Advertisement

Complex Lipid Catabolism

  • Roscoe O. Brady
  • Roscoe O. BradyJr.

Keywords

Sialic Acid Fabry Disease Gauche Disease Hydrolytic Cleavage Metachromatic Leukodystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Austin, J.H. et al. (1963) A controlled study of enzymatic activities in three human disorders of glycolipid metabolism. J. Neurochem. 10, 805-816.CrossRefPubMedGoogle Scholar
  2. Brady, R.O. (1966) The sphingolipidoses. N. Engl. J. Med. 275, 312-318.PubMedCrossRefGoogle Scholar
  3. Brady, R.O., and Koval, G.J. (1957) Biosynthesis of sphingosine in vitro. J. Am. Chem. Soc. 79, 2648-2649.CrossRefGoogle Scholar
  4. Brady, R.O. et al. (1966a) Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher’s disease. J. Clin. Invest. 45, 1112-1115.CrossRefGoogle Scholar
  5. Brady, R.O. et al. (1966b) The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc. Natl. Acad. Sci. USA 55, 366-369.CrossRefGoogle Scholar
  6. Brady, R.O. et al. (1967a) The metabolism of ceramidetrihexosides. I. Purification and properties of an enzyme which cleaves the terminal galactose molecule of galactosylgalactosylglucosylceramide. J. Biol. Chem. 242, 1021-1026.Google Scholar
  7. Brady, R.O. et al. (1967b) Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficency. N. Engl. J. Med., 276, 1163-1167.Google Scholar
  8. Brady, R.O., Kanfer, J.N., and Shapiro, D. (1965) Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem. Biophys. Res. Commun. 18, 221-225.CrossRefPubMedGoogle Scholar
  9. Conzelmann, E., and Sandhoff, K. (1978) AB variant of infantile GM2 gangliosidosis: Deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. Proc. Natl. Acad. Sci. USA 75, 3979-3983.CrossRefPubMedGoogle Scholar
  10. Dale, G.E., Villacorte, D., and Beutler, E. (1976) Solubilization of glucocerebrosidase from human placenta and demonstration of a phospholipid requirement for its catalytic activity. Biochem. Biophys. Res. Commun. 71, 1048-1053.CrossRefPubMedGoogle Scholar
  11. Durand, F. et al. (1968) Fucosidosis. Lancet 1, 1198.CrossRefGoogle Scholar
  12. Harzer, K. et al. (1989) Sphingolipid activator protein deficiency in a16-week-old atypical Gaucher disease patient and his fetal sibling: Biochemical signs of combined sphingolipidoses. Eur. J. Pediatr. 149, 31-39.CrossRefPubMedGoogle Scholar
  13. Ho, M.W., and O’Brien, J.S. (1971), Gaucher’s disease; Deficiency of‘acid’ β-glucosidase and reconstitution of enzyme activity in vitro. Proc. Natl. Acad. Sci. USA, 68, 2810-2813.CrossRefPubMedGoogle Scholar
  14. Kanfer, J.N., Young, O.M., Shapiro, D., and Brady, R.O. (1966) The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue. J. Biol. Chem. 241, 1081-1084.PubMedGoogle Scholar
  15. Kattlove, H.E. et al. (1969) Gaucher cells in chronic myelocytic leukemia: An acquired abnormality. Blood 33, 379-390.PubMedGoogle Scholar
  16. Kolodny, E.H., Brady, R.O., and Volk, B.W. (1969b) Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease. Biochem. Biophys. Res. Commun. 37: 526-531.CrossRefGoogle Scholar
  17. Kolodny, E.H., Brady, R.O., Quirk, J.M., and Kanfer, J.N. (1969a) Studies on the metabolism of Tay-Sachs ganglioside. Fed. Proc. 28, 596.Google Scholar
  18. Lieb, H. (1924) Cerebrosidespeicherung bei Splenomegalie Typus Gaucher. Ztschr. Physiol. Chem. 140, 305-313.Google Scholar
