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Glutaryl-CoA dehydrogenase

GCDH, GCD, glutaryl-coenzyme A dehydrogenase
The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, HAD, CAN, AGE, CSD
Papers on GCDH
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
Wu et al., Changsha, China. In Clin Chim Acta, Mar 2016
Glutaric aciduria type I (GA-I) is a rare autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH), leading to an abnormal metabolism of lysine, hydroxylysine and tryptophan.
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I - Study from South India.
Lingappa et al., India. In Brain Dev, Jan 2016
METHODS: The Glutaryl-CoA dehydrogenase gene (GCDH) gene was sequenced to identify disease causing mutations by direct sequencing of all the exons in twelve patients who were biochemically confirmed with GA I. RESULTS: We identified eleven mutations of which nine are homozygous mutations, one heterozygous and two synonymous mutations.
Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology.
Wajner et al., Porto Alegre, Brazil. In J Neurol Sci, Jan 2016
In the present work we investigated parameters of bioenergetics and redox homeostasis in various cerebral structures (cerebral cortex, striatum and hippocampus) and heart of adult wild type (Gcdh(+/+)) and glutaryl-CoA dehydrogenase deficient knockout (Gcdh(-/-)) mice fed a baseline chow.
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.
Wajner et al., Porto Alegre, Brazil. In Mol Neurobiol, Dec 2015
UNASSIGNED: We investigated the effects of an acute intrastriatal QUIN administration on cellular redox and bioenergetics homeostasis, as well as on important signaling pathways in the striatum of wild-type (Gcdh (+/+) , WT) and knockout mice for glutaryl-CoA dehydrogenase (Gcdh (-/-) ) fed a high lysine (Lys, 4.7 %) chow.
Aqueous Tear Deficiency Increases Conjunctival Interferon-γ (IFN-γ) Expression and Goblet Cell Loss.
Corrales et al., Houston, United States. In Invest Ophthalmol Vis Sci, Dec 2015
METHODS: Goblet cell density (GCD) was measured in impression cytology from the temporal bulbar conjunctiva, and gene expression was measured in cytology samples from the nasal bulbar conjunctiva obtained from 68 subjects, including normal control, meibomian gland disease (MGD), non-Sjögren syndrome (non-SSATD)-, and Sjögren syndrome (SSATD)-associated aqueous tear deficiency.
Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.
Salih et al., Riyadh, Saudi Arabia. In Saudi Med J, Nov 2015
Glutaric aciduria type 1 (GA1) is an inherited inborn error of metabolism caused by a deficiency of the enzyme glutaryl Co-A dehydrogenase (GCDH).
Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.
Sicotte et al., Los Angeles, United States. In Neurogenetics, Oct 2015
Evaluation of the glutaryl-CoA dehydrogenase (GCDH) gene revealed compound heterozygosity consisting of a novel variant (c.1219C>G; p.Leu407Val) and pathogenic mutation (c.848delT; p.L283fs).
Gastric crypt dysplasia: a distinct subtype of gastric dysplasia with characteristic endoscopic features and immunophenotypic and biological anomalies.
Lauwers et al., Pusan, South Korea. In Histopathology, Oct 2015
AIMS: Previous reports have shown that gastric epithelial dysplasia (GED) limited to the crypt (gastric crypt dysplasia, GCD) is commonly identified at the periphery of gastric carcinoma.
Effects of eugenol on granule cell dispersion in a mouse model of temporal lobe epilepsy.
Kim et al., Taegu, South Korea. In Epilepsy Res, Sep 2015
Granule cell dispersion (GCD), a structural abnormality, is characteristic of temporal lobe epilepsy (TLE).
Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I.
S B et al., Nijmegen, Netherlands. In Bba Clin, 2014
The diagnosis was confirmed by undetectable glutaryl-CoA dehydrogenase activity in lymphocytes and two pathogenic heterozygous mutations in the GCDH gene (c.1060A
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
Paisán-Ruiz et al., San Sebastián, Spain. In Hum Genet, 2012
A homozygous, disease-segregating mutation (p.Val400Met) was identified in the glutaryl-CoA dehydrogenase (GCDH) gene at chromosome 19p13.
Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.
Gomes et al., Lisbon, Portugal. In Biochim Biophys Acta, 2011
physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of GCDH and prevented enzymatic activity loss
[Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I].
Huang et al., Beijing, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2011
GCDH gene mutations are identified in 8 patients with glutaric aciduria type I
Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.
Henderson et al., Cape Town, South Africa. In Mol Genet Metab, 2010
12 glutaric aciduria type 1 patients were found homozygous for the same A293T mutation in the glutaryl-CoA dehydrogenase (GCDH) gene.
Glutaric aciduria type 1 in Korea: report of two novel mutations.
Chae et al., Seoul, South Korea. In J Korean Med Sci, 2010
mutational analysis of glutaryl-CoA dehydrogenase in two patients with glutaric aciduria type 1.
Reelin deficiency causes granule cell dispersion in epilepsy.
Frotscher et al., Freiburg, Germany. In Exp Brain Res, 2010
In mesial temporal lobe epilepsy (MTLE), granule cell dispersion (GCD), a migration defect of dentate granule cells, is frequently observed.
Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.
Ma et al., Fuzhou, China. In Mol Vis, 2009
RESULTS: Five mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.delta1838-1849 (p.Delta613-616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W mutation for 10 granular cornea dystrophy type I (GCD1) families, R124H for 5 GCD type II (GCD2), R124C for 4 LCD1, and H626R for one variant LCD.
[Chronic-granulomatous disease].
Durieu et al., Grenoble, France. In Rev Med Interne, 2009
The most severe and frequent type of GCD is the X-linked transmitted form caused by mutations in the CYBB gene encoding the redox element of the oxidase complex, gp91phox or Nox2.
Genetic caste determination in harvester ants: possible origin and maintenance by cyto-nuclear epistasis.
Gordon et al., Bloomington, United States. In Ecology, 2006
This system of genetic caste determination (GCD) is characterized by between-caste nuclear variation and high levels of mitochondrial haplotype variation between alternative maternal lineages.
TGFBI gene mutations in corneal dystrophies.
Klintworth et al., Hyderābād, India. In Hum Mutat, 2006
The lattice corneal dystrophies (LCD) and granular corneal dystrophies (GCD) are autosomal dominant disorders of the corneal stroma.
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