Human Mutation, 1998 Glutaric acidemia type I (GA1) is caused by mutations in the gene encoding the enzyme glutaryl‐CoA dehydrogenase (GCD). Sixty‐three pathogenic mutations identified by several laboratories are presented, 30 of them for the first time, together with data ...
S. Goodman +6 more
semanticscholar +2 more sources
Glutaric aciduria type I with high residual glutaryl‐CoA dehydrogenase activity [PDF]
Developmental Medicine & Child Neurology, 1998 Two brothers with dystonia and slight MRI changes in the basal ganglia had normal urinary glutaric acid excretion, but slightly increased 3‐hydioxyglutarate and conjugated glutarate excretions. Both siblings have high residual glutaryl‐CoA dehydrogenase activity, and are compound heterozygotes for two mutations ‐ R227P and V400M ‐ reported to be ...
A. Ribes +5 more
openaire +4 more sources
Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings. [PDF]
Radiol Case RepGlutaric aciduria type 1 is a rare autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine, and L-tryptophan. It is an inherited
Regmi PR +4 more
europepmc +2 more sources
Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice
Life Sciences, 2013 The establishment of a genetic knockout murine model of glutaric acidemia type I (GAI) with complete loss of glutaryl-CoA dehydrogenase (GCDH) activity has been used to investigate the pathological mechanisms underlying neurological symptoms in this disorder. However, very little has been reported on the neurobehavior of GCDH deficient mice (Gcdh(-/-)).
Paulo Henrique S. Botton +8 more
openaire +4 more sources
Emergency Management of Intoxication-Type Inherited Metabolic Disorders. [PDF]
J Inherit Metab DisABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
Tarr JD, Morris AAM.
europepmc +2 more sources
Cracking Lysine Crotonylation (Kcr): Enlightening a Promising Post-Translational Modification. [PDF]
ChembiochemLysine crotonylation (Kcr) is a novel post‐translational modification linked to diseases like cancer and cardiovascular disease. Kcr enhances gene expression more than lysine acetylation, making it a promising therapeutic target. Despite recent research, key regulatory mechanisms and selective methods for studying Kcr remain underexplored.
Westerveld M +4 more
europepmc +2 more sources
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). [PDF]
Human Molecular Genetics, 2008 Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder caused by mutations in the glutaryl-CoA dehydrogenase gene (GCDH), leading to an accumulation and high excretion of glutaric acid and 3-hydroxyglutaric acid.
B. Keyser +6 more
semanticscholar +2 more sources
A CoA-Transferase and Acyl-CoA Dehydrogenase Convert 2-(Carboxymethyl)cyclohexane-1-Carboxyl-CoA During Anaerobic Naphthalene Degradation. [PDF]
Environ MicrobiolWe identified a CoA‐transferase and an acyl‐CoA dehydrogenase involved in converting 2‐(carboxymethyl)cyclohexane‐1‐carboxyl‐CoA during anaerobic naphthalene degradation. This confirms the thn gene cluster's role in this process. We also modified the metabolic pathway upstream and provided further insight into the second‐ring cleavage reaction ...
Kong Y +13 more
europepmc +2 more sources
Disease‐causing mutations affecting surface residues of mitochondrial glutaryl‐CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture [PDF]
Human Molecular Genetics, 2017 J. Schmiesing +7 more
semanticscholar +2 more sources
Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency (GDD) 859 [PDF]
Pediatric Research, 1996 Georg F. Hoffmann +9 more
openaire +3 more sources