Susan J. Hayflick

This study identifies CoA-mediated post-translational modification of TXNRD2 as a novel mechanism regulating the mitochondrial thioredoxin system to protect against ferroptosis.

This study identifies cardiac glycosides that restore autophagy and gene expression in an iPSC model of WDR45 deficiency, suggesting potential therapeutic applications for BPAN.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.