Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol sig...
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
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Author / Creator
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 and Gleeson, Joseph G
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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.
Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially a...
Alternative Titles
Full title
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_20937375
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_20937375
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.423
