Ciliopathies

Cilia are microtubule-based plasma membrane protrusions emanating from a specialized centriole known as basal body. Conserved from unicellular eukaryotes to humans, cilia perform motor and sensory functions. Primary cilia are cellular antennae that specialize in the reception and transduction of signals, which can be optical (photons), mechanical (e.g. blood and urine flow) or chemical (odorants, hormones,...). Cilia dysfunction causes ciliopathies, diseases with diverse genetic origins, severity, prevalence, symptoms and organ involvement. In our lab, we study the molecular mechanisms controlling primary cilia composition and signaling functions.