EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.

Citation:
Barbeito P, Martin-Morales R, Palencia-Campos A, ……. Caparros-Martin JA, Martin-Bravo C, et al. EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO. Front Cell Dev Biol. 2023;11:1190258.

Keywords:
Ellis van Creveld syndrome; Hedgehog signaling; SUMO; Weyers acrofacial dysostosis; cilia; ciliopathy; interactome; ubiquitin

Abstract:
Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.