Publications by authors named "Ronald Roepman"

98Publications

Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia.

Biochim Biophys Acta Gen Subj 2020 01 11;1864(1):129433. Epub 2019 Sep 11.

Department of Pharmacology and Toxicology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S03044165193021
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http://dx.doi.org/10.1016/j.bbagen.2019.129433DOI Listing
January 2020

Balancing the Photoreceptor Proteome: Proteostasis Network Therapeutics for Inherited Retinal Disease.

Genes (Basel) 2019 07 24;10(8). Epub 2019 Jul 24.

Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.3390/genes10080557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6722924PMC
July 2019

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.

Front Pediatr 2018 7;6:131. Epub 2018 May 7.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

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http://dx.doi.org/10.3389/fped.2018.00131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949343PMC
May 2018

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.

Mol Ther 2018 06 21;26(6):1581-1593. Epub 2018 Mar 21.

Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Penn Vision Research Center, University of Pennsylvania Perelman, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2018.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986734PMC
June 2018

Non-syndromic retinitis pigmentosa.

Prog Retin Eye Res 2018 09 27;66:157-186. Epub 2018 Mar 27.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2018.03.005DOI Listing
September 2018

Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.

Hum Mol Genet 2017 11;26(21):4190-4202

Department of Human Genetics and Radboud Insitute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddx308DOI Listing
November 2017

Fluid shear stress increases transepithelial transport of Ca in ciliated distal convoluted and connecting tubule cells.

FASEB J 2017 05 18;31(5):1796-1806. Epub 2017 Jan 18.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands;

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http://dx.doi.org/10.1096/fj.201600687RRRDOI Listing
May 2017

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

PLoS Genet 2015 Oct 20;11(10):e1005575. Epub 2015 Oct 20.

Department of Otorhinolaryngology, Radboud University Medical Centre, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, the Netherlands.

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http://dx.doi.org/10.1371/journal.pgen.1005575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617701PMC
October 2015

The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function.

Structure 2015 Nov 9;23(11):2122-32. Epub 2015 Oct 9.

Max-Planck-Institute of Molecular Physiology, Emeritus Group, Otto-Hahn-Straße 15, 44227 Dortmund, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.str.2015.08.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4635315PMC
November 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

Am J Hum Genet 2014 Aug 10;95(2):131-42. Epub 2014 Jul 10.

Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129401PMC
August 2014

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Am J Med Genet A 2014 Jul 26;164A(7):1627-34. Epub 2014 Mar 26.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36501DOI Listing
July 2014

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.

Hum Mol Genet 2014 Aug 8;23(15):3923-42. Epub 2014 Mar 8.

Cell and Matrix Biology, Institute of Zoology, Focus Program Translational Neurosciences (FTN), Johannes Gutenberg University of Mainz, 55122 Mainz, Germany

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http://dx.doi.org/10.1093/hmg/ddu104DOI Listing
August 2014

Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry.

Mol Cell Proteomics 2014 May 21;13(5):1382-91. Epub 2014 Feb 21.

Division of Experimental Ophthalmology and Medical Proteome Center, Centre for Ophthalmology, University of Tübingen, 72076 Tübingen, Germany;

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http://dx.doi.org/10.1074/mcp.O113.033233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014293PMC
May 2014

Polycystic liver disease: ductal plate malformation and the primary cilium.

Trends Mol Med 2014 May 5;20(5):261-70. Epub 2014 Feb 5.

Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.molmed.2014.01.003DOI Listing
May 2014

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.

PLoS One 2013 6;8(11):e79369. Epub 2013 Nov 6.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands ; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079369PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819269PMC
August 2014

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

Hum Mol Genet 2012 Oct 26;21(R1):R111-24. Epub 2012 Jul 26.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/dds298DOI Listing
October 2012

Scrutinizing ciliopathies by unraveling ciliary interaction networks.

Hum Mol Genet 2011 Oct 23;20(R2):R149-57. Epub 2011 Aug 23.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddr354DOI Listing
October 2011

Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.

Invest Ophthalmol Vis Sci 2010 May 3;51(5):2338-46. Epub 2009 Dec 3.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.09-4650DOI Listing
May 2010

Tandem affinity purification of ciliopathy-associated protein complexes.

Methods Cell Biol 2009 1;91:143-60. Epub 2009 Dec 1.

Department of Protein Science, Helmholtz Zentrum München, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1016/S0091-679X(08)91009-8DOI Listing
July 2010

Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells.

J Biol Chem 2008 Dec 30;283(50):34753-61. Epub 2008 Sep 30.

Department of Biochemistry, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M807323200
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http://dx.doi.org/10.1074/jbc.M807323200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3259887PMC
December 2008

Leber congenital amaurosis: genes, proteins and disease mechanisms.

Prog Retin Eye Res 2008 Jul 1;27(4):391-419. Epub 2008 Jun 1.

Department of Human Genetics & Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S135094620800036
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http://dx.doi.org/10.1016/j.preteyeres.2008.05.003DOI Listing
July 2008

Versatile screening for binary protein-protein interactions by yeast two-hybrid mating.

Methods Mol Biol 2008 ;484:145-59

Department of Human Genetics Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/978-1-59745-398-1_10DOI Listing
February 2009

Focus on molecules: RPGRIP1.

Exp Eye Res 2009 Mar 8;88(3):332-3. Epub 2008 Apr 8.

Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, HB Nijmegen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S001448350800105
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http://dx.doi.org/10.1016/j.exer.2008.03.019DOI Listing
March 2009

Composition and function of the Crumbs protein complex in the mammalian retina.

Exp Eye Res 2008 May 26;86(5):713-26. Epub 2008 Feb 26.

Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein Zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.exer.2008.02.005DOI Listing
May 2008

A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes.

Proteomics 2007 Dec;7(23):4228-34

Institute of Human Genetics, GSF-National Research Center for Environment and Health, Neuherberg, Germany.

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http://dx.doi.org/10.1002/pmic.200700038DOI Listing
December 2007

Protein networks and complexes in photoreceptor cilia.

Subcell Biochem 2007 ;43:209-35

Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4020-5943-8_10DOI Listing
January 2008

FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.

Exp Cell Res 2007 Nov 7;313(19):3959-70. Epub 2007 Sep 7.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.yexcr.2007.08.025DOI Listing
November 2007

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.

Hum Mol Genet 2008 Jan 28;17(1):71-86. Epub 2007 Sep 28.

Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55099 Mainz, Germany.

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http://dx.doi.org/10.1093/hmg/ddm285DOI Listing
January 2008

Usher syndrome: molecular links of pathogenesis, proteins and pathways.

Hum Mol Genet 2006 Oct;15 Spec No 2:R262-70

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddl205DOI Listing
October 2006

Towards understanding CRUMBS function in retinal dystrophies.

Hum Mol Genet 2006 Oct;15 Spec No 2:R235-43

Institut für Genetik, Heinrich Heine Universität Düsseldorf, Universitätsstrasse 1, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.1093/hmg/ddl195DOI Listing
October 2006

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

Proc Natl Acad Sci U S A 2005 Dec 9;102(51):18520-5. Epub 2005 Dec 9.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1073/pnas.0505774102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1317916PMC
December 2005

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

Hum Mol Genet 2005 Dec 21;14(24):3933-43. Epub 2005 Nov 21.

Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Germany.

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http://dx.doi.org/10.1093/hmg/ddi417DOI Listing
December 2005