ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

@inproceedings{Hoff2013ANKS6IA,
  title={ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3},
  author={Sylvia Hoff and Jan Halbritter and Daniel Epting and Valeska Frank and Thanh-Minh T. Nguyen and Jeroen van Reeuwijk and Christopher Boehlke and Christoph Schell and Takayuki Yasunaga and Martin Helmstaedter and Miriam Mergen and E. L. Falcao Filhol and Karsten Boldt and Nicola Horn and Marius Ueffing and Edgar A. Otto and Tobias Eisenberger and M W Mariet Elting and Joanna A. E. van Wijk and Detlef Bockenhauer and Neil J Sebire and S{\o}ren Rittig and Mogens Vyberg and Troels Ring and Michael Pohl and Lars Pape and Thomas Jacob Neuhaus and Neveen A. Soliman Elshakhs and Sarah J. Koon and Peter C Harris and Florian Grahammer and Tobias B Huber and E Wolfgang Kuehn and Albrecht Kramer-Zucker and Hanno J Bolz and Ronald Roepman and S Andrea Saunier and Gerd Walz and Friedhelm Hildebrandt and Carsten Bergmann and Soeren S. Lienkamp},
  booktitle={Nature Genetics},
  year={2013}
}
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… CONTINUE READING
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