Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

  title={Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies},
  author={Stephanie L Bielas and Jennifer L. Silhavy and Francesco Brancati and Marina V. Kisseleva and Lihadh Al-Gazali and L{\'a}szl{\'o} K. Sztriha and R. A. L. Bayoumi and M S Zaki and Alice Abdel-Aleem and Ozgur Rosti and H{\"u}lya Kayserili and Dominika Swistun and Lesley C. Scott and Enrico Bertini and Eugen Boltshauser and Elisa Fazzi and Lorena Travaglini and Seth J. Field and St{\'e}phanie Gayral and Monique Jacoby and St{\'e}phane Schurmans and Bruno Dallapiccola and Philip W. Majerus and Enza Maria Valente and Joseph G Gleeson},
  booktitle={Nature Genetics},
Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that dynamically alter downstream signaling events. Joubert syndrome is characterized by a specific midbrain-hindbrain malformation ('molar tooth sign'), variably associated retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly and is included in the newly emerging group of 'ciliopathies'. In individuals with Joubert disease… CONTINUE READING


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