Elke Krüger

The paper analyzes the expression and DNA methylation of 20S proteasome subunits across cancers, finding cancer-type dependent survival associations and functional pathway impacts.

This study shows that DDI2 activates NFE2L1 to protect cells from ferroptosis by regulating the ubiquitin-proteasome system.

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.

The paper identifies a PSMC3 variant causing a neurosensory syndrome with deafness and cataracts due to proteotoxic stress and impaired proteasome function.