Geoffray Monteuuis

The paper identifies a COA5 missense variant causing isolated mitochondrial complex IV assembly impairment in two siblings and validates its role in early CIV assembly using patient-derived cells and CRISPR/Cas9 knockout models.

The paper investigates the functional roles of 14 unique human mitochondrial ribosomal proteins in the small subunit, showing their essentiality in assembly and translation, with a redox-regulated role for mS37.

The paper shows that chronic myeloid leukemia patients in molecular remission still have widespread aberrant alternative splicing, unlike normal gene expression and DNA methylation patterns.