Results 11 to 20 of about 3,031 (152)

Lysine α-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases [PDF]

Frontiers in Molecular Neuroscience
The saccharopine pathway (SacPath) and the pipecolate pathway (PipPath) catabolize lysine to α-aminoadipate. Although the PipPath has been highlighted as the prominent route operating in the brain, recent work has demonstrated that the SacPath plays a ...
Gabriel Vieira Valderrama, Gabriel Vieira Valderrama, Gabriela Alves Moreira, Gabriela Alves Moreira, Paulo Arruda, Paulo Arruda, Paulo Arruda   +6 more
doaj   +2 more sources

Effects of targeted suppression of glutaryl-CoA dehydrogenase by lentivirus-mediated shRNA and excessive intake of lysine on apoptosis in rat striatal neurons. [PDF]

PLoS ONE, 2013
In glutaric aciduria type 1 (GA1), glutaryl-CoA dehydrogenase (GCDH) deficiency has been shown to be responsible for the accumulation of glutaric acid and striatal degeneration.
Jinzhi Gao, Cai Zhang, Xi Fu, Qin Yi, Fengyan Tian, Qin Ning, Xiaoping Luo   +6 more
doaj   +2 more sources

A low-excretor biochemical phenotype of glutaric aciduria type I: Identification of novel mutations in the glutaryl coa dehydrogenase gene and review of literature from India [PDF]

Annals of Indian Academy of Neurology, 2020
Muntaj Shaik, Mahesh Kamate, T P Kruthika-Vinod, Anakala Basappa Vedamurthy   +3 more
doaj   +2 more sources

Hepatic CBP/p300 Orchestrate Amino Acid‐Driven Gluconeogenesis through Histone Crotonylation

Advanced Science
The role of amino acid metabolism dysregulation in the development of type 2 diabetes remains elusive. Here, significant associations of human CREBBP/EP300 gene polymorphisms with circulating amino acid and glucose levels are reported. Through integrated
Chunxiang Sheng, Tianjiao Li, Hong Lin, Xiaoqin Ma, Feiye Zhou, Mingzhu Li, Yiru Wang, Shushu Wang, Jialin Tan, Junmin Chen, Yulin Yang, Jianmin Liu, Yufang Bi, Jieli Lu, Xiao Wang, Libin Zhou   +15 more
doaj   +2 more sources

GCDH Acetylation Orchestrates DNA Damage Response and Autophagy via Mitochondrial ROS to Suppress Hepatocellular Carcinoma Progression [PDF]

Research
Metabolic enzyme dysregulation promotes hepatocellular carcinoma (HCC) progression through metabolic reprogramming and lysine acetylation. Glutaryl-CoA dehydrogenase (GCDH), a key enzyme in lysine metabolism, has been demonstrated to play an essential ...
Wei Tian, Yue Yang, Lili Meng, Chao Ge, Yuqi Liu, Canxue Zhang, Zhihong Huang, Chi Zhang, Hua Tian   +8 more
doaj   +2 more sources

Crotonylation and the Risk of Head and Neck Cancer: Insights from a Two-Sample Mendelian Randomization Study [PDF]

International Dental Journal
Background: Head and neck cancer (HNC) remains a major global health burden with limited improvement in survival. Crotonylation has been implicated in tumour biology, but its causal contribution to HNC risk is unclear.
Danya Zhang, Xinjian Zhang, Huiying Li, Anqi Liang, Yelei Liang, Zhiping Wang, Shanwei Shi, Yang Ge, Wenfeng Gao, Xinpeng Liu   +9 more
doaj   +2 more sources

Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience [PDF]

Journal of Clinical and Diagnostic Research, 2017
Introduction: Glutaric aciduria type 1 is caused by deficiency of glutaryl-CoA dehydogenase leading to accumulation of glutarylcarnitine in blood and excretion of glutaric acid, 3-hyroxyglutaric acid and glutaconic acid in urine.
Ankur Singh, Rajniti Prasad, Seema Kapoor, Om Prakash Mishra   +3 more
doaj   +1 more source

A rare case of type i glutaric aciduria in an early child

Медицинский вестник Юга России, 2020
Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH).
A. A. Lebedenko, S. B. Berezhanskay, A. S. Todorova, N. N. Vostrykh, E. Y. Kaushanskay, E. A. Lukyanova, E. A. Papsheva, G. N. Smykova, L. N. Taranenko   +8 more
doaj   +1 more source

Microencephaly in macrocephaly: Rare report of two siblings with glutaric aciduria type 1

Annals of Movement Disorders, 2021
Glutaric aciduria type 1 is an autosomal recessive disorder caused by mutations in GCDH gene on chromosome 19 leading to the deficiency of glutaryl-CoA dehydrogenase which causes an abnormal metabolism of lysine, hydroxylysine and tryptophan with ...
Ayush Agarwal, Divyani Garg, Sangeeta Agarwal   +2 more
doaj   +1 more source

The Function of Arg-94 in the Oxidation and Decarboxylation of Glutaryl-CoA by Human Glutaryl-CoA Dehydrogenase [PDF]

Journal of Biological Chemistry, 2001
Glutaryl-CoA dehydrogenase catalyzes the oxidation and decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2). Inherited defects in the protein cause glutaric acidemia type I, a fatal neurologic disease. Glutaryl-CoA dehydrogenase is the only member of the acyl-CoA dehydrogenase family with a cationic residue, Arg-94, situated in the binding site of
T M, Dwyer, K S, Rao, J B, Westover, J J, Kim, F E, Frerman   +4 more
openaire   +2 more sources