Robert T. Dirksen

This study shows that iron toxicity enhances cell-type specific amyloid beta proteotoxicity in C. elegans at low temperatures by disrupting energy homeostasis and mitochondrial function.

This study shows that DMT1 knockout reduces iron-induced ferroptosis and mitigates neuronal dysfunction in C. elegans with amyloid beta overexpression.

This study shows exercise increases Piezo1 and Piezo2 in chondrocytes, reducing mechanical susceptibility to impact, with Piezo1 playing a key role in exercise-induced cartilage protection.

The paper updates ACMG/AMP criteria for RYR1-related MHS and classifies 251 variants, finding that many VUS classifications lack sufficient evidence and suggesting functional studies are needed.

The paper creates a zebrafish model of SPEG-related centronuclear myopathy that replicates human disease features and identifies shared pathomechanisms across CNM subtypes.

The paper develops and validates ACMG/AMP criteria for assessing RYR1 variant pathogenicity in malignant hyperthermia, using quantitative calibration and expert panel evaluation.

This study identifies drug modifiers for RYR1-related myopathy using a multi-species pipeline, finding p38 inhibition as a potential therapeutic strategy.