The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

doi:10.1038/ng1786

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Article

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

Nature genetics - 1 Jun 2006

Sayer John A, Otto Edgar A, O'Toole John F, Nurnberg Gudrun, Kennedy Michael A, Becker Christian, Hennies Hans Christian, Helou Juliana, Attanasio Massimo, Fausett Blake V, Utsch Boris, Khanna Hemant, Liu Yan, Drummond Iain, Kawakami Isao, Kusakabe Takehiro, Tsuda Motoyuki, Ma Li, Lee Hwankyu, Larson Ronald G, Allen Susan J, Wilkinson Christopher J, Nigg Erich A, Shou Chengchao, Lillo Concepcion, Williams David S, Hoppe Bernd, Kemper Markus J, Neuhaus Thomas, Parisi Melissa A, Glass Ian A, Petry Marianne, Kispert Andreas, Gloy Joachim, Ganner Athina, Walz Gerd, Zhu Xueliang, Goldman Daniel, Nurnberg Peter, Swaroop Anand, Leroux Michel R, Hildebrandt Friedhelm

Abstract excerpt

The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in Joubert syndrome are poorly understood. Using positional cloning, we here identify mutations in the gene CEP290 as causing nephronophthisis. It encodes a protein with several domains also present in CENPF, a protein...

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PMID: 16682973
DOI: 10.1038/ng1786

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ATF4
CENPF

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