Results 201 to 210 of about 17,667 (261)

Oxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I

Molecular Neurobiology, 2016
Bianca Seminotti, Alexandre Umpierrez Amaral, Rafael Teixeira Ribeiro   +2 more
exaly   +2 more sources

Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh−/−) Mice [PDF]

Molecular Neurobiology, 2018
S. Olivera-Bravo, B. Seminotti, Eugenia Isasi, C. Ribeiro, G. Leipnitz, M. Woontner, S. Goodman, D. Souza, L. Barbeito, M. Wajner   +9 more
semanticscholar   +2 more sources

Looking forward—An evidence‐based approach to glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: Three decades after the first description of glutaryl‐CoA dehydrogenase deficiency, major progress has been achieved in the prevention of acute striatal necrosis and neurological sequelae in affected children, if diagnosis is made early and treatment is started before manifestation of acute encephalopathic crises. However, all concepts
A. Schulze-Bergkamen, Jürgen G. Okun, Cheryl R. Greenberg, Georg F. Hoffmann, Peter Burgard, Stefan Kölker, Birgit Assmann   +6 more
openaire   +4 more sources

Glutaric Acid and Its Metabolites Cause Apoptosis in Immature Oligodendrocytes: A Novel Mechanism of White Matter Degeneration in Glutaryl-CoA Dehydrogenase Deficiency [PDF]

Pediatric Research, 2005
Christoph Bührer, C Schiavi, B A Schumm
exaly   +2 more sources

Kinetic Mechanism of Glutaryl-CoA Dehydrogenase

Biochemistry, 2006
Glutaryl-CoA dehydrogenase (GCD) is a homotetrameric enzyme containing one noncovalently bound FAD per monomer that oxidatively decarboxylates glutaryl-CoA to crotonyl-CoA and CO2. GCD belongs to the family of acyl-CoA dehydrogenases that are evolutionarily conserved in their sequence, structure, and function.
K. Sudhindra Rao, Timothy M. Dwyer, Mark Albro, Frank E. Frerman   +3 more
openaire   +3 more sources

Emergency treatment in glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: The history of glutaryl‐CoA dehydrogenase deficiency is determined by acute encephalopathic crises that are precipitated by common febrile diseases, vaccinations or surgical interventions during infancy and early childhood. Such crises result in an irreversible destruction of the basal ganglia (in particular of the putamina), and ...
Martin Lindner, E. Müller, Georg F. Hoffmann, Cheryl R. Greenberg, E. R. Naughten, Stefan Kölker   +5 more
openaire   +3 more sources

Riboflavin-responsive glutaryl CoA dehydrogenase deficiency

Molecular Genetics and Metabolism, 2006
We report here riboflavin responsiveness in a patient with glutaryl CoA dehydrogenase (GCDH) deficiency, compound heterozygous for the S139L and P248L mutations and with 20% residual GCDH enzyme activity in vitro. Our results suggest the mitochondrial GCDH homotetramer remains intact with one of these mutations associated with the binding site of the ...
Ronald A. Chalmers, Johannes Zschocke, Murray D. Bain   +2 more
openaire   +3 more sources

Animal models for glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary:In vitro studies suggest that excitotoxic cell damage is an underlying mechanism for the acute striatal damage in glutaryl‐CoA dehydrogenase (GCDH) deficiency. It is believed to result from an imbalance of glutamatergic and GABAergic neurotransmission induced by the accumulating organic acids 3‐hydroxyglutaric acid (3‐OH‐GA) and to a ...
Chris Mühlhausen, Jürgen G. Okun, C. F. de Mello, Moacir Wajner, Michael Woontner, Sven W. Sauer, David M. Koeller, Stephen I. Goodman, Stefan Kölker   +8 more
openaire   +3 more sources

Challenges for basic research in glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: During the last decades, efforts have been made to elucidate the complex mechanisms underlying neuronal damage in glutaryl‐CoA dehydrogenase deficiency. A combination of in vitro and in vivo investigations have facilitated the development of several hypotheses, including the probable pathogenic role of accumulating glutaric acid and 3 ...
K. A. Strauss, Georg F. Hoffmann, Jürgen G. Okun, Stefan Kölker, Stephen I. Goodman, David M. Koeller   +5 more
openaire   +3 more sources

A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: Application in the genotyping of the glutaryl-CoA dehydrogenase locus

Clinica Chimica Acta, 1993
A method described earlier for measuring glutaryl-CoA dehydrogenase activity in fibroblasts has been further developed. This assay uses the detritiation of [2,3,4-3H]glutaryl-CoA both with and without added artificial electron acceptors as a measure of glutaryl-CoA dehydrogenase activity.
openaire   +3 more sources