Stephen I Goodman

Summary

Affiliation: University of Colorado Health Sciences Center
Country: USA

Publications

  1. ncbi request reprint Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations
    S I Goodman
    Department of Pediatrics, University of Colorado Health Sciences Center, Denver 80262, USA
    Hum Mutat 12:141-4. 1998
  2. ncbi request reprint Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene
    Stephen I Goodman
    Department of Pediatrics, University of Colorado Health Sciences Center, Box C233, 4200 East Ninth Avenue, Denver, CO 80262, USA
    Mol Genet Metab 77:86-90. 2002
  3. ncbi request reprint Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge
    S I Goodman
    Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO 80045, USA
    J Inherit Metab Dis 27:801-3. 2004
  4. ncbi request reprint Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer
    Jonna B Westover
    The Program in Human Medical Genetics, University of Colorado Health Sciences Center, Denver, CO 80262, USA
    Mol Genet Metab 79:245-56. 2003
  5. ncbi request reprint Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I
    David M Koeller
    Department of Pediatrics, Oregon Health and Science University, Portland, OR 97201, USA
    Hum Mol Genet 11:347-57. 2002
  6. ncbi request reprint Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene
    D M Koeller
    Department of Pediatrics, University of Colorado Health Sciences Center, Denver 80262, USA
    Genomics 28:508-12. 1995
  7. pmc Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish
    B J Biery
    Department of Cellular and Structural Biology, University of Colorado School of Medicine, Denver 80262, USA
    Am J Hum Genet 59:1006-11. 1996
  8. ncbi request reprint Animal models for glutaryl-CoA dehydrogenase deficiency
    D M Koeller
    Department of Pediatrics, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Inherit Metab Dis 27:813-8. 2004
  9. ncbi request reprint Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridization
    E B Spector
    Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado 80262, USA
    Mol Genet Metab 67:364-7. 1999
  10. ncbi request reprint Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity
    K B Bjugstad
    Department Psychiatry, University of Colorado Health Sciences Center, Denver, Colorado, USA
    J Inherit Metab Dis 29:612-9. 2006

