Stephen Cederbaum

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Newborn screening 50 years later: access issues faced by adults with PKU
    Susan A Berry
    Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA
    Genet Med 15:591-9. 2013
  2. pmc Bone marrow cell derived arginase I is the major source of allergen-induced lung arginase but is not required for airway hyperresponsiveness, remodeling and lung inflammatory responses in mice
    Kathryn A Niese
    Division of Allergy and Immunology, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
    BMC Immunol 10:33. 2009
  3. ncbi request reprint Molecular diagnosis and inborn errors of metabolism: a practitioner's view
    S Cederbaum
    Department of Psychiatry, Mental Retardation Research Center, UCLA, Los Angeles, California 90024 1759, USA
    Genet Med 2:345-9. 2000
  4. ncbi request reprint New frontiers in hereditary metabolic disease: an historical perspective
    Stephen D Cederbaum
    Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Mol Genet Metab 87:184-9. 2006
  5. ncbi request reprint Phenylketonuria: an update
    Stephen Cederbaum
    Departments of Psychiatry, Pediatrics and Human Genetics, and the Mental Retardation Research Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90024 1759, USA
    Curr Opin Pediatr 14:702-6. 2002
  6. ncbi request reprint Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency
    Stephen D Cederbaum
    Department of Psychiatry, UCLA, 760 Westwood Plaza, Los Angeles, CA 90024 1759, USA
    Mol Genet Metab 77:195-201. 2002
  7. ncbi request reprint Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia
    Joshua L Deignan
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA
    Mol Genet Metab 93:172-8. 2008
  8. ncbi request reprint Polyamine homeostasis in arginase knockout mice
    Joshua L Deignan
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 1732, USA
    Am J Physiol Cell Physiol 293:C1296-301. 2007
  9. ncbi request reprint Arginase expression in mouse embryonic development
    Hong Yu
    Mental Retardation Research Center, UCLA, 760 Westwood Plaza, Los Angeles, CA 90024 1759, USA
    Mech Dev 115:151-5. 2002
  10. pmc A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester, School of Medicine and Dentistry, Rochester, NY 14642, USA
    Mol Genet Metab 96:85-90. 2009

