Justine Rousseau

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

This paper investigates how fibronectin mutations impair chondrogenesis in skeletal dysplasia by disrupting protein secretion and causing cellular stress in mesenchymal stem cells.

This study shows TBC1D24 regulates mitochondrial structure, activity, and ER-mitochondria contact sites, contributing to neurological disorders.

This study investigates the role of fibronectin isoforms in postnatal skeletal development using knockout mice, finding that combined deletion of both isoforms leads to skeletal defects and altered chondrogenesis.

This study identifies recurrent chromosomal translocations in sarcomas that merge NuA4/TIP60 and PRC2 complexes, leading to mislocalization of chromatin marks and aberrant gene expression.

The paper shows that minor and major spliceosomes interact to regulate alternative splicing around minor introns, linking this interaction to disease pathogenesis.

The paper reevaluates ERK3's role using new mouse models, finding that ERK3 kinase activity is necessary for post-natal growth but not for perinatal survival.

The paper identifies SMARCD1 mutations as a cause of intellectual disability and shows its role in regulating neuronal gene expression during development in Drosophila.