Results 1 to 10 of about 5,767 (207)

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   +4 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   +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

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1 [PDF]

Scientific Reports
Glutaric aciduria type 1 is caused by inherited deficiency of glutaryl-CoA dehydrogenase and subsequent accumulation of neurotoxic metabolites. Clinically, the disease is characterized by striatal damage and dystonic movement disorder in untreated ...
Celine Saad, Sabine Jung-Klawitter, Bianca Dimitrov, Juan Antonio Aguilar-Pimentel, Lore Becker, Patricia da Silva-Buttkus, Nathalia R. V. Dragano, Lillian Garrett, Sabine M. Hölter, Birgit Rathkolb, Adrián Sanz-Moreno, Nadine Spielmann, Helmut Fuchs, Valerie Gailus-Durner, Christian P. Schaaf, Giancarlo la Marca, Roberta Damiano, Dirk J. Lefeber, Udo Engelke, the CHARLIE Consortium, Martin Hrabe de Angelis, Sander M. Houten, Stefan Kölker   +22 more
doaj   +2 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

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

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   +4 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

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