Collaborators

Detail Information

Publications38

  1. pmc Newborn screening 50 years later: access issues faced by adults with PKU
    Susan A Berry
    Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA
    Genet Med 15:591-9. 2013
    ....
  2. pmc Bone marrow cell derived arginase I is the major source of allergen-induced lung arginase but is not required for airway hyperresponsiveness, remodeling and lung inflammatory responses in mice
    Kathryn A Niese
    Division of Allergy and Immunology, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
    BMC Immunol 10:33. 2009
    ..Arginase is significantly upregulated in the lungs in murine models of asthma, as well as in human asthma, but its role in allergic airway inflammation has not been fully elucidated in mice...
  3. ncbi request reprint Molecular diagnosis and inborn errors of metabolism: a practitioner's view
    S Cederbaum
    Department of Psychiatry, Mental Retardation Research Center, UCLA, Los Angeles, California 90024 1759, USA
    Genet Med 2:345-9. 2000
    ..This discussion addresses the uses and "abuses" of recombinant DNA technology in the field, and areas of greater or lesser usefulness in current practice, and the future, are discussed...
  4. ncbi request reprint New frontiers in hereditary metabolic disease: an historical perspective
    Stephen D Cederbaum
    Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Mol Genet Metab 87:184-9. 2006
  5. ncbi request reprint Phenylketonuria: an update
    Stephen Cederbaum
    Departments of Psychiatry, Pediatrics and Human Genetics, and the Mental Retardation Research Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90024 1759, USA
    Curr Opin Pediatr 14:702-6. 2002
    ..The excitement surrounding the continued exploration of the hyperphenylalaninemias is emphasized...
  6. ncbi request reprint Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency
    Stephen D Cederbaum
    Department of Psychiatry, UCLA, 760 Westwood Plaza, Los Angeles, CA 90024 1759, USA
    Mol Genet Metab 77:195-201. 2002
    ..The 13/19bp insertions were found in both parents, predominantly in cis with the deletion, and rarely seen with normal alleles from either parents or controls...
  7. ncbi request reprint Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia
    Joshua L Deignan
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA
    Mol Genet Metab 93:172-8. 2008
    ....
  8. ncbi request reprint Polyamine homeostasis in arginase knockout mice
    Joshua L Deignan
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 1732, USA
    Am J Physiol Cell Physiol 293:C1296-301. 2007
    ..These results suggest that endogenous arginase-derived ornithine may not directly contribute to polyamine homeostasis in mice. Alternate sources such as diet may provide sufficient polyamines for maintenance in mammalian tissues...
  9. ncbi request reprint Arginase expression in mouse embryonic development
    Hong Yu
    Mental Retardation Research Center, UCLA, 760 Westwood Plaza, Los Angeles, CA 90024 1759, USA
    Mech Dev 115:151-5. 2002
    ..The strong AI expression in the peripheral nervous system suggests that the pathogenesis of the neurological retardation in AI deficiency may be conditioned by AI deficiency in the nervous system during embryonic development...
  10. pmc A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester, School of Medicine and Dentistry, Rochester, NY 14642, USA
    Mol Genet Metab 96:85-90. 2009
    ..This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for VLCAD deficiency until evidence-based guidelines are available...
  11. pmc Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation
    John M Ringman
    Mary S Easton Center for Alzheimer s Disease Research, UCLA Department of Neurology, Los Angeles, CA, United States
    Neurosci Lett 487:287-92. 2011
    ..We describe biochemical, imaging, and neuropathological changes in a pedigree with a novel PSEN1 mutation. This allows us to validate the pathogenicity of this mutation and the indices used to assess AD...
  12. doi request reprint Mosaicism for trisomy 21 in a patient with young-onset dementia: a case report and brief literature review
    John M Ringman
    Alzheimer s Disease Research Center, Department of Neurology, University of California, Los Angeles, 10911 Weyburn Ave, Ste 200, Los Angeles, CA 90095 7226, USA
    Arch Neurol 65:412-5. 2008
    ..To describe a case of young-onset Alzheimer disease (AD) due to mosaicism for trisomy 21...
  13. doi request reprint 45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?
    Christina Lam
    Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA, USA
    Mol Genet Metab 103:338-40. 2011
    ..We hypothesize that propionic acidemia may have contributed to these complications, and discuss several possible mechanisms for this, emphasizing mainly the electron transport chain/mitochondrial energy deficiency hypothesis...
  14. ncbi request reprint Ornithine deficiency in the arginase double knockout mouse
    Joshua L Deignan
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Mol Genet Metab 89:87-96. 2006
    ..Although most human AI-deficient patients have no symptomatic hyperammonemia at birth, it is possible that clinically significant ornithine deficiency is already present...
  15. pmc Mouse model for human arginase deficiency
    Ramaswamy K Iyer
    Department of Pathology and Laboratory Medicine and the Mental Retardation Research Center, University of California Los Angeles School of Medicine, Los Angeles, California 90095 1732, USA
    Mol Cell Biol 22:4491-8. 2002
    ....
  16. ncbi request reprint Cloning and characterization of human agmatinase
    Ramaswamy K Iyer
    Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095 1732, USA
    Mol Genet Metab 75:209-18. 2002
    ..It has 56% similarity to E. coli agmatinase and 42% similarity to human arginases I and II and shares highly conserved substrate-binding domains with these well-characterized enzymes...
  17. doi request reprint An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency
    Fabiola Quintero-Rivera
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Mol Genet Metab 101:413-6. 2010
    ....
  18. pmc Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vector
    Chia Ling Gau
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Mol Ther 17:1155-63. 2009
    ..These studies demonstrate that the AI deficient newborn mouse can be temporarily corrected and rescued using a HDV...
  19. ncbi request reprint A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA
    Mol Genet Metab 93:363-70. 2008
    ..This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for 3-MCC deficiency and to encourage the development of evidence-based guidelines...
  20. ncbi request reprint Disruption of arginase II alters prostate tumor formation in TRAMP mice
    Shannon M Mumenthaler
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California 90095 1732, USA
    Prostate 68:1561-9. 2008
