2024年12月25日 · 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.

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 …

线粒体mdh2参与三羧酸循环，细胞质mdh1参与nadh的转运（苹果酸穿梭）过程，联系着糖酵解与氧化磷酸化。 有研究认为肿瘤的代谢调控与MDH密切相关（Oncogene. 2017 Jul 6;36(27):3915-3924.）。

该基因编码细胞溶质同工酶，它在苹果酸-天冬氨酸穿梭中起着关键作用，它允许苹果酸穿过线粒体膜，转化为草酰乙酸，用于进一步的细胞过程。 已发现该基因的可变剪接转录物变体。 最近的一项研究表明，通过终止密码子通读机制使用替代的框内翻译终止密码子，可以产生 C 末端扩展的同种型，并且这种同种型位于过氧化物酶体中。 已在 X 和 6 号染色体上鉴定出假基因。 [RefSeq 提供，2016 年 2 月]

2025年3月25日 · 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 malate and oxaloacetate.

2025年2月9日 · 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.

2020年7月30日 · 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.

2017年3月6日 · 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...

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 …

m-MDH 1 在线粒体内主要催化苹果酸脱氢（氧化）， l 是三羧酸循环中的重要酶之一， l 对体内营养物质的彻底氧化或相互转变均起重要作用， l c-MDH 1 主要催化草酰乙酸加氢（还原）， l 是苹果酸穿梭系统保证胞液中糖酵解生成的NADH 1 进入线粒体， l 彻底氧化产能的重要酶类。 MDH 1 在人体的心肌、 i 骨骼肌及肾等组织中含量最为丰富。