Justine Rousseau

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

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

TBC1D24 regulates mitochondria and endoplasmic reticulum-mitochondria contact sites

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

Role of Fibronectin in Postnatal Skeletal Development

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.

Recurrent chromosomal translocations in sarcomas create a mega-complex that mislocalizes NuA4/TIP60 to Polycomb target loci

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 minor and major spliceosome interact to regulate alternative splicing around minor introns

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

Reevaluation of the Role of ERK3 in Perinatal Survival and Post-Natal Growth Using New Genetically-Engineered Mouse Models

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.

Identification of SMARCD1 as a syndromic intellectual disability gene that is required for memory and context-dependent regulation of neuronal genes in Drosophila

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