Michals and R. Kaul, Canavan disease: from spongy degeneration to molecular analysis. J Pediatr., 127 (4), 511-517 (1995).

10. R. Matalon, P. L. Rady, K. A. Platt, H. B. Skinner, M. J. Quast, G. A. Campbell, K. Matalon, J. D. Ceci, S. K. Tyring, M. Nehls, S. Surendran, J. Wei, E. L. Ezell and S. Szucs, Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system. J. Gene Med., 2 (3), 165-175 (2000).

11. S. Surendran, K. M. Matalon, S. Szucs, S. K. Tyring and R. Matalon, Metabolic changes in the knockout mouse for Canavan's disease: implications for patients with Canavan's disease. J. Child Neurol., 18 (9), 611-615 (2003).

12. S. Surendran, E. L. Ezell, M. J. Quast, J. Wei, S. K. Tyring, K. Michals-Matalon and R. Matalon, Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency. Neurosci. Lett., 358 (1), 29-32 (2004).

13. S. Surendran, G. A. Campbell, S. K. Tyring and R. Matalon, Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse. Neurobiol. Dis., 18 (2), 385-389 (2005).

14. S. Kamoshita, I. Rapin, K. Suzuki and K. Suzuki, Spongy degeneration of the brain. A chemical study of two cases including isolation and characterization of myelin. Neurology, 18 (10), 975-985 (1968).

15. L. Hagenfeldt, I. Bollgren and N. Venizelos, N-acetylaspartic aciduria due to aspartoacylase deficiency- a new aetiology of childhood leukodystrophy. J. Inherit. Metab. Dis., 10, 135-141 (1987).

16. H. J. Wittsack, H. Kugel, B. Roth and W. Heindel, Quantitative measurements with localized 1H MR spectroscopy in children with Canavan's disease. J. Magn Reson. Imaging, 6 (6), 889-893 (1996).

17. N. Aydinli, M. Caliskan, M. Calay and M. Ozmen, Use of localized proton nuclear magnetic resonance spectroscopy in Canavan's disease. Turk. J. Pediatr., 40 (4), 549-557 (1998).

18. R. Kaul, G. P. Gao, K. Balamurugan and R. Matalon, Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nat. Genet., 5 (2), 118-123 (1993).

19. R. Matalon, K. Michals-Matalon, Molecular basis of Canavan disease. Eur. J. Paediatr. Neurol., 2 (2), 69-76 (1998).

20. A. Feigenbaum, R. Moore, J. Clarke, S. Hewson, D. Chitayat, P. N. Ray and T. L. Stockley, Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am. J. Med. Genet. A, 124 (2), 142-147 (2004).

21. M. E. Truckenmiller, M. A. Namboodiri, M. J. Brownstein and J. H. Neale, N-Acetylation of L-aspartate in the nervous system: differential distribution of a specific enzyme. J. Neurochem., 45, 1658-1662 (1985).

22. A. F. D'Adamo, Jr., J. C. Smith and C. Woiler, The occurrence of N-acetylaspartate amidohydrolase (aminoacylase II) in the developing rat. J. Neurochem., 20 (4), 1275-1278 (1973).

23. J. R. Moffett, M. A. Namboodiri, C. B. Cangro and J. H. Neale, Immunohistochemical localization of N-acetylaspartate in rat brain. Neuroreport, 2, 131-134 (1991).

24. J. R. Moffett, M. A. Namboodiri and J. H. Neale, Enhanced carbodiimide fixation for immunohistochemistry: Application to the comparative distributions of N-acetylaspartylglutamate and N-acetylaspartate immunoreactivities in rat brain. J. Histochem. Cytochem., 41, 559-570 (1993).

25. J. R. Moffett, M. A. Namboodiri, Differential distribution of N-acetylaspartylglutamate and N-acetylaspartate immunoreactivities in rat forebrain. J. Neurocytol., 24, 409-433 (1995).

26. R. Matalon, K. Michals, D. Sebesta, M. Deanching, P. Gashkoff and J. Casanova, Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease. Am. J. Med. Genet., 29, 463471 (1988).

27. M. H. Baslow, Evidence supporting a role for N-acetyl-L-aspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytical review. Neurochem. Int., 40 (4), 295-300 (2002).

28. M. H. Baslow, T. R. Resnik, Canavan disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms. J. Mol. Neurosci., 9 (2), 109-125 (1997).

29. P. Leone, C. G. Janson, L. Bilaniuk, Z. Wang, F. Sorgi, L. Huang, R. Matalon, R. Kaul, Z. Zeng, A. Freese, S. W. McPhee, E. Mee, M. J. During and L. Bilianuk, Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. Ann. Neurol., 48 (1), 27-38 (2000).

30. B. F. Kirmani, D. M. Jacobowitz and M. A. Namboodiri, Developmental increase of aspartoacylase in oligodendrocytes parallels CNS myelination. Brain Res. Dev. Brain Res., 140 (1), 105-115 (2003).

31. A. F. D'Adamo, L. I. Gidez and F. M. Yatsu, Acetyl transport mechanisms. Involvement of N-acetyl aspartic acid in de novo fatty acid biosynthesis in the developing rat brain. Exp. Brain Res., 5, 267-273 (1968).

32. A. F. D'Adamo, Jr., F. M. Yatsu, Acetate metabolism in the nervous system. N-acetyl-L-aspartic acid and the biosynthesis of brain lipids. J. Neurochem., 13 (10), 961-965 (1966).

