Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Nature Genetics, Volume 45, No. 8, Year 2013
Notification
URL copied to clipboard!
Description
Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. Most NPHP gene products form molecular networks. Here we identify ANKS6 as a new NPHP family member that connects NEK8 (NPHP9) to INVS (NPHP2) and NPHP3. We show that ANKS6 localizes to the proximal cilium and confirm its role in renal development through knockdown experiments in zebrafish and Xenopus laevis. We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus. The oxygen sensor HIF1AN hydroxylates ANKS6 and INVS and alters the composition of the ANKS6-INVS-NPHP3 module. Knockdown of Hif1an in Xenopus results in a phenotype that resembles loss of other NPHP proteins. Network analyses uncovered additional putative NPHP proteins and placed ANKS6 at the center of this NPHP module, explaining the overlapping disease manifestation caused by mutation in ANKS6, NEK8, INVS or NPHP3. © 2013 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Hoff, Sylvia
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Germany, Freiburg Im Breisgau
Universität Freiburg
Halbritter, J.
United States, Boston
Boston Children's Hospital
Epting, Daniel
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Frank, Valeska
Germany, Ingelheim am Rhein
Center for Human Genetics
Nguyen, Thanh Minh T.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
van Reeuwijk, Jeroen V.
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Boehlke, Christopher
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Schell, Christoph B.
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Germany, Freiburg Im Breisgau
Universität Freiburg
Yasunaga, Takayuki
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Helmstädter, Martin
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Germany, Freiburg Im Breisgau
Universität Freiburg
Mergen, Miriam
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Filhol, Emilie
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Paris Descartes-sorbonne Paris Cité University
Boldt, Karsten
Germany, Tubingen
Eberhard Karls Universität Tübingen
Horn, Nicola
Germany, Tubingen
Eberhard Karls Universität Tübingen
Ueffing, Marius
Germany, Tubingen
Eberhard Karls Universität Tübingen
Germany, Oberschleissheim
Helmholtz Center Munich German Research Center for Environmental Health
Otto, Edgar A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Eisenberger, Tobias
Germany, Ingelheim am Rhein
Center for Human Genetics
Elting, Mariet W.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
van Wijk, Joanna A.E.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Böckenhauer, Detlef
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Sebire, Neil J.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Rittig, Soren
Denmark, Aarhus
Aarhus Universitetshospital
Vyberg, Mogens
Denmark, Aalborg
Aalborg Universitetshospital
Ring, Troels
Denmark, Aalborg
Aalborg Universitetshospital
Pohl, Martin
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Pape, Lars
Germany, Hannover
Hannover Medical School
Neuhaus, Thomas J.
Switzerland, Luzern
Children's Hospital, Luzern
Soliman Elshakhs, Neveen A.
Egypt, Giza
Cairo University
Koon, Sarah J.
United States, Rochester
Mayo Clinic
Harris, Peter C.
United States, Rochester
Mayo Clinic
Grahammer, Florian
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Huber, Tobias Bruno
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Germany, Freiburg Im Breisgau
Universität Freiburg
Kuehn, E. Wolfgang
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Germany, Freiburg Im Breisgau
Universität Freiburg
Zucker, Albrecht Kramer
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Bolz, Hanno Jörn
Germany, Ingelheim am Rhein
Center for Human Genetics
Germany, Koln
Uniklinik Köln
Roepman, Ronald
Netherlands, Nijmegen
Radboud Institute for Molecular Life Sciences
Saunier, Sophie
France, Paris
Hôpital Necker Enfants Malades
France, Paris
Paris Descartes-sorbonne Paris Cité University
Walz, Gerd
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Germany, Freiburg Im Breisgau
Universität Freiburg
Hildebrandt, Friedhelm
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Bergmann, Carsten
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Germany, Ingelheim am Rhein
Center for Human Genetics
Germany, Freiburg Im Breisgau
Universität Freiburg
Lienkamp, Soeren Sten
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Statistics
Citations: 178
Authors: 41
Affiliations: 21
Identifiers
Doi:
10.1038/ng.2681
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Noncommunicable Diseases