Article
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Nature genetics - 15 Jan 2012
Lee Ji Eun, Silhavy Jennifer L, Zaki Maha S, Schroth Jana, Bielas Stephanie L, Marsh Sarah E, Olvera Jesus, Brancati Francesco, Iannicelli Miriam, Ikegami Koji, Schlossman Andrew M, Merriman Barry, Attié-Bitach Tania, Logan Clare V, Glass Ian A, Cluckey Andrew, Louie Carrie M, Lee Jeong Ho, Raynes Hilary R, Rapin Isabelle, Castroviejo Ignacio P, Setou Mitsutoshi, Barbot Clara, Boltshauser Eugen, Nelson Stanley F, Hildebrandt Friedhelm, Johnson Colin A, Doherty Daniel A, Valente Enza Maria, Gleeson Joseph G
Abstract excerpt
Tubulin glutamylation is a post-translational modification that occurs predominantly in the ciliary axoneme and has been suggested to be important for ciliary function. However, its relationship to disorders of the primary cilium, termed ciliopathies, has not been explored. Here we mapped a new locus for Joubert syndrome (JBTS), which we have designated as JBTS15, and identified causative mutations in CEP41,...
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