33. R. Burri, C. Steffen and N. Herschkowitz, N-acetyl-L-aspartate is a major source of acetyl groups for lipid synthesis during rat brain development. Dev. Neurosci., 13, 403-412 (1991).

34. G. Chakraborty, P. Mekala, D. Yahya, G. Wu and R. W. Ledeen, Intraneuronal N-acetylaspartate supplies acetyl groups for myelin lipid synthesis: evidence for myelin-associated aspartoacylase. J. Neurochem. , 78 (4), 736-745 (2001).

35. V. Mehta, M. A. Namboodiri, N-acetylaspartate as an acetyl source in the nervous system. Brain Res. Mol. Brain Res., 31 (1-2), 151-157 (1995).

36. B. F. Kirmani, D. M. Jacobowitz, A. T. Kallarakal and M. A. Namboodiri, Aspartoacylase is restricted primarily to myelin synthesizing cells in the CNS: therapeutic implications for Canavan disease. Brain Res. Mol. Brain Res., 107 (2), 176-182 (2002).

37. A. F. D'Adamo, Jr., L. I. Gidez and F. M. Yatsu, Acetyl transport mechanisms. Involvement of N-acetyl aspartic acid in de novo fatty acid biosynthesis in the developing rat brain. Exp. Brain Res., 5 (4), 267273 (1968).

38. K. K. Bhakoo, T. J. Craig and P. Styles, Developmental and regional distribution of aspartoacylase in rat brain tissue. J. Neurochem, 79 (1), 211-220 (2001).

39. M. Klugmann, C. W. Symes, B. K. Klaussner, C. B. Leichtlein, T. Serikawa, D. Young and M. J. During, Identification and distribution of aspartoacylase in the postnatal rat brain. Neuroreport, 14 (14), 18371840 (2003).

40. C. N. Madhavarao, J. R. Moffett, R. A. Moore, R. E. Viola, M. A. Namboodiri and D. M. Jacobowitz, Immunohistochemical localization of aspartoacylase in the rat central nervous system. J. Comp Neurol., 472 (3), 318-329 (2004).

41. J. M. Lowenstein, Effect of (-)-hydroxycitrate on fatty acid synthesis by rat liver in vivo. J. Biol. Chem., 246 (3), 629-632 (1971).

42. C. N. Madhavarao, P. Arun, J. R. Moffett, S. Szucs, S. Surendran, R. Matalon, J. Garbern, D. Hristova, A. Johnson, W. Jiang and M. A. Namboodiri, Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease. Proc. Natl. Acad. Sci. U. S. A, 102 (14), 52215226 (2005).

43. R. L. Jungas, Fatty acid synthesis in adipose tissue incubated in tritiated water. Biochemistry, 7 (10), 3708-3717 (1968).

44. J. M. Dietschy, D. K. Spady, Measurement of rates of cholesterol synthesis using tritiated water. J. Lipid Res., 25 (13), 1469-1476 (1984).

45. E. D. Muse, H. Jurevics, A. D. Toews, G. K. Matsushima and P. Morell, Parameters related to lipid metabolism as markers of myelination in mouse brain. J. Neurochem., 76 (1), 77-86 (2001).

46. H. A. Jurevics, P. Morell, Sources of cholesterol for kidney and nerve during development. J. Lipid Res., 35 (1), 112-120 (1994).

47. J. Urenjak, S. R. Williams, D. G. Gadian and M. Noble, Specific expression of N-acetylaspartate in neurons, oligodendrocyte-type-2 astrocyte progenitors, and immature oligodendrocytes in vitro. J. Neurochem., 59, 55-61 (1992).

48. C. Bjartmar, J. Battistuta, N. Terada, E. Dupree and B. D. Trapp, N-acetylaspartate is an axon-specific marker of mature white matter in vivo: a biochemical and immunohistochemical study on the rat optic nerve. Ann. Neurol., 51 (1), 51-58 (2002).

49. S. E. Knowles, I. G. Jarrett, O. H. Filsell and F. J. Ballard, Production and utilization of acetate in mammals. Biochem. J., 142 (2), 401-411 (1974).

50. D. W. Pethick, D. B. Lindsay, P. J. Barker and A. J. Northrop, Acetate supply and utilization by the tissues of sheep in vivo. Br. J. Nutr., 46 (1), 97-110 (1981).

51. C. N. Madhavarao, C. Chinopoulos, K. Chandrasekaran and M. A. Namboodiri, Characterization of the N-acetylaspartate biosynthetic enzyme from rat brain. J. Neurochem., 86 (4), 824-835 (2003).

52. M. Yudkoff, D. Nelson, Y. Daikhin and M. Erecinska, Tricarboxylic acid cycle in rat brain synaptosomes. Fluxes and interactions with aspartate aminotransferase and malate/aspartate shuttle. J. Biol. Chem., 269 (44), 27414-27420 (1994).

53. A. Bach, P. Metais, [Fats with short and medium chains. Physiological, biochemical, nutritional, and therapeutic aspects]. Ann. Nutr. Aliment., 24 (5), 75-144 (1970).

54. L. R. Schiller, C. A. Santa Ana, M. S. Sheikh, M. Emmett and J. S. Fordtran, Effect of the time of administration of calcium acetate on phosphorus binding. N. Engl. J. Med., 320 (17), 1110-1113 (1989).

0 0

Post a comment