Journal article

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

Hao Lu, Maria C Rondon Galeano, Elisabeth Ott, Geraldine Kaeslin, P Jaya Kausalya, Carina Kramer, Nadina Ortiz-Bruechle, Nadescha Hilger, Vicki Metzis, Milan Hiersche, Shang Yew Tay, Robert Tunningley, Shubha Vij, Andrew D Courtney, Belinda Whittle, Elke Wuehl, Udo Vester, Bjoern Hartleben, Steffen Neuber, Valeska Frank Show all

Nature Genetics | NATURE PUBLISHING GROUP | Published : 2017


Awarded by DFG Collaborative Research Centre

Awarded by Federal Ministry of Education and Research (BMBF)

Awarded by Australian NHMRC

Awarded by National Institutes of Health NIH

Funding Acknowledgements

The authors thank the patients and their families for their cooperation and interest in the study; M.T. Toh and Y.T. Koh for technical assistance; W.I. Goh of the Institute of Medical Biology's Microscopy Unit for assistance with super-resolution microscopy; J. Lefevre and N. Hamilton for advice on statistical analyses; and C. Cortes, M. Pitt, F. Olsson, L. Zhao, L. Wilkinson and P. Karaith Oliva for assistance, insightful discussion and advice. The authors also thank C. Has (University Medical Center Freiburg) for kindly providing control fibroblasts; S. Somlo, M. Ma and K. Dong (Yale University) for Pkd1- and Pkd2-mutant cells; L. Lei (Nanyang Technological University) for the RPE-1 cell line stably expressing Arl13b-GFP; L. Pelletier (Lunenfeld-Tanenbaum Research Institute) for basal-body and transition-zone-protein cDNA clones; and R. Witzgall (Institute for Molecular and Cellular Anatomy, University of Regensburg), G. Wu (Center of Translational Cancer Research and Therapy, Beijing) and R. Rohatgi (Stanford University) for antibodies. We also thank the staff of the University of Queensland (UQ) QBP animal house for assistance with mouse husbandry and the Australian Phenomics Facility for maintaining mice throughout the screen. Confocal microscopy at UQ was carried out at the Institute for Molecular Bioscience Dynamic Imaging Facility for Cancer Biology, which is funded through the generous support of the Australian Cancer Research Foundation. We also acknowledge the Australian Microscopy & Microanalysis Facility (AMMRF) at the Centre for Microscopy and Microanalysis at UQ. M.H., S. N., V.F. and C.B. are supported as employees of Bioscientia/Sonic Healthcare; C.W. was supported as a recipient of a University of Queensland Vice-Chancellor's Senior Research Fellowship; and S. R. is supported as a Senior Principal Investigator at the Institute of Molecular and Cell Biology, Singapore. M.H. L. is supported as a Senior Principal Research Fellow of the Australian National Health and Medical Research Council (NHMRC). F.H. is supported as the Warren E. Grupe Professor. This work was supported by grants from the German Research Fund (DFG) to K.Z. and C.B., the DFG Collaborative Research Centre (SFB) KIDGEM 1140 and the Federal Ministry of Education and Research (BMBF, 01GM1515C) to C.B., the Australian NHMRC (APP1045464) to C.W., the National Institutes of Health NIH (DK068306) to F.H. and the Agency for Science, Technology and Research (A*STAR) of Singapore to W.H. and S.R. This paper is dedicated to the memory of Markus Nauck, who recently passed away.