Malate dehydrogenase, cytoplasmic also known as malate dehydrogenase 1 is an enzyme that in humans is encoded by the MDH1 gene. [5] Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH …

Dec 25, 2024 · MDH1 (Malate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with MDH1 include Developmental And Epileptic Encephalopathy 88 and Developmental And Epileptic Encephalopathy 51. Among its related pathways are glycolysis (BioCyc) and Respiratory electron transport.

Jul 30, 2020 · Mechanistically, STAT3 transactivated MDH1 to sustain the malate-aspartate NADH shuttle activity and HSC self-renewal and differentiation. We reveal an unexpected metabolic program of FL-HSCs and provide a powerful genetic tool for metabolic studies of HSCs or other types of stem cells.

Feb 9, 2025 · Title: MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy. expression of miR-126-5p suppresses the enzymatic activity of MDH1, mitochondrial respiration and caused cell death in non-small cell lung carcinoma cell lines.

MDH1 encodes a cytosolic protein that functions in multiple pathways, including the malate-aspartate shuttle and gluconeogenesis. MDH2 encodes a mitochondrial protein that catalyzes an essential step in the citric acid cycle. MDH proteins have also been shown to affect other cellular functions. MDH1 was reported to

Mar 6, 2017 · We report the generation of malate through malate dehydrogenase 1 (MDH1) supports LDH to regenerate NAD during proliferation. MDH1 deletion in cancer cells slowed proliferation and glucose...

We now report two patients from an extended consanguineous family with a deleterious variant in the cytosolic isoenzyme of MDH (MDH1). The homozygous missense variant in the NAD + -binding domain of MDH1 led to severely diminished MDH protein expression.

Feb 9, 2025 · Clinical resource with information about MDH1, Developmental and epileptic encephalopathy, 88, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

MDH1 deficiency is a new metabolic defect in the malate-aspartate shuttle and is associated with a severe neurodevelopmental phenotype. expression of miR-126-5p suppresses the enzymatic activity of MDH1, mitochondrial respiration and caused cell …

Malate dehydrogenase 1 (MDH1) and isocitrate dehydrogenase 1 (IDH1) are two crucial enzymes in the process of energy metabolism. MDH1 plays a crucial role in the malate-aspartate shuttle in the cytoplasm by utilizing the coenzyme NAD/NADH to catalyze the interconversion of …