2024年12月25日 · MDH2 (Malate Dehydrogenase 2) is a Protein Coding gene. Diseases associated with MDH2 include Developmental And Epileptic Encephalopathy 51 and Hereditary Paraganglioma-Pheochromocytoma Syndromes. Among its related pathways are glycolysis (BioCyc) and Citric acid cycle (TCA cycle).

2022年11月16日 · Malate dehydrogenases (MDH) serve a critical role in maintaining equilibrium of the NAD+/NADH ratio between the mitochondria and cytosol through the catalysis of the oxidation of L-malate to oxaloacetate in a reversible, NADH-dependent manner. MDH2 encodes the mitochondrial isoform, which is …

2025年2月17日 · In this study, mitochondrial malate dehydrogenase (MDH2) was identified as a potential target for aging intervention utilizing a chemical probe designed based on Chl. We found that...

Malate dehydrogenase (MDH) is a ubiquitous and central enzyme in cellular metabolism, found in all kingdoms of life, where it plays vital roles in the cytoplasm and various organelles. It catalyzes the reversible NAD + -dependent reduction of L-malate to oxaloacetate.

MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic mutations in MDH2 in three unrelated ...

The MDH2 gene encodes the Krebs cycle enzyme mitochondrial malate dehydrogenase, which catalyzes the reversible oxidation of malate to oxaloacetate and plays a role in the malate-aspartate NADH shuttle (summary by Ait-El-Mkadem et al., 2017).

MDH2 has been associated with diabetes, neurodevelopmental disorders, and cancer. Malate dehydrogenase (MDH) performs key roles in metabolism, but little is known about its function specifically in human health and disease. In this minireview, we describe the incomplete state of our knowledge of human MDH genetics.

2025年2月9日 · Title: Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. Data indicate that acetyl-CoA acetyltransferase (ACAT1) and malate dehydrogenase (MDH2) are involved in various drug-resistance-forming mechanisms.

Urinary malate dehydrogenase 2 is a new biomarker for early detection of non-small-cell lung cancer. these data suggest that MDH2, functioning as an RNA-binding protein, is involved in the posttranscriptional downregulation of SCN1A expression under seizure condition.

2024年1月7日 · Clinical resource with information about MDH2, Developmental and epileptic encephalopathy, 51, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.