BioNano activities

Dissecting protein trafficking in retinal neurodegeneration

Cell Biophysics & Physical Biology

Project description

Inherited retinal dystrophies are highly genetically heterogeneous neurodegenerative disorders leading to blindness. In vivo protein trafficking studies in these highly polarized cells is still fragmentary, particularly on the connecting cilium. However, a gap remains at visualizing the dynamics of protein trafficking in mouse models of disease-causing mutations and their validation in the human context. We aim to fill this gap focusing in two retinal dystrophy genes, RD3 and CERKL, with super-resolution STED and Light Sheet microscopy imaging. We will map of photoreceptor protein trafficking. We will also highlight the key steps of RD3 and CERKL in ciliary pathways in living and fixed murine retinas and understand the yet unknown genotype-phenotype correlations in murine tissue and human ihPSCs. Finally, we will quantify the alterations caused by light and oxidative stress conditions, to unveil new therapeutic approaches.

ICFO groups associated with the project

External collaborations

Department of Genetics, UB. Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER)

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Fundació La Marató de TV3

▲ Dissecting protein trafficking in retinal neurodegeneration