The Urea Cycle Disorders Consortium
Participating Clinical Centers  

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Mattel Children's Hospital at UCLA Logo

University of California at Los Angeles (UCLA)

UCLA Health Services

Mattel Children's Hospital at UCLA

 

Contact Information:

Stephen Cederbaum, MD
Principal Investigator
E-mail: scederbaum@mednet.ucla.edu

Eric Crombez, MD
Research Fellow

Naghmeh Dorrani, MS, CGC
Study Coordinator
Phone: (310) 825-8084
E-mail: ndorrani@mednet.ucla.edu

 

Current Studies:

5101: Longitudinal Study of Urea Cycle Disorders

 

List of Publications:

  1. Fiedler, A.E., Miller, M.J., Bickel, H., and Cederbaum , S.D. (1982) Phenylalanine levels in PKU following minor surgery. Am. J. Med. Genet. 11: 411-414.
  2. Cederbaum , S.D. (1984) Phenylketonuria. In Genetic Factors in Nutrition. Velazquez, A. and Bourges , H., eds., Academic Press, San Diego, pp. 79-91.
  3. Dizikes, G.J., Grody, W.W., Kern, R.M., Cederbaum, S.D. (1986) Isolation of human liver arginase cDNA and demonstration of nonhomology between the two human arginase genes. Biochem. Biophys. Res. Comm. 141: 53-59.
  4. Dizikes, G.J., Spector, E.B., Cederbaum , S.D. (1986) Cloning of rat liver arginase cDNA and elucidation of regulation of arginase gene expression in H4 rat hepatoma cells. Somat. Cell Mol. Genet. 12: 375-384.
  5. Morris, Jr., S.M., Moncman, C.L., Rand, K.D., Dizikes, G.J., Cederbaum, S.D. O'Brien, W.D.
  6. Effects of diet, cyclic AMP, and glucocorticoids on mRNA levels for five urea cycle enzymes in rat liver. Arch. Biochem. Biophys. 256: 343-353.
  7. Grody, W.W., Argyle, C., Kern, R.M., Dizikes, G.J., Spector, E.B., Strickland, A.D., Klein D., Cederbaum, S.D. (1989) Differential expression of the two human arginase genes in hyperargininemia: Enzymatic and pathologic analysis. J. Clin. Invest. 83: 602-609.
  8. Grody, W.W., Klein, D., Dodson, A.E., Kern, R.M., Bassand, P., Marescau, B., Kang, D., Leonard, J.V. and Cederbaum, S.D. (1992) Molecular genetic study of human arginase deficiency. Am. J. Hum. Genet. 50:1281-1290.
  9. Grody, W.W., Kern, R., Klein,, D., Dodson, A.E., Wissman, P., Barsky, S.H. and Cederbaum , S.D. (1993) Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme. Hum. Genet. 91:1-5.
  10. Goodman, B.K., Klein, D., Tabor, D.E., Vockley, J.G., Cederbaum , S.D. and Grody, W.W. (1994). Functional and molecular analysis of liver arginase promotor sequences from man and Macaca fascicularis. Somatic Cell and Mol. Genet. 20: 313-325.
  11. Grody, W.W., Chang, R.J., Panagiotis, N.M., Matz, D. and Cederbaum, S.D. (1994) Menstrual Cycle and Gonadal Steroid Effects on Symptomatic Hyperammonemia of Urea Cycle-Based and Idiopathic Etiologies. J. Inher. Metab. Dis. 17: 566-574.
  12. Vockley, J.G., Tabor, D.E., Kern, R.M., Goodman, B.K., Wissman, P.W., Kang, D.S. Grody, W.W. and Cederbaum, S.D. (1994) Identification of mutations in the liver arginase gene of patients with hyperarginininemia. Hum. Mutation, 4: 150-154.
  13. Wang, W.W., Jenkinson, C.P., Griscavage, J.M., Kern, R.M., Arabolos, N.S., Byrns, R.E., Cederbaum, S.D., and Ignarro, L.J. (1995) Co-induction of arginase and nitric oxide synthase in murine macrophages activated by lipopolysaccharide. Biochem. Biophys. Res. Comm. 210: 1009-1016.
  14. Buga, G.M., Singh, R., Pervin, S., Jenkinson, C.P., Cederbaum, S.D., Ignarro, L.J. (1996) Arginase activity in endothelial cell: Inhibition by N-hydroxyarginine during high-output nitric oxide production. Amer. J. Physiol. 271: H1988-H1998.
