Article

TXNIP is a critical regulator of human cardiometabolic health

2025-06-11

Abstract excerpt

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,...

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Literature Corpus work: 748e9d61-8e25-5bda-8d17-7ee108805f4d
DOI: 10.1101/2025.06.09.25328488

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