Escher Pascal Lab

Retinal nuclear receptors

Nuclear receptors are a large family of ligand-activated transcription factors, acting as molecular switches in development, metabolism, homeostasis etc. Nuclear receptors are essential for proper retinal development, and, for instance, the absence of a functional photoreceptor-specific nuclear receptor NR2E3 causes a misspecification of dim light-sensitive rod versus bright light-sensitive cone photoreceptors (Goldmann-Favre syndrome, enhanced S-cone sensitivity syndrome), or a degeneration of rod photoreceptors (retinitis pigmentosa). In addition to these rare inherited retinal dystrophies, functions of the fatty acid-activated nuclear receptors PPARs (peroxisome proliferator-activated receptors) are evaluated in more frequent retinal diseases such as diabetic retinopathy and age-related macular degeneration. To identify the various disease mechanisms underlying nuclear receptor-linked retinal diseases we resort to structural and functional analyses in vitro, in cellular models and in vivo.