Usherin defects lead to early-onset retinal dysfunction in zebrafish

Authors: Dona, Margo, Slijkerman, Ralph, Lerner, Kimberly, Broekman, Sanne, Wegner, Jeremy, Howat, Taylor, Peters, Theo, Hetterschijt, Lisette, Boon, Nanda, de Vrieze, Erik, Sorusch, Nasrin, Wolfrum, Uwe, Kremer, Hannie, Neuhauss, Stephan, Zang, Jingjing, Kamermans, Maarten, Westerfield, Monte, Phillips, Jennifer, van Wijk, Erwin

Source: In Experimental Eye Research August 2018 173:148-159

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A

Authors: Slijkerman, Ralph, Goloborodko, Alexander, Broekman, Sanne, de Vrieze, Erik, Hetterschijt, Lisette, Peters, Theo, Gerits, Milou, Kremer, Hannie, van Wijk, Erwin

Source: Zebrafish. 15(6):597-609

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100072370460.0x000001&indx=1&recIds=ETOCvdc_100072370460.0x000001

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Authors: Slijkerman, Radulfus WN ^**, Vaché, Christel ^**, Dona, Margo, García-García, Gema, Claustres, Mireille, Hetterschijt, Lisette, Peters, Theo A, Hartel, Bas P, Pennings, Ronald JE, Millan, José M, Aller, Elena, Garanto, Alejandro, Collin, Rob WJ, Kremer, Hannie, Roux, Anne-Françoise ^*, Van Wijk, Erwin ^{*, *}

Source: In Molecular Therapy - Nucleic Acids 2016 5

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Authors: Boldt, Karsten, de Baere, Elfride, Klaver, Caroline C.W., Coppieters, Frauke, Koolen, David A., Lugtenberg, Dorien, Neveling, Kornelia, van Reeuwijk, Jeroen, Ueffing, Marius, van Beersum, Sylvia E.C., Zonneveld-Vrieling, Marijke N., Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.

Source: In The American Journal of Human Genetics 7 August 2014 95(2):131-142

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Authors: Collin, Rob W. J., Nikopoulos, Konstantinos, Dona, Margo, Gilissen, Christian, Hoischen, Alexander, Boonstra, F. Nienke, Poulter, James A., Kondo, Hiroyuki, Berger, Wolfgang, Toomes, Carmel, Tahira, Tomoko, Mohn, Lucas R., Blokland, Ellen A., Hetterschijt, Lisette, Ali, Manir, Groothuismink, Johanne M., Duijkers, Lonneke, Inglehearn, Chris F., Sollfrank, Lea, Strom, Tim M., Uchio, Eiichi, van Nouhuys, C. Erik, Kremer, Hannie, Veltman, Joris A., van Wijk, Erwin, Cremers, Frans P. M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2013 Jun 01. 110(24), 9856-9861.

Access URL: https://www.jstor.org/stable/42706095

Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Authors: Yariz, Kemal O., Duman, Duygu, Zazo Seco, Celia, Dallman, Julia, Huang, Mingqian, Peters, Theo A., Sirmaci, Asli, Lu, Na, Schraders, Margit, Skromne, Isaac, Oostrik, Jaap, Diaz-Horta, Oscar, Young, Juan I., Tokgoz-Yilmaz, Suna, Konukseven, Ozlem, Shahin, Hashem, Hetterschijt, Lisette, Kanaan, Moien, Oonk, Anne M.M., Edwards, Yvonne J.K., Li, Huawei, Atalay, Semra, Blanton, Susan, DeSmidt, Alexandra A., Liu, Xue-Zhong, Pennings, Ronald J.E., Lu, Zhongmin, Chen, Zheng-Yi, Kremer, Hannie, Tekin, Mustafa

Source: In The American Journal of Human Genetics 2 November 2012 91(5):872-882

The renal cell carcinoma-associated oncogenic fusion protein PRCCTFE3 provokes p21 WAF1/CIP1-mediated cell cycle delay

Authors: Medendorp, Klaas, van Groningen, Jan J.M., Vreede, Lilian, Hetterschijt, Lisette, Brugmans, Linda, van den Hurk, Wilhelmina H., Geurts van Kessel, Ad ^⁎

Source: In Experimental Cell Research 2009 315(14):2399-2409

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

Authors: Bachmann-Gagescu, Ruxandra^1,2, ruxandra.bachmann@imls.uzh.ch, Dona, Margo^3,4, Hetterschijt, Lisette^3,4, Tonnaer, Edith³, Peters, Theo³, de Vrieze, Erik^3,4, Mans, Dorus A.^4,5, van Beersum, Sylvia E. C.^4,5, Phelps, Ian G.⁶, Arts, Heleen H.^4,5,7, Keunen, Jan E.⁸, Ueffing, Marius⁹, Roepman, Ronald^4,5, Boldt, Karsten⁹, Doherty, Dan⁶, Moens, Cecilia B.¹⁰, Neuhauss, Stephan C. F.¹, Kremer, Hannie^3,4,5, van Wijk, Erwin^3,4, erwin.vanWyk@radboudumc.nl

Source: PLoS Genetics; 10/20/2015, Vol. 11 Issue 10, p1-28, 28p

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.

Authors: Dona, Margo^1,2, Bachmann-Gagescu, Ruxandra^3,4, Texier, Yves⁵, Toedt, Grischa⁶, Hetterschijt, Lisette^2,7, Tonnaer, Edith L.¹, Peters, Theo A.¹, van Beersum, Sylvia E. C.^2,7, Bergboer, Judith G. M.⁷, Horn, Nicola⁵, de Vrieze, Erik^1,2, Slijkerman, Ralph W. N.^1,2, van Reeuwijk, Jeroen^2,7, Flik, Gert⁸, Keunen, Jan E.⁹, Ueffing, Marius⁵, Gibson, Toby J.⁶, Roepman, Ronald^2,7, Boldt, Karsten⁵, Kremer, Hannie^1,2,7

Source: PLoS Genetics; 10/20/2015, Vol. 11 Issue 10, p1-28, 28p

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Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain.

Authors: Cevik, Sebiha¹, Sanders, Anna A. W. M.¹, Van Wijk, Erwin^2,3,4, Boldt, Karsten⁵, Clarke, Lara¹, van Reeuwijk, Jeroen^3,6,7, Hori, Yuji⁸, Horn, Nicola⁵, Hetterschijt, Lisette⁶, Wdowicz, Anita¹, Mullins, Andrea¹, Kida, Katarzyna¹, Kaplan, Oktay I.^1,9, van Beersum, Sylvia E. C.^3,6,7, Man Wu, Ka^3,6,7, Letteboer, Stef J. F.^3,6,7, Mans, Dorus A.^3,6,7, Katada, Toshiaki⁸, Kontani, Kenji⁸, Ueffing, Marius^5,10

Source: PLoS Genetics; Dec2013, Vol. 9 Issue 12, p1-18, 18p

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Missense mutations in the WD40 domain of AHI1cause non-syndromic retinitis pigmentosa

Authors: Nguyen, Thanh-Minh T, Hull, Sarah, Roepman, Ronald, van den Born, L Ingeborgh, Oud, Machteld M, de Vrieze, Erik, Hetterschijt, Lisette, Letteboer, Stef J F, van Beersum, Sylvia E C, Blokland, Ellen A, Yntema, Helger G, Cremers, Frans P M, van der Zwaag, Paul A, Arno, Gavin, van Wijk, Erwin, Webster, Andrew R, Haer-Wigman, Lonneke

Source: Journal of Medical Genetics (JMG); 2017, Vol. 54 Issue: 9 p624-632, 9p

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