Results 31 to 40 of about 5,746 (195)

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity

Cell Reports, 2018
Summary: Lysine glutarylation (Kglu) of mitochondrial proteins is associated with glutaryl-CoA dehydrogenase (GCDH) deficiency, which impairs lysine/tryptophan degradation and causes destruction of striatal neurons during catabolic crisis with subsequent
Jessica Schmiesing, Stephan Storch, Ann-Cathrin Dörfler, Michaela Schweizer, Georgia Makrypidi-Fraune, Melanie Thelen, Marc Sylvester, Volkmar Gieselmann, Catherine Meyer-Schwesinger, Friedrich Koch-Nolte, Henning Tidow, Chris Mühlhausen, Abdul Waheed, William S. Sly, Thomas Braulke   +14 more
doaj   +1 more source

Ketotic Episodes in Glutaryl-CoA Dehydrogenase Deficiency (Glutaric Aciduria) [PDF]

Pediatric Research, 1979
Summary: A 7-yr-old boy with glutaryl-CoA dehydrogenase deficiency (glutaric aciduria), presenting periodic episodes of lethargy and ketosis, was studied during two such episodes. The urinary excretions of glutaric and 3-OH-glutaric acids were 3100–7900 and 460–660 μg/mg creatinine, respectively, during these episodes.
N, Gregersen, N J, Brandt
openaire   +2 more sources

Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase

JIMD Reports, 2019
3‐Hydroxyglutaric acid (3‐OH‐GA) in urine has been identified as the most reliable diagnostic marker for glutaric aciduria type I (GA I). We showed that hydratation of glutaconyl‐CoA to 3‐hydroxyglutaryl‐CoA, which is subsequently hydrolyzed to 3‐OH‐GA ...
Verena Peters, Marina Morath, Matthias Mack, Michael Liesert, Wolfgang Buckel, Georg F. Hoffmann, Jerry Vockley, Sandro Ghisla, Johannes Zschocke   +8 more
doaj   +1 more source

Dystonia and Infantile Glutaric Acidemia

Pediatric Neurology Briefs, 1989
Glutaric acidemia, an autosomal recessively inherited disease caused by deficiency of glutaryl-CoA dehydrogenase, was manifested by acute dystonia in 3 infants reported from the Children's Hospital of Pittsburgh, Pennsylvania.
J Gordon Millichap
doaj   +1 more source

The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons [PDF]

, 2006
Multi-objective evolutionary algorithms (MOEAs) have become increasingly popular as multi-objective problem solving techniques. Most studies of MOEAs are empirical. Only recently, a few theoretical results have appeared.
Katja Brauburger, Gerhard Burckhardt, Birgitta C. Burckhardt   +2 more
core   +3 more sources

Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan

Анналы клинической и экспериментальной неврологии, 2020
Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) acids ...
Elena V. Saifullina, Rim V. Magzhanov, Anzhelika I. Davletova, Al’bina K. Mardanova, Ekaterina A. Timofeyeva, Marina V. Kurkina, Ekaterina Yu. Zakharova   +6 more
doaj   +1 more source

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients [PDF]

, 2016
Patients with glutaric aciduria type 1 (GA1), a rare inherited metabolic disorder, have an increased risk for subdural hematomas (SDHs). GA1 is therefore generally included in the differential diagnosis of children presenting with SDHs.
Rijn, R.R. (Rick) van, Spronsen, F.J. van, Vester, M.E.M. (Marloes E.M.), Visser, G. (G.), Wijburg, F.A. (Frits), Williams, M. (Martine)   +5 more
core   +1 more source

Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile

Journal of Inborn Errors of Metabolism and Screening, 2021
Introduction: Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA).
Carolina Arias, Isabel Hidalgo, María Florencia Salazar, Juan Francisco Cabello, Felipe Peñaloza, Pilar Peredo, Alf Valiente, Karen Fuenzalid, Patricio Guerrero, Verónica Cornej   +9 more
doaj   +1 more source

Electrochemical Characterization of Escherichia coli Adaptive Response Protein AidB [PDF]

, 2012
When exposed to known DNA-damaging alkylating agents, Escherichia coli cells increase production of four DNA repair enzymes: Ada, AlkA, AlkB, and AidB. The role of three enzymes (Ada, AlkA, and AlkB) in repairing DNA lesions has been well characterized ...
Becker, Bowles, Byron, Catherine Drennan, Chohan, Cintyu Wong, Clark, Delaney, Demple, Evensen, Falnes, Falnes, Fink, Frerman, Frick, Ghisla, Hamill, He, Husain, Johnson, Karran, Kim, Landini, Landini, Lenn, Leys, Maier, Marco Jost, Massey, Massey, Massey, Michael Hamill, Mulrooney, Nicholas Bene, Pace, Rippa, Roberts, Roberts, Rohankhedkar, Saenger, Samson, Sean Elliott, Sedgwick, Sedgwick, Sedgwick, Stankovich, Stiehler, Swanson, Toogood, Toogood, Trewick, Vetter, Volkert, Volkert   +53 more
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GLUTARIC ACIDEMIA TYPE 1: A CASE REPORT FROM PAKISTAN

Khyber Medical University Journal, 2022
INTRODUCTION: Glutaric aciduria type 1 is a neurometabolic disorder occurring due to deficient activity of glutaryl-CoA dehydrogenase. Multiple neurotoxic metabolites start accumulating in plasma, CSF and urine which are detected by mass spectrometry ...
Noshaba Noor, Hira Waseem
doaj   +1 more source