Research Grants

  1. MRDD Research Center
    KARL PFENNINGER; Fiscal Year: 2007

Collaborators

Detail Information

Publications27

  1. ncbi request reprint Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations
    S I Goodman
    Department of Pediatrics, University of Colorado Health Sciences Center, Denver 80262, USA
    Hum Mutat 12:141-4. 1998
    ..There is little if any relationship between genotype and clinical phenotype, but some mutations, even when heterozygous, seem especially common in patients with normal or only minimally elevated urine glutaric acid...
  2. ncbi request reprint Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene
    Stephen I Goodman
    Department of Pediatrics, University of Colorado Health Sciences Center, Box C233, 4200 East Ninth Avenue, Denver, CO 80262, USA
    Mol Genet Metab 77:86-90. 2002
    ..Primers to amplify these exons are presented, together with mutations identified by molecular analysis of 20 ETF:QO-deficient patients. Twenty-one different disease-causing mutations were identified on 36 of the 40 chromosomes...
  3. ncbi request reprint Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge
    S I Goodman
    Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO 80045, USA
    J Inherit Metab Dis 27:801-3. 2004
    ....
  4. ncbi request reprint Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer
    Jonna B Westover
    The Program in Human Medical Genetics, University of Colorado Health Sciences Center, Denver, CO 80262, USA
    Mol Genet Metab 79:245-56. 2003
    ..The results also indicate that a primary effect of the mutations is to cause alterations that promote aggregation...
  5. ncbi request reprint Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I
    David M Koeller
    Department of Pediatrics, Oregon Health and Science University, Portland, OR 97201, USA
    Hum Mol Genet 11:347-57. 2002
    ..We hypothesize that the lack of similarity in regards to the neurologic phenotype and striatal pathology of GA-I patients, as compared with the Gcdh-/- mice, is due to intrinsic differences between the striata of mice and men...
  6. ncbi request reprint Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene
    D M Koeller
    Department of Pediatrics, University of Colorado Health Sciences Center, Denver 80262, USA
    Genomics 28:508-12. 1995
    ..Gcdh was mapped by backcross analysis to mouse chromosome 8 within a region that is homologous to a region of human chromosome 19, where the human gene was previously mapped...
  7. pmc Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish
    B J Biery
    Department of Cellular and Structural Biology, University of Colorado School of Medicine, Denver 80262, USA
    Am J Hum Genet 59:1006-11. 1996
    ..Several mutations have been expressed in Escherichia coli, and all produce diminished enzyme activity. Reduced activity in GCD encoded by the A421V mutation in the Amish may be due to impaired association of enzyme subunits...
  8. ncbi request reprint Animal models for glutaryl-CoA dehydrogenase deficiency
    D M Koeller
    Department of Pediatrics, Oregon Health and Science University, Portland, Oregon 97239, USA
    J Inherit Metab Dis 27:813-8. 2004
    ..Unravelling these mechanisms may be the key to understanding the pathophysiology of this unique disease and to the development of neuroprotective strategies...
  9. ncbi request reprint Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridization
    E B Spector
    Department of Pediatrics, University of Colorado School of Medicine, Denver, Colorado 80262, USA
    Mol Genet Metab 67:364-7. 1999
    ..Inherited defects of ETF-QO cause glutaric acidemia type II. We here describe the localization of the ETF-QO gene to human chromosome 4q33 by somatic cell hybridization and fluorescence in situ hybridization...
  10. ncbi request reprint Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity
    K B Bjugstad
    Department Psychiatry, University of Colorado Health Sciences Center, Denver, Colorado, USA
    J Inherit Metab Dis 29:612-9. 2006
    ..Increased sensitivity to 3NP early in life may model the developmental window for the striatal damage observed in human GA I...
  11. doi request reprint Chromatographic analysis of amino and organic acids in physiological fluids to detect inborn errors of metabolism
    Michael Woontner
    University of Colorado Health Sciences Center, Aurora, Colorado, USA
    Curr Protoc Hum Genet . 2006
    ..Organic acids are analyzed by gas-chromatography/mass spectrometry (GC-MS). Analysis of amino and organic acids is necessary to detect and monitor the treatment of many inborn errors of metabolism...
  12. ncbi request reprint Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
    S I Goodman
    Department of Pediatrics, University of Colorado School of Medicine, Denver, USA
    Hum Mol Genet 4:1493-8. 1995
    ..Human glutaryl-CoA dehydrogenase shows 53% sequence similarity to porcine medium chain acyl-CoA dehydrogenase, and these similarities were utilized to predict structure-function relationships in glutaryl-CoA dehydrogenase...
  13. ncbi request reprint Proton abstraction reaction, steady-state kinetics, and oxidation-reduction potential of human glutaryl-CoA dehydrogenase
    T M Dwyer
    Departments of Pediatrics and Pharmaceutical Sciences, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA
    Biochemistry 39:11488-99. 2000
