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Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease

6 Jun 2025

Abstract excerpt

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is an incurable microvascular disease caused by C-terminus truncation of the TREX1 exonuclease. There is a pressing need to understand disease mechanisms and identify therapeutic targets. We evaluated TREX1 sequencing data from 469 229 UK Biobank participants together with RVCL-S-related microvascular clinical and imaging...

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PMID: 40476824
DOI: 10.1093/brain/awaf085

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