Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies-Reference-Cited by-同舟云学术

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Published:2009-08-09 Issue:9 Volume:41 Page:1032-1036
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.423.pdf

Reference33 articles.

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2. Valente, E.M., Brancati, F. & Dallapiccola, B. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur. J. Med. Genet. 51, 1–23 (2008).

3. Saar, K. et al. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 65, 1666–1671 (1999).

4. Valente, E.M. et al. Distinguishing the four genetic causes of Joubert syndrome-related disorders. Ann. Neurol. 57, 513–519 (2005).

5. Tsujishita, Y., Guo, S., Stolz, L.E., York, J.D. & Hurley, J.H. Specificity determinants in phosphoinositide dephosphorylation: crystal structure of an archetypal inositol polyphosphate 5-phosphatase. Cell 105, 379–389 (2001).

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