CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
Joubert综合征中CEP41发生突变,而CEP41是纤毛处微管蛋白谷氨酰化所必需的。
期刊:Nature Genetics
影响因子:29
doi:10.1038/ng.1078
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