The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Sayer JA; Otto EA; O'Toole JF; Nurnberg G; Kennedy MA; Becker C; Hennies HC; Helou J; Attanasio M; Fausett BV; Utsch B; Khanna H; Liu Y; Drummond I; Kawakami I; Kusakabe T; Tsuda M; Ma L; Lee H; Larson RG; Allen SJ; Wilkinson CJ; Nigg EA; Shou C; Lillo C; Williams DS; Hoppe B; Kemper MJ; Neuhaus T; Parisi MA; Glass IA; Petry M; Kispert A; Gloy J; Ganner A; Walz G; Zhu X; Goldman D; Nurnberg P; Swaroop A; Leroux MR; Hildebrandt F; Nature Genetics, 2006, vol. 38, issue 6, p 674, ISSN 10614036. ISBN 10614036.

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