Corinne Antignac

Mapping intronic mutational hotspots by in silico mutagenesis enables single antisense oligonucleotide correction of multiple variants

The paper identifies deep intronic mutational hotspots using in silico mutagenesis and demonstrates that a single antisense oligonucleotide can correct multiple variants causing X-linked Alport syndrome.

Structure of the human KEOPS/tRNA complex and characterization of pathogenic variants responsible for the Galloway Mowat syndrome.

The paper determines the structure of the human KEOPS/tRNA complex and characterizes pathogenic variants in the t6A pathway linked to Galloway-Mowat syndrome.

Therapeutic splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of X-linked Alport syndrome

The paper demonstrates that ASO treatment restores 5(IV) collagen in XLAS patient-derived kidney organoids, supporting therapeutic potential for splicing modulation.

Cystinosin regulates kidney inflammation through its interaction with galectin-3

This study shows cystinosin regulates kidney inflammation by interacting with galectin-3, enhancing its lysosomal degradation and reducing macrophage infiltration in cystinosis.