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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
- Bielas, Stephanie L;
- Silhavy, Jennifer L;
- Brancati, Francesco;
- Kisseleva, Marina V;
- Al-Gazali, Lihadh;
- Sztriha, Laszlo;
- Bayoumi, Riad A;
- Zaki, Maha S;
- Abdel-Aleem, Alice;
- Rosti, Rasim Ozgur;
- Kayserili, Hulya;
- Swistun, Dominika;
- Scott, Lesley C;
- Bertini, Enrico;
- Boltshauser, Eugen;
- Fazzi, Elisa;
- Travaglini, Lorena;
- Field, Seth J;
- Gayral, Stephanie;
- Jacoby, Monique;
- Schurmans, Stephane;
- Dallapiccola, Bruno;
- Majerus, Philip W;
- Valente, Enza Maria;
- Gleeson, Joseph G
Published Web Location
https://doi.org/10.1038/ng.423Abstract
Joseph Gleeson and colleagues show that mutations in INPP5E, encoding the enzyme inositol polyphosphate-5- phosphatase E, cause Joubert syndrome. Functional studies suggest that the mutations promote premature destabilization of cilia in response to stimulation.
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