EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO
Pablo Barbeito,
Raquel Martin-Morales,
Adrian Palencia-Campos
et al.
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. These ciliopathies are caused by mutations affecting the EVC-EVC2 complex, a transmembrane protein heterodimer that regulates Hedgehog signaling from… Show more
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