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amino acid chloromethyl ketones/pharmacology; amino acid metabolism, inborn errors/chemically induced; amino acid metabolism, inborn errors/metabolism; amino acid metabolism, inborn errors/physiopathology; ammonium compounds/metabolism; ammonium compounds/toxicity; animals; apoptosis/drug effects; brain injuries/chemically induced; brain injuries/metabolism; brain injuries/pathology; caspase 3/metabolism; cell culture techniques; citrates/toxicity; culture media/chemistry; glutamine/metabolism; humans; neurons/drug effects; neurons/metabolism; neurons/pathology; quinolines/pharmacology; rats; 2-methyl citric acid or 2-methylcitrate; ammonium; apoptosis; brain development; methylmalonic aciduria; neurotoxicity (1) 1
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Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, pp. e53735 - e53735
Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic... 
CREATINE | DIAGNOSIS | TRANSPORT | MANAGEMENT | ACIDS | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | COA DEHYDROGENASE-DEFICIENCY | SECONDARY | NEURODEGENERATION | TOXICITY | Brain Diseases, Metabolic - pathology | Glutaryl-CoA Dehydrogenase - metabolism | Neurons - pathology | Oligodendroglia - metabolism | Astrocytes - pathology | Brain - enzymology | Brain - metabolism | Amino Acid Metabolism, Inborn Errors - metabolism | Oligodendroglia - drug effects | Neurons - metabolism | Amino Acid Metabolism, Inborn Errors - pathology | Cell Death - drug effects | Culture Media - chemistry | Neurons - drug effects | Disease Models, Animal | Astrocytes - drug effects | Rats | Brain Diseases, Metabolic - metabolism | Rats, Sprague-Dawley | Brain - drug effects | Oligodendroglia - pathology | Animals | Quaternary Ammonium Compounds - metabolism | Brain - pathology | Glutarates - pharmacology | Astrocytes - metabolism | Glutaryl-CoA Dehydrogenase - deficiency | Amino acids | Brain damage | Biochemistry | Metabolites | Cell death | Brain | Cell culture | Pediatrics | Ammonium | Neurosciences | Inborn errors of metabolism | Dehydrogenases | Disease | Neurobiology | Aciduria | Nervous system | Damage prevention | Accumulation | Neurotoxicity | Developmental stages | Rodents | Biocompatibility | Supplementation | Glutamate-ammonia ligase | Urine | Astrocytes | Legal medicine | Mortality | Dietary supplements | Glutaryl-CoA dehydrogenase | Cultures | Exposure | Medical screening | Metabolism | Patients | Carnitine | Brain research | Hospitals | Lysine | In vivo methods and tests | Lactic acid | Three dimensional models | Brain injury | Metabolic disorders | Glutamine | Apoptosis | Index Medicus
Journal Article
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2016, Volume 119, Issue 1-2, pp. 57 - 67
Journal Article
Human Mutation, ISSN 1059-7794, 03/2005, Volume 25, Issue 3, pp. 239 - 247
The cblE type of homocystinuria is a rare autosomal recessive disorder caused by impaired reductive activation of methionine synthase. Although earlier... 
