Results 221 to 230 of about 17,667 (261)

Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

Neuropediatrics, 2003
The neurometabolic disorder glutaryl-CoA dehydrogenase (GCDH) deficiency is biochemically characterised by an accumulation of the marker metabolites 3-hydroxyglutaric acid, glutaric acid, and glutarylcarnitine. If untreated, the disease is complicated by
S. Kölker, G. Hoffmann, D. S. Schor, P. Feyh, L. Wagner, I. Jeffrey, M. Pourfarzam, J. Okun, J. Zschocke, I. Barić, Bain, C. Jakobs, Chalmers Ra   +12 more
semanticscholar   +1 more source

Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria)

The Journal of Pediatrics, 1979
The autosomal recessive inherited disorder glutaryl-CoA dehydrogenase deficiency (glutaric aciduria) runs a progressive course with severe choreoathetosis and dystonia, eventually leading to total helplessness and early death. Theree patients were observed during therapeutic trials with a protein-low diet, riboflavin and GABA analogue.
Niels Gregersen, Karsten Rasmussen, Ida Grøn, Ernst Christensen, Niels Jacob Brandt   +4 more
openaire   +3 more sources

Protective effects of L-carnitine on behavioral alterations and neuroinflammation in striatum of glutaryl-COA dehydrogenase deficient mice.

Archives of Biochemistry and Biophysics, 2021
Gilian Guerreiro, J. Faverzani, A. P. Moura, Vitoria Volfart, Bianca Gome Dos Reis, A. Sitta, E. Gonzalez, Gabriel de Lima Rosa, A. Coitinho, G. Baldo, M. Wajner, C. Vargas   +11 more
semanticscholar   +1 more source

The Effect of a Glu370Asp Mutation in Glutaryl-CoA Dehydrogenase on Proton Transfer to the Dienolate Intermediate^,

Biochemistry, 2007
We have determined steady-state rate constants and net rate constants for the chemical steps in the catalytic pathway catalyzed by the E370D mutant of glutaryl-CoA dehydrogenase and compared them with those of the wild-type dehydrogenase. We sought rationales for changes in these rate constants in the structure of the mutant cocrystallized with the ...
Frank E. Frerman, M Albro, S Baddam, B Narayanan, J.J Kim, Z Fu, K.S Rao, H.J Lee   +7 more
openaire   +3 more sources

Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer

Molecular Genetics and Metabolism, 2003
Jonna B. Westover, Stephen I. Goodman, Frank E. Frerman   +2 more
exaly   +2 more sources

Lipopolysaccharide-Elicited Systemic Inflammation Induces Selective Vulnerability of Cerebral Cortex and Striatum of Developing Glutaryl-CoA Dehydrogenase Deficient (Gcdh−/−) Mice to Oxidative Stress

Neurotoxicity research, 2020
B. Seminotti, A. U. Amaral, M. Grings, C. Ribeiro, G. Leipnitz, M. Wajner   +5 more
semanticscholar   +1 more source

Early signs and course of disease of glutaryl‐CoA dehydrogenase deficiency [PDF]

Journal of Inherited Metabolic Disease, 1995
Hoffmann GF, Bohles HJ, Burlina A, Duran M, Herwig J, Lehnert W, Leonard JV, Muntau A, Plecko-Starting PK, Superti-Furga A, Trefz FK, Christensen E   +11 more
openaire   +3 more sources

Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene

Metabolic brain disease, 2017
Ahmed Moseilhy, Magdy M. Hassan, H. E. El Abd, S. Mohammad, R. El Bekay, U. Abdel-Motal, A. Ouhtit, O. Zaki, H. Zayed   +8 more
semanticscholar   +2 more sources

Glutaryl-CoA dehydrogenase

1993
Margit Salzmann, Dietmar Schomburg, Dörte Stephan   +2 more
openaire   +2 more sources

Glutaryl-CoA dehydrogenase suppresses tumor progression and shapes an anti-tumor microenvironment in hepatocellular carcinoma.

Journal of Hepatology
Yuanxiang Lao, Xiaohan Cui, Zhu Xu, Hongyao Yan, Zechuan Zhang, Zhenwei Zhang, Longpo Geng, Binghua Li, Yijun Lu, Qifei Guan, Xiaohong Pu, Suwen Zhao, Jiapeng Zhu, X. Qin, Beicheng Sun   +14 more
semanticscholar   +1 more source