Results 161 to 170 of about 5,871 (233)

Interplay of YEATS2 and GCDH regulates histone crotonylation and drives EMT in head and neck cancer. [PDF]

Elife
Pant D, Kakani P, Joshi R, Sabu A, Agrawal S, Samaiya A, Shukla S.   +6 more
europepmc   +1 more source

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 ...
David M. Koeller, Susanne K. Sauer, Moaçir Wajner, Carlos Fernando Mello, Stephen I. Goodman, Michael Woontner, Chris Mühlhausen, Jürgen G. Okun, Stefan Kölker   +8 more
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Development of pathogenic concepts in glutaryl‐CoA dehydrogenase deficiency: The challenge

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: The purpose of this review is to set the stage for discussions that follow about the biochemical and molecular bases of glutaric acidaemia type I, and about the pathogenesis of the characteristic acute striatal necrosis that often occurs during the first years of life.
Stephen I. Goodman
openalex   +3 more sources

Early Prenatal Diagnosis in Two Pregnancies at Risk for Glutaryl‐CoA Dehydrogenase Deficiency

Journal of Inherited Metabolic Disease, 1989
Glutaryl-CoA dehydrogenase (EC 1.3.99.7) participates in the degradative pathways of lysine and tryptophan. Deficiency of this enzyme is the primary defect of glutaric aciduria I (McKusick 23167) (Goodman et al., 1975). Most children with this disorder develop a severe dyskinetic-dystonic syndrome with a sudden onset often precipitated by an infection (
E. Holme, Mårten Kyllerman, Sandra Lindstedt   +2 more
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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, Mark, Albro, Timothy M, Dwyer, Frank E, Frerman   +3 more
openaire   +2 more sources

Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria)

The Journal of Pediatrics, 1979
N. J. Brandt, Niels Gregersen, Ernst Christensen, Ida Grøn, Karsten Boye Rasmussen   +4 more
openalex   +2 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, Murray D, Bain, Johannes, Zschocke   +2 more
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Mechanism of action of glutaryl-CoA and butyryl-CoA dehydrogenases. Purification of glutaryl-CoA dehydrogenase

Biochemistry, 1981
Glutaryl-CoA dehydrogenase, a flavoprotein, catalyzes the reaction -OOCCH3CH2--CH2COSR (FAD leads to FADH2) leads to CH3CH = CHCOSR + CO2 (SR = CoA or pantetheine). With the isolated enzyme, a dye serves as the final electron acceptor. The enzyme from Pseudomonas fluorescens (ATCC 11250) has been purified to homogeneity.
B, Gomes, G, Fendrich, R H, Abeles
openaire   +2 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 ...
S, Kölker, C R, Greenberg, M, Lindner, E, Müller, E R, Naughten, G F, Hoffmann   +5 more
openaire   +2 more sources