Results 1 to 10 of about 5,677 (133)

A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1 [PDF]

Clinical Case Reports, 2021
Our findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in‐silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop.
Sima Rayat, Saeid Morovvati
doaj   +2 more sources

Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins. [PDF]

PLoS ONE, 2014
Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes in the mitochondrial matrix. GA1 patients are prone to the
Jessica Schmiesing, Hartmut Schlüter, Kurt Ullrich, Thomas Braulke, Chris Mühlhausen   +4 more
doaj   +2 more sources

Glutaryl-CoA dehydrogenase (GCDH) enhances renal malignancy risk via modulating glutarylcarnitine levels [PDF]

Discover Oncology
Background Crotonylation, a recently identified lysine acylation, plays a critical role in post-translational modifications [1]. It has been implicated in tumorigenesis by modulating metabolic reprogramming [2], DNA repair, immune evasion [3], and ...
Xuanshuo Liu, Bohua Chen, Jianghao Yuan, Shuhao Li, Lei Gao, Mingyan Chu, Shicang Fan, Weiwei Fan   +7 more
doaj   +2 more sources

Deglutarylation of glutaryl-CoA dehydrogenase by deacylating enzyme SIRT5 promotes lysine oxidation in mice. [PDF]

J Biol Chem, 2022
A wide range of protein acyl modifications has been identified on enzymes across various metabolic processes; however, the impact of these modifications remains poorly understood.
Bhatt DP, Mills CA, Anderson KA, Henriques BJ, Lucas TG, Francisco S, Liu J, Ilkayeva OR, Adams AE, Kulkarni SR, Backos DS, Major MB, Grimsrud PA, Gomes CM, Hirschey MD.   +14 more
europepmc   +3 more sources

High-resolution native electrophoresis in-gel activity assay reveals biological insights of medium-chain fatty acyl-CoA dehydrogenase deficiency [PDF]

Scientific Reports
Medium-chain specific acyl-CoA dehydrogenase (MCAD) is a mitochondrial homotetrameric flavoprotein that catalyzes the first step in fatty acid beta-oxidation.
Sergio Guerrero-Castillo, Alice Grün, Nicole Lewandowski, Polina Gundorova, Lisa Ela Blettenberger, Nora Constanze Laubach, Katrin Küchler, Madalena Barroso, Charlotte Uetrecht, Søren W. Gersting   +9 more
doaj   +2 more sources

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

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

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 Genetically Encoded Biosensor for Characterizing Transport and Metabolism of Glutarate [PDF]

Advanced Science
Glutarate is a platform chemical with diversified applications. It is also an endogenous metabolite involved in various physiological processes. Deficiency in glutaryl‐CoA dehydrogenase (GcdH) for glutarate catabolism induces the inherited metabolic ...
Kaiyu Gao, Hui Zhang, Yidong Liu, Xianzhi Xu, Wei Liu, Zhaoqi Kang, Rong Xu, Shuang Hou, Ping Han, Chuanjuan Lü, Cuiqing Ma, Ping Xu, Chao Gao   +12 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