  19. Mehl, E., and Jatzkewitz, H. (1965) Evidence for the genetic block in metachromatic leukodystrophy (ML). Biochem. Biophys. Res. Commun. 19, 407-411.CrossRefPubMedGoogle Scholar
  20. Nilsson, O., and Svennerholm, L. (1982) Characterization and quantitative determination of gangliosides and neutral glycosphingolipids in human liver. J. Lipid Res. 23, 327-334.PubMedGoogle Scholar
  21. Ohshima, T., et al. (1999) Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice. Proc. Natl. Acad. Sci. USA, 96, 6423-6427.CrossRefPubMedGoogle Scholar
  22. Okada, S., and O’Brien, J.S. (1968) Generalized gangliosidosis: Beta-galactosidase deficiency. Science 160, 1002-1004.CrossRefPubMedGoogle Scholar
  23. Okada, S., and O’Brien, J. (1969) Tay-Sachs disease: Generalized absence of a beta-d-N-acetylhexosaminidase component. Science, 165, 698-700.CrossRefPubMedGoogle Scholar
  24. Robinson, D., and Stirling, J. (1967) N-acetyl-β-glucosaminidases in human spleen. Biochem. J. 107, 321-327.Google Scholar
  25. Sandhoff, K., Andreae, U., and Jatzkewitz, H. (1968) Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Pathol. Eur, 3, 278-285.PubMedGoogle Scholar
  26. Sandhoff, K., et al. (1971) Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J. Neurochem. 18, 2469-2489.CrossRefPubMedGoogle Scholar
  27. Sandhoff, K., Kolter, T., and Harzer, K. (2001) Sphingolipid activator proteins. In: The Metabolic & Molecular Bases of Inherited Disease, C.R. Scriver, A.L Beaudet, W.S. Sly, and D. Valle, Eds., New York: McGraw-Hill, pp. 3371-3388.Google Scholar
  28. Sugita, M., Dulaney, J.T., and Moser, H.W. (1972) Ceramidase deficiency in Farber’s disease (lipogranulomatosis). Science 178,1100-1102.CrossRefPubMedGoogle Scholar
  29. Suzuki, K., and Suzuki, Y. (1970) Globoid cell leukodystrophy (Krabbe’s disease): Deficiency of galactocerebroside β-galactosidase. Proc. Natl. Acad. Sci. USA 66, 302-309.CrossRefPubMedGoogle Scholar
  30. Sweeley, C.C., and Klionsky, B. (1963) Fabry’s disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid. J. Biol. Chem. 238, PC3148-PC3150.Google Scholar
  31. Tallman, J.F., Johnson, W.G., and Brady, R.O. (1972) The metabolism of Tay-Sachs ganglioside: Catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue. J. Clin. Invest. 51: 2339-2345.CrossRefPubMedGoogle Scholar
  32. Thudicum, J.L.W. (1901) Die chemische Konstitution des Gehirns des Menschen und der Tiere. Tübingen: Pietziker.Google Scholar
  33. Trams, E.G., and Brady, R.O. (1960) Cerebroside synthesis in Gaucher’s disease. J. Clin. Invest. 39, 1546-1550.CrossRefPubMedGoogle Scholar
  34. Van Hoof, F., and Hers, H.G. (1968) Mucopolysaccharidosis by absence of α-fucosidase. Lancet, 1, 1198.CrossRefPubMedGoogle Scholar
  35. Wenger, D.A., Tarby, T.J., and Wharton, C. (1978) Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies. Biochem. Biophys. Res. Commun. 82, 589-595.CrossRefPubMedGoogle Scholar
  36. Yamakawa, T., Yokoyama, S., and Handa, N. (1963) Chemistry of lipids of posthemo-lytic residue or stroma of erythrocytes. XI. Structure of globoside, the main mucolipid of human erythrocytes. J. Biochem. (Tokyo), 53, 28-36.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Roscoe O. Brady
    • 1
  • Roscoe O. BradyJr.
    • 2
  1. 1.National Institute of Neurological Disorders and strokeNational Institutes of HealthBethesdaUSA
  2. 2.Department of PsychiatryMassachusetts General HospitalBostonUSA

Personalised recommendations