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TXNIP is a critical regulator of human cardiometabolic health

2025-06-11 cardiovascular medicine Title + abstract only
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Thioredoxin interacting protein, encoded by TXNIP, is a key mediator of glucose and lipid metabolism in preclinical models. However, its role in human metabolism is not well understood. We have characterized a cohort of individuals with biallelic pathogenic variants in TXNIP who exhibit lactic acidosis, dyslipidemia, adult-onset severe cardiomyopathy, hypoglycemia, and skeletal muscle weakness. Mechanistically, TXNIP dysfunction was associated with increased fatty acid synthesis and complex rear...

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