haplotype | methionine synthase reductase, MTRR | SNP | cblE | homocystinuria | minigene expression | megaloblastic anemia | Homocystinuria | Megaloblastic anemia | Methionine synthase reductase, MTRR | Haplotype | Minigene expression | HOMOCYSTEINE | MTRR | methionine synthase reductase | DUAL FLAVOPROTEIN | DISORDERS | COMPLEMENTATION GROUP | FIBROBLASTS | HETEROGENEITY | GENE | METABOLISM | GENETICS & HEREDITY | MEGALOBLASTIC-ANEMIA | CDNA CLONING | Genetic Therapy | Sequence Deletion | Fibroblasts - enzymology | Folic Acid - therapeutic use | Homocystinuria - therapy | Humans | Recombinant Fusion Proteins - physiology | Mutation, Missense | Genetic Complementation Test | 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase - deficiency | Homocystinuria - enzymology | Haplotypes - genetics | Transfection | DNA Mutational Analysis | Ferredoxin-NADP Reductase - genetics | Polymerase Chain Reaction | Hydroxocobalamin - therapeutic use | Betaine - therapeutic use | Homocystinuria - classification | European Continental Ancestry Group - genetics | Homocystinuria - drug therapy | Genes, Synthetic | Homocysteine - blood | Homocystinuria - blood | Codon, Nonsense | Fibroblasts - pathology | Cell Line, Transformed - pathology | Homocystinuria - pathology | Polymorphism, Genetic | Point Mutation | Cell Line, Transformed - enzymology | Polymorphism, Restriction Fragment Length | Ferredoxin-NADP Reductase - deficiency | Brain - pathology | Homocystinuria - genetics | Amino Acid Substitution
Journal Article
Journal Article
by Hilger, Christiane and Swiontek, Kyra and Fischer, Jörg and Hentges, François and Lehners, Christiane and Morisset, Martine and Eberlein, Bernadette and Biedermann, Tilo and Ollert, Markus and Wildner, Sabrina and Stemeseder, Teresa and Freier, Regina and Briza, Peter and Lang, Roland and Batanero, Eva and Villalba, Mayte and Lidholm, Jonas and Hawranek, Thomas and Ferreira, Fatima and Brandstetter, Hans and Gadermaier, Gabriele and Moingeon, Philippe and Groeme, Rachel and Bouley, Julien and Bordas, Véronique and Le Mignon, Maxime and Bussières, Laetitia and Lautrette, Aurélie and Mascarell, Laurent and Lombardi, Vincent and Baron-Bodo, Véronique and Chabre, Henri and Batard, Thierry and Nony, Emmanuel and De Amicis, Karine Marafigo and Watanabe, Alexandra Sayuri and Figo, Daniele Danella and Dos Santos-Pinto, José Roberto Aparecido and Palma, Mario Sergio and Castro, Fabio Fernandes Morato and Kalil, Jorge and Wohlschlager, Therese and Ferreira-Briza, Fatima and Santos, Keity Souza and Faber, Margaretha and Van Gasse, Athina and Sabato, Vito and Hagendorens, Margo M and Bridts, Chris H and De Clerck, Luc S and Perales, Araceli Diaz and Ebo, Didier and Zavadakova, Petra and Buchwalder, Aurélie and Rebeaud, Fabien and Märki, Iwan and Gepp, Barbara and Lengger, Nina and Möbs, Christian and Pfützner, Wolfgang and Radauer, Christian and Bohle, Barbara and Galvao, Clovis Eduardo and Santos-Pinto, Jose Roberto Aparecido and Schwager, Christian and Kull, Skadi and Schocker, Frauke and Behrends, Jochen and Becker, Wolf-Meinhard and Jappe, Uta and Mastrorilli, Carla and Tripodi, Salvatore and Caffarelli, Carlo and Asero, Riccardo and Dondi, Arianna and Ricci, Giampaolo and Dascola, Carlotta Povesi and Calamelli, Elisabetta and Di Rienzo Businco, Andrea and Bianchi, Annamaria and Frediani, Tullio and Verga, Carmen and Iacono, Iride Dello and Peroni, Diego and Pingitore, Giuseppe and Bernardini, Roberto and Matricardi, Paolo Maria and Hofer, Heidi and Asam, Claudia and Hauser, Michael and Himly, Martin and Ebner, Christof and Lemoine, Pierrick and Jain, Karine and Abiteboul, Kathy and Arvidsson, Monica and Rak, Sabina and Mota, Inês and Garcia, Filipe Benito and Gaspar, Angela and ...
Clinical and Translational Allergy, ISSN 2045-7022, 10/2016, Volume 6, Issue S2, pp. 1 - 34
Table of contents ORAL ABSTRACTS Symposium 1: Biochemistry, structure and environment of the allergen: what makes a protein an allergen? O1 Two cell-membrane... 
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2004, Volume 279, Issue 41, pp. 42742 - 42749
Intracellular cobalamin is converted to adenosylcobalamin, coenzyme for methylmalonyl-CoA mutase and to methylcobalamin, coenzyme for methionine synthase, in... 
Journal Article