Nicolas Goudin

The paper shows primary cilia on kidney tubular cells initiate a fibro-inflammatory program in response to bacterial components, linking pathogen detection to kidney disease progression.

This study identifies rare RYR3 variants causing recurrent rhabdomyolysis by impairing autophagy and mitochondrial function, highlighting RyR3's role in muscle stress adaptation.

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

This study evaluates prostaglandin receptor agonists and eupatilin for their ability to rescue ciliogenesis defects and reduce cyst size in nephronophthisis models.

This study shows that Taprenepag, a PGE2 receptor agonist, improves cilia formation and light sensitivity in CEP290-deficient models by stimulating cAMP synthesis.

This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.