MTHFR variant links homocysteine metabolism and endothelial cell dysfunction by targeting mitophagy in human thoracic aortic dissection patient induced pluripotent stem cell (iPSC) models

doi:10.1016/j.jare.2025.02.032

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Article

MTHFR variant links homocysteine metabolism and endothelial cell dysfunction by targeting mitophagy in human thoracic aortic dissection patient induced pluripotent stem cell (iPSC) models

25 Feb 2025

Abstract excerpt

AIMS: Genetics and environmental cues boost the development of human diseases. Methylenetetrahydrofolate reductase (MTHFR) is involved in the metabolism of homocysteine, and a common variant rs1801133 of MTHFR has been reported in human cardiovascular diseases. This study aims to providing a novel strategy for patient stratification with specific genetic and metabolic screening, finally for personalized...

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PMID: 40015453
DOI: 10.1016/j.jare.2025.02.032

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