Pierre‐Emmanuel Gleizes

This study investigates VEXAS anemia, showing that UBA1 mutations affect erythroblast differentiation but not mature red cells, leading to a mosaic erythroblastopenia.

The paper identifies a dual key lock mechanism involving RIO1 and RPS26 that controls the final maturation step of 40S ribosomal subunits by displacing DIM2 and enabling NOB1-mediated cleavage of 18S rRNA.

This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.

This study identifies DDX27 as a regulator of skeletal muscle growth and regeneration by modulating translational processes and ribosome biogenesis in zebrafish.