  15. Vockley, J.G., Jenkinson, C.P., Shuklal, H., Kern, R.M., Grody, W.W., Cederbaum, S.D. (1996) Cloning and characterization of the human type II arginase gene. Genomics 38: 118-123.
  16. Ash, D.E., Scolnick, L.R., Kanyo, Z.F., Vockley, J.G., Cederbaum, S.D., Christianson, D.W. (1998) Molecular basis of argininemia: structure-function consequences of mutations in human liver arginase. Mol. Genet. Metab. 64: 243-249.
  17. Iyer, R.K., Bando, J.M., Jenkinson, C.P., Vockley, J.G., Kim, P.S., Kern, R.M., Cederbaum, S.D., Grody, W.W. (1998) Cloning and characterization of the mouse and rat type II arginase genes. Mol. Genet. Metab. 63: 168-175.
  18. Singh, R. Pervin, S., Karimi, A., Cederbaum, S. and Chaudhari, G. Arginase activity in human breast cancer cell lines: N-hydroxy arginine selectively inhibits cell proliferation and induces apoptosis in MDA-MB 468 cell. Cancer Res. 60: 3305 - 3312, 2000.
  19. Cederbaum, J.A., LeMons, C., Rosen, M., Ahrens, M., Vonachan, S., Varner, M. and Cederbaum, S.D. Psychosocial issues and coping strategies in families affected by urea cycle disorders. J.Pediatr., S72-S80, 2001.
  20. Iyer, R.K., Kim, H.K., Tsoa, R.W., Grody, W.W. and Cederbaum, S.D. Cloning and characterization of human agmatinase. Mol. Genet. Metab. 75: 209-218, 2002.
  21. Yu, H., Iyer, R.K., Yoo, P.K., Kern, R.M., Grody, W.W. and Cederbaum, S.D. Arginase expression in mouse embryonic development. Mech. Devel. 115: 151-155, 2002.
  22. Gobert, A.P., Cheng, Y., Wang, J-Y., Boucher, J-L., Iyer, R.K., Cederbaum, S.D., Casero, Jr., R.A., Newton, J.C., Wilson, K.W. Helicobacter pylori induces macrophage apoptosis by activation of arginase II. J. Immunol. 168: 4692-4700, 2002
  23. Kim, P.S., Iyer, R.K., Lu, K.V., Karemi, A., Kern, R.M., Tai, D., Cederbaum, S.D. and Grody, W.W. Expression of Macaca fascicularis liver arginase in erythrocytes. Mol. Genet. Metab. 76: 100-110, 2002.
  24. Mardach, R., Zempleni, J., Wolf, B., Cress, S., Boylan, J., Roth, S., Cederbaum, S. and Mock, D. Biotin dependency due to a defect in biotin transport. J. Clin. Invest. 109: 1617-1623, 2002.
  25. Cederbaum, S.D. and Scriver, C.R. (2003) Disorders of phenylalanine and tyrosine metabolism. In, Goldman, L. and Bennett, J.C., et al , eds Cecil Textbook of Medicine, 22 nd edition. Saunders, Philadelphia , Chapter 218, pp. 1282-1284. Revision for 23rd edition submitted (2005).
  26. Cederbaum, S.D. Disorders of the Urea Cycle. (2003) In, Goldman, L. and Bennett, J.C. op cit Chapter 220, pp. 1286-1288. Revision for 23rd edition submitted (2005).
  27. Cederbaum, S.D. (2002) Phenylketonuria: an update, in Current Opinion in Pediatrics. 14: 702-706.
  28. Cederbaum, S.D., Koo-McCoy, S., Tein, I., Hsu, B.Y.L., Ganguly, A., Vilain E., Dipple, K., CvitanovicSojat, L., Stanley, C. Carnitine membrane transporter Deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol. Genet. Metab77: 195-201, 2002. Addendum, 78: 82, 2003
  29. Picker, J.D., Puga, A.C., Levy, H.L., Marsden, D, Shih, V.E., DeGirolami, U., Ligon, K.L., Cederbaum, S.D. Kern R.M. and Cox, G.F. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J. Pediatr. 142: 349-352, 2003.
  30. Cederbaum, S.D., Yu, H., Grody, W.W., Kern, R.M., Yoo, P.K., Iyer, R.K. Arginases I and II: do their functions overlap? Mol. Gen. Metab. 81 (suppl 1): S38-S44, 2004.
  31. Crombez, E.A. and Cederbaum, S.D. Hyperargininemia due to liver arginase deficiency. Mol. Genet. Metab. 84: 243-251, 2005
  32. Cederbaum, S. Arginase deficiency. In GeneReviews at GeneTests: Medical GeneticsInformation Resource (database online). Copyright, University of Washington, Seattle, 1997-2004. Available at http://www.genetests.org. 2000.