    ..Determination of these fundamental properties of the human enzyme will serve as the basis for future studies of the decarboxylation reaction which is unique among the acyl-CoA dehydrogenases...
  14. ncbi request reprint Alternate substrates of human glutaryl-CoA dehydrogenase: structure and reactivity of substrates, and identification of a novel 2-enoyl-CoA product
    K Sudhindra Rao
    Department of Pediatrics, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA
    Biochemistry 41:1274-84. 2002
    ..4-Nitrobutyryl-CoA is the extreme example with the strongly electron-withdrawing nitro group in the gamma position...
  15. ncbi request reprint Pork and human cDNAs encoding glutaryl-CoA dehydrogenase
    S I Goodman
    Department of Pediatrics, University of Colorado, School of Medicine, Childrens Hospital, Denver 80262
    Prog Clin Biol Res 375:169-73. 1992
  16. ncbi request reprint Genetic modification of prenatal lethality and dilated cardiomyopathy in Mn superoxide dismutase mutant mice
    T T Huang
    Department of Pediatrics, University of California, San Francisco, CA 94143 0546, USA
    Free Radic Biol Med 31:1101-10. 2001
    ....
  17. ncbi request reprint Binding, hydration, and decarboxylation of the reaction intermediate glutaconyl-coenzyme A by human glutaryl-CoA dehydrogenase
    J B Westover
    The Program in Human Medical Genetics, The Department of Pediatrics, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA
    Biochemistry 40:14106-14. 2001
    ..In the absence of detectable oxidation-reduction, the data indicate that oxidation-reduction of the dehydrogenase flavin is not essential for decarboxylation of glutaconyl-CoA...
  18. 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...
  19. ncbi request reprint Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed
    Renata C Gallagher
    Department of Pediatrics, Division of Genetics, Stanford University School of Medicine, Stanford, CA, USA
    Mol Genet Metab 86:417-20. 2005
    ..The level of glutarylcarnitine was below the newborn screening program cut-off. This suggests that some cases of GA-I may be missed by newborn screening by tandem mass spectrometry...
  20. ncbi request reprint Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase
    S I Goodman
    Department of Pediatrics, University of Colorado School of Medicine, Denver 80262
    Eur J Biochem 219:277-86. 1994
    ..The detergent-solubilized protein transfers electrons from ETF to the ubiquinone homolog, Q1, indicating that both the FAD and iron-sulfur cluster are properly inserted into the heterologously expressed protein...
  21. ncbi request reprint New insights for glutaric aciduria type I
    William J Zinnanti
    Brain 129:e55. 2006
  22. ncbi request reprint A diet-induced mouse model for glutaric aciduria type I
    William J Zinnanti
    Department of Neurosurgery, Penn State College of Medicine, Hershey, PA 17033, USA
    Brain 129:899-910. 2006
    ..Thus, the Gcdh-/- mouse exposed to high protein or lysine may be a useful model of human GA-1 including developmentally dependent striatal vulnerability...
  23. ncbi request reprint 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3
    Franziska Stellmer
    Department of Pediatrics, University Medical Center Hamburg Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany
    J Mol Med (Berl) 85:763-70. 2007
    ..The data demonstrate for the first time the membrane translocation of 3OH-GA mediated by NaDC3 and the cis-inhibitory effect on OCT2-mediated transport of cations...
  24. pmc Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I
    William J Zinnanti
    Jake Gittlen Cancer Research Foundation, Department of Pathology, Penn State College of Medicine, Hershey, Pennsylvania 17033, USA
    J Clin Invest 117:3258-70. 2007
    ..Blocking brain lysine uptake reduced glutaric acid levels and brain injury. These findings provide what we believe are new monitoring and treatment strategies that may translate for use in human GA-I...
  25. ncbi request reprint Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A
    Sven W Sauer
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital of Heidelberg, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    J Biol Chem 280:21830-6. 2005
    ..In conclusion, our results demonstrate that bioenergetic impairment may play an important role in the pathomechanisms underlying neurodegenerative changes in glutaryl-CoA dehydrogenase deficiency...
  26. doi request reprint Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1
    Britta Keyser
    Children s Hospital, Department of Biochemistry, University Medical Center Hamburg Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
    Biochim Biophys Acta 1782:385-90. 2008
    ..The data demonstrate that under conditions mimicking encephalopathic crises the blood-brain barrier appears to remain intact...
  27. ncbi request reprint Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
    Sven W Sauer
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital Heidelberg, Heidelberg, Germany
    J Neurochem 97:899-910. 2006
    ..In conclusion, we propose that an intracerebral de novo synthesis and subsequent trapping of GA and 3-OH-GA should be considered as a biochemical risk factor for neurodegeneration in GCDH deficiency...

Research Grants1

  1. MRDD Research Center
    KARL PFENNINGER; Fiscal Year: 2007
    ..Strategic planning has led the investigators to initiate a series of hires, principally in basic neurosciences, and has led to considerable enhancement of cores. ..