Affiliation: University of California
- 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 miceKathryn 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...
- Molecular diagnosis and inborn errors of metabolism: a practitioner's viewS 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...
- Phenylketonuria: an updateStephen 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...
- Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiencyStephen 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...
- New frontiers in hereditary metabolic disease: an historical perspectiveStephen D Cederbaum
Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
Mol Genet Metab 87:184-9. 2006
- Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemiaJoshua 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....
- Polyamine homeostasis in arginase knockout miceJoshua 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...
- Arginase expression in mouse embryonic developmentHong 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...
- Mosaicism for trisomy 21 in a patient with young-onset dementia: a case report and brief literature reviewJohn 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...
- Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutationJohn 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...
- 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...
- 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 deficiencyFabiola 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....
- Mouse model for human arginase deficiencyRamaswamy 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....
- Cloning and characterization of human agmatinaseRamaswamy 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...
- Ornithine deficiency in the arginase double knockout mouseJoshua 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...
- Short-term correction of arginase deficiency in a neonatal murine model with a helper-dependent adenoviral vectorChia 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...
- Disruption of arginase II alters prostate tumor formation in TRAMP miceShannon 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...
- 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...
- Widespread expression of arginase I in mouse tissues. Biochemical and physiological implicationsHong 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....
- Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemiaJoshua 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....
- Hyperargininemia due to liver arginase deficiencyEric 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...
- Maternal glutaric acidemia, type I identified by newborn screeningEric 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...
- Expression of arginase II in prostate cancerShannon 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...
- Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathyRebecca 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...
- Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edemaJonathan 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...
- Helicobacter pylori induces macrophage apoptosis by activation of arginase IIAlain 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...
- Identification of isobutyryl-CoA dehydrogenase and its deficiency in humansTien V Nguyen
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA
Mol Genet Metab 77:68-79. 2002....
- Contrasting features of urea cycle disorders in human patients and knockout mouse modelsJoshua 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...
- Expression of the liver form of arginase in erythrocytesPhillip 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....
- Loss of arginase I results in increased proliferation of neural stem cellsSara 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...
- Diagnostic yield of chromosome analysis in patients with developmental delay or mental retardation who are otherwise nondysmorphicJoanne 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...
- Cross-sectional multicenter study of patients with urea cycle disorders in the United StatesMendel 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...