    ..However, the biological function of arginase II in prostate cancer still remains to be elucidated. In this study, we utilized the TRAMP mouse prostate cancer model to better understand the contribution of AII on tumor development...
  21. ncbi request reprint Arginases I and II: do their functions overlap?
    Stephen D Cederbaum
    Department of Psychiatry, David Geffen School of Medicine at the University of California, Los Angeles, USA
    Mol Genet Metab 81:S38-44. 2004
    ..Finally, prenatal diagnosis appears to be possible as was predicted, but never proven, some years ago...
  22. ncbi request reprint Widespread expression of arginase I in mouse tissues. Biochemical and physiological implications
    Hong Yu
    Mental Retardation Research Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90095 1732, USA
    J Histochem Cytochem 51:1151-60. 2003
    ....
  23. pmc Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate
    George A Diaz
    Mount Sinai School of Medicine, Department of Genetics and Genomic Sciences, Department of Pediatrics, New York, NY, USA
    Hepatology 57:2171-9. 2013
    ....
  24. ncbi request reprint Expanded newborn screening identifies maternal primary carnitine deficiency
    Lisa A Schimmenti
    University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA
    Mol Genet Metab 90:441-5. 2007
    ..Given the lifetime risk of morbidity or sudden death, identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs...
  25. doi request reprint Peanut consumption increases levels of plasma very long chain fatty acids in humans
    Christina Lam
    Department of Pediatrics, University of California, Los Angeles, CA, USA
    Mol Genet Metab 107:620-2. 2012
    ..These levels returned to normal within 12h. Peanut consumption needs to be accounted for when interpreting VLCFAs...
  26. doi request reprint Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia
    Joshua L Deignan
    Department of Pathology, David Geffen School of Medicine at the University of California, Los Angeles, CA, USA
    Mol Genet Metab 100:S31-6. 2010
    ....
  27. ncbi request reprint Hyperargininemia due to liver arginase deficiency
    Eric A Crombez
    Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Mol Genet Metab 84:243-51. 2005
    ..In addition to the clinical characterization of this disorder; the biochemical, enzymatic, and molecular evidence of disease is summarized. Treatment and prenatal diagnosis are also discussed...
  28. ncbi request reprint Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy
    Rebecca Mardach
    Regional Metabolic Center, Kaiser Permanente Medical Group, 4700 Sunset Boulevard, Los Angeles, CA 90027, USA
    Mol Genet Metab 85:286-90. 2005
    ..The findings in this patient provide a possible mechanism for the cardiac complications that are becoming more apparent in propionic acidemia...
  29. pmc Maternal glutaric acidemia, type I identified by newborn screening
    Eric A Crombez
    Department of Pediatrics, University of California, Los Angeles, CA 90095 1752, USA
    Mol Genet Metab 94:132-4. 2008
    ..One of the women was a compound heterozygote for distinct mutations in the glutaric acid dehydrogenase gene, whereas the second was either homozygous or hemizygous for a mutation in Exon 6 of the gene...
  30. ncbi request reprint Expression of arginase II in prostate cancer
    Shannon M Mumenthaler
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, 650 Charles E Young Drive South, Los Angeles, CA 90095 1732, USA
    Int J Oncol 32:357-65. 2008
    ..More specifically, the elevated AII expression seen in androgen-dependent and in more differentiated prostate cancers suggests that AII could be a potentially useful marker of early stage prostate adenocarcinoma...
  31. ncbi request reprint Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema
    Jonathan D Picker
    Divisions of Genetics and Neuropathology, Children s Hospital Boston, The Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA
    J Pediatr 142:349-52. 2003
    ..The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle defects...
  32. ncbi request reprint Expression of the liver form of arginase in erythrocytes
    Phillip S Kim
    Department of Pathology and Laboratory Medicine, University of California at Los Angeles School of Medicine, 10833 Le Conte Avenue, 90095 1732, USA
    Mol Genet Metab 76:100-10. 2002
    ....
  33. ncbi request reprint Helicobacter pylori induces macrophage apoptosis by activation of arginase II
    Alain P Gobert
    Department of Medicine, Division of Gastroenterology, University of Maryland School of Medicine, and Veterans Affairs Maryland Health Care System, Baltimore, MD 21201, USA
    J Immunol 168:4692-700. 2002
    ..pylori gastritis tissues, indicating the likely in vivo relevance of our findings. Therefore, we describe arginase- and ODC-dependent macrophage apoptosis, which implicates polyamines in the pathophysiology of H. pylori infection...
  34. ncbi request reprint Loss of arginase I results in increased proliferation of neural stem cells
    Sara G Becker-Catania
    Edward Hines Jr Veterans Administration Hospital, Hines, Illinois, USA
    J Neurosci Res 84:735-46. 2006
    ..The consequence of these changes may contribute to the differential phenotypes of KO vs. WT cells. It appears that AI may play an important and unanticipated role in growth and development of NSCs...
  35. pmc Contrasting features of urea cycle disorders in human patients and knockout mouse models
    Joshua L Deignan
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, CA 90095 1732, USA
    Mol Genet Metab 93:7-14. 2008
    ..Consequently, all of the current mouse models are highly useful for future research into novel pharmacological and dietary treatments and gene therapy protocols for the management of urea cycle disorders...
  36. ncbi request reprint Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans
    Tien V Nguyen
    Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
    Mol Genet Metab 77:68-79. 2002
    ....
  37. pmc Cross-sectional multicenter study of patients with urea cycle disorders in the United States
    Mendel Tuchman
    Children s National Medical Center, The George Washington University, School of Medicine, 111 Michigan Avenue, N W, Washington, DC 20010, USA
    Mol Genet Metab 94:397-402. 2008
    ..Plasma glutamine levels were higher in proximal UCD and in neonatal type disease. The RDCRN allows comprehensive analyses of rare inherited UCD, their frequencies and current medical practices...
  38. ncbi request reprint Diagnostic yield of chromosome analysis in patients with developmental delay or mental retardation who are otherwise nondysmorphic
    Joanne F Macayran
    Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California
    Am J Med Genet A 140:2320-3. 2006
    ..The role of array-comparative genomic hybridization (array-CGH) as an auxiliary or alternative procedure in this patient population will be discussed...