Disease: Alpha-ketoglutarate dehydrogenase deficiency
- A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease
- A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle
- A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency
- Adipocyte-derived lactate is a signalling metabolite that potentiates adipose macrophage inflammation via targeting PHD2
- Adverse effects of polystyrene nanoplastic and its binary mixtures with nonylphenol on zebrafish nervous system: From oxidative stress to impaired neurotransmitter system
- Alpha ketoglutarate dehydrogenase deficiency
- Alpha-ketoglutarate dehydrogenase deficiency
- Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis
- An active glutamine/α-ketoglutarate/HIF-1α axis prevents pregnancy loss by triggering decidual IGF1<sup>+</sup>GDF15<sup>+</sup>NK cell differentiation
- Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
- Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency
- Dysmorphic Features, Frontal Cerebral Cavernoma, and Hyperglycemia in a Girl with a De Novo Deletion of 7.23 Mb in Region 7p13-p12.1
- Facial dysmorphism associated with ketoglutaric acid
- Glutamate dehydrogenase1 supports HIF-1α stability to promote colorectal tumorigenesis under hypoxia
- IDH2 Deficiency Promotes Endothelial Senescence by Eliciting miR-34b/c-Mediated Suppression of Mitophagy and Increased ROS Production
- L-serine biosynthesis in the human central nervous system: Structure and function of phosphoserine aminotransferase
- Lipoamide dehydrogenase (LADH) deficiency: medical perspectives of the structural and functional characterization of LADH and its pathogenic variants
- Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism
- Multiomics analysis couples mRNA turnover and translational control of glutamine metabolism to the differentiation of the activated CD4<sup>+</sup> T cell
- Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes
- Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
- Role of Impaired Glycolysis in Perturbations of Amino Acid Metabolism in Diabetes Mellitus
- Structural and Biochemical Investigation of Selected Pathogenic Mutants of the Human Dihydrolipoamide Dehydrogenase
- Succinate dehydrogenase/complex II is critical for metabolic and epigenetic regulation of T cell proliferation and inflammation
- The expanding clinical spectrum of mitochondrial diseases
- The negative impact of α-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation