Results 1 to 10 of about 5,844 (206)

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1. [PDF]

Int J Mol Sci, 2023
Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed protein conformation can affect the biochemical phenotype.
Barroso M, Gertzen M, Puchwein-Schwepcke AF, Preisler H, Sturm A, Reiss DD, Danecka MK, Muntau AC, Gersting SW.   +8 more
europepmc   +6 more sources

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   +3 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   +4 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   +4 more sources

Probing conformational states of glutaryl-CoA dehydrogenase by fragment screening. [PDF]

Acta Crystallogr Sect F Struct Biol Cryst Commun, 2011
Glutaric acidemia type 1 is an inherited metabolic disorder which can cause macrocephaly, muscular rigidity, spastic paralysis and other progressive movement disorders in humans. The defects in glutaryl-CoA dehydrogenase (GCDH) associated with this disease are thought to increase holoenzyme instability and reduce cofactor binding.
Begley DW, Davies DR, Hartley RC, Hewitt SN, Rychel AL, Myler PJ, Van Voorhis WC, Staker BL, Stewart LJ.   +8 more
europepmc   +5 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   +4 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

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

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.
Niels Gregersen, N. J. Brandt
openalex   +3 more sources

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
Timothy M. Dwyer, K. Sudhindra Rao, Jonna B. Westover, Jung‐Ja P. Kim, Frank E. Frerman   +4 more
openalex   +4 more sources

Untargeted LC–HRMS of Dried Blood Spots Reveals Metabolic Alterations and Candidate Biomarkers in Glutaric Aciduria Type-1 [PDF]

Metabolites
Background: Glutaric aciduria type-1 (GA-1) is a genetic disorder caused by glutaryl-coenzyme A dehydrogenase deficiency, leading to the accumulation of glutaryl-CoA and its derivatives. Clinical manifestations include neurological abnormalities; however,
Ahmed H. Mujamammi, Tagreed A. Mazi, Reem H. AlMalki, Essa M. Sabi, Maha Al Mogren, Meshari Alwazae, Randh AlAhmari, Khalid M. Sumaily, Rajaa Sebaa, Anas M. Abdel Rahman   +9 more
doaj   +2 more sources