Genomes and Genes
Stephen I Goodman
Affiliation: University of Colorado Health Sciences Center
- Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutationsS 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...
- Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) geneStephen 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...
- Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challengeS I Goodman
Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO 80045, USA
J Inherit Metab Dis 27:801-3. 2004....
- Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramerJonna 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...
- Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type IDavid 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...
- Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase geneD 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...
- 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 AmishB 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...
- Animal models for glutaryl-CoA dehydrogenase deficiencyD 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...
- Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) to human chromosome 4q33 by fluorescence in situ hybridization and somatic cell hybridizationE 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...
- Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicityK 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...
- Chromatographic analysis of amino and organic acids in physiological fluids to detect inborn errors of metabolismMichael 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...
- Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coliS 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...
- Proton abstraction reaction, steady-state kinetics, and oxidation-reduction potential of human glutaryl-CoA dehydrogenaseT 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...
- Alternate substrates of human glutaryl-CoA dehydrogenase: structure and reactivity of substrates, and identification of a novel 2-enoyl-CoA productK 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...
- Pork and human cDNAs encoding glutaryl-CoA dehydrogenaseS I Goodman
Department of Pediatrics, University of Colorado, School of Medicine, Childrens Hospital, Denver 80262
Prog Clin Biol Res 375:169-73. 1992
- Genetic modification of prenatal lethality and dilated cardiomyopathy in Mn superoxide dismutase mutant miceT T Huang
Department of Pediatrics, University of California, San Francisco, CA 94143 0546, USA
Free Radic Biol Med 31:1101-10. 2001....
- Binding, hydration, and decarboxylation of the reaction intermediate glutaconyl-coenzyme A by human glutaryl-CoA dehydrogenaseJ 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...
- A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiencyGeorgianne 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...
- Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missedRenata 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...
- Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductaseS 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...
- New insights for glutaric aciduria type IWilliam J Zinnanti
Brain 129:e55. 2006
- A diet-induced mouse model for glutaric aciduria type IWilliam 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...
- 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3Franziska 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...
- Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type IWilliam 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...
- Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme ASven 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...
- Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1Britta 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...
- 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 deficiencySven 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...