Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation
Moya-Molina, Marina, Dorgau, Birthe, Flood, Emily, Letteboer, Stef J. F., Lorentzen, Esben, Coxhead, Jonathan, Smith, Graham, Roepman, Ronald, Nagaraja Grellscheid, Sushma, Armstrong, Lyle, Lako, Majlinda
Published in Cell death & disease (01.10.2024)
Published in Cell death & disease (01.10.2024)
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FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies
DI GIOIA, Silvio Alessandro, LETTEBOER, Stef J. F, KOSTIC, Corinne, BANDAH-ROZENFELD, Dikla, HETTERSCHIJT, Lisette, SHARON, Dror, ARSENIJEVIC, Yvan, ROEPMAN, Ronald, RIVOLTA, Carlo
Published in Human molecular genetics (01.12.2012)
Published in Human molecular genetics (01.12.2012)
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OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
Coene, Karlien L.M., Roepman, Ronald, Doherty, Dan, Afroze, Bushra, Kroes, Hester Y., Letteboer, Stef J.F., Ngu, Lock H., Budny, Bartlomiej, van Wijk, Erwin, Gorden, Nicholas T., Azhimi, Malika, Thauvin-Robinet, Christel, Veltman, Joris A., Boink, Mireille, Kleefstra, Tjitske, Cremers, Frans P.M., van Bokhoven, Hans, de Brouwer, Arjan P.M.
Published in American journal of human genetics (09.10.2009)
Published in American journal of human genetics (09.10.2009)
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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
Saksens, Nicole T M, Krebs, Mark P, Schoenmaker-Koller, Frederieke E, Hicks, Wanda, Yu, Minzhong, Shi, Lanying, Rowe, Lucy, Collin, Gayle B, Charette, Jeremy R, Letteboer, Stef J, Neveling, Kornelia, van Moorsel, Tamara W, Abu-Ltaif, Sleiman, De Baere, Elfride, Walraedt, Sophie, Banfi, Sandro, Simonelli, Francesca, Cremers, Frans P M, Boon, Camiel J F, Roepman, Ronald, Leroy, Bart P, Peachey, Neal S, Hoyng, Carel B, Nishina, Patsy M, den Hollander, Anneke I
Published in Nature genetics (01.02.2016)
Published in Nature genetics (01.02.2016)
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The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/ threonine kinase
COENE, Karlien L. M, MANS, Dorus A, UEFFING, Marius, ROEPMAN, Ronald, BOLDT, Karsten, JOHANNES GLOECKNER, C, REEUWIJK, Jeroen Van, BOLAT, Emine, ROOSING, Susanne, LETTEBOER, Stef J. F, PETERS, Theo A, CREMERS, FransP. M
Published in Human molecular genetics (15.09.2011)
Published in Human molecular genetics (15.09.2011)
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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Roepman, Ronald, Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen, Ozyurek, Hamit, Farin, Federico M, Kroes, Hester Y, Wolfrum, Uwe, Brunner, Han G, Cremers, Frans P M, Glass, Ian A, Knoers, Nine V A M
Published in Nature genetics (01.07.2007)
Published in Nature genetics (01.07.2007)
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Journal Article
Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis or Leber Congenital Amaurosis-Associated Mutations
Ronald Roepman, Stef J. F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Krieger, Elmar, Ferreira, Paulo A., Frans P. M. Cremers, Nathans, Jeremy
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.2005)
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Journal Article
Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network
Di Gioia, Silvio Alessandro, Farinelli, Pietro, Letteboer, Stef J F, Arsenijevic, Yvan, Sharon, Dror, Roepman, Ronald, Rivolta, Carlo
Published in Human molecular genetics (15.06.2015)
Published in Human molecular genetics (15.06.2015)
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PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia
Faber, Siebren, Letteboer, Stef J F, Junger, Katrin, Butcher, Rossano, Tammana, Trinadh V Satish, van Beersum, Sylvia E C, Ueffing, Marius, Collin, Rob W J, Liu, Qin, Boldt, Karsten, Roepman, Ronald
Published in Cells (Basel, Switzerland) (01.01.2023)
Published in Cells (Basel, Switzerland) (01.01.2023)
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Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein
van Wijk, Erwin, Kersten, Ferry F.J., Kartono, Aileen, Mans, Dorus A., Brandwijk, Kim, Letteboer, Stef J.F., Peters, Theo A., Märker, Tina, Yan, Xiumin, Cremers, Cor W.R.J., Cremers, Frans P.M., Wolfrum, Uwe, Roepman, Ronald, Kremer, Hannie
Published in Human molecular genetics (01.01.2009)
Published in Human molecular genetics (01.01.2009)
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MPP1 links the Usher protein network and the Crumbs protein complex in the retina
Gosens, Ilse, van Wijk, Erwin, Kersten, Ferry F.J., Krieger, Elmar, van der Zwaag, Bert, Märker, Tina, Letteboer, Stef J.F., Dusseljee, Simone, Peters, Theo, Spierenburg, Henk A., Punte, Ingrid M., Wolfrum, Uwe, Cremers, Frans P.M., Kremer, Hannie, Roepman, Ronald
Published in Human molecular genetics (15.08.2007)
Published in Human molecular genetics (15.08.2007)
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MPP5 Recruits MPP4 to the CRB1 Complex in Photoreceptors
Kantardzhieva, Albena, Gosens, Ilse, Alexeeva, Svetlana, Punte, Ingrid M, Versteeg, Inge, Krieger, Elmar, Neefjes-Mol, Carla A, den Hollander, Anneke I, Letteboer, Stef J. F, Klooster, Jan, Cremers, Frans P. M, Roepman, Ronald, Wijnholds, Jan
Published in Investigative ophthalmology & visual science (01.06.2005)
Published in Investigative ophthalmology & visual science (01.06.2005)
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PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation
Corral-Serrano, Julio C., Lamers, Ideke J. C., van