Lene Juel Rasmussen

This study identifies BNIP3L/NIX-mediated mitophagy as a critical pathway that limits Alzheimer's disease pathology and preserves neuronal function by maintaining mitochondrial health and reducing proteotoxicity.

This study shows that dPGC1 limits Yki-driven oncogenic growth in Drosophila by regulating mitochondrial dynamics and cell cycle regulation.

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

This study identifies MRE11A as a negative regulator of human DNA mismatch repair, showing its role in modulating DNA damage signals and MMR activity through interactions with MLH1 and PMS2.