Article

Mitochondrial stress in Fabry disease

2025-09-19

Abstract excerpt

Fabry disease (FD) is clinically heterogeneous. As some GLA variants attain similar levels of residual activity but result in a range of phenotypes, our aim is to understand factors influencing phenotypic variability. The mitochondrial unfolded protein response (mtUPR) is a stress response mechanism activated by multiple forms of mitochondrial dysfunction including accumulation of misfolded protein. As mitochondri...

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Literature Corpus work: cb8d2dd6-94f8-5ef9-96db-5e38079bc46f
DOI: 10.1101/2025.09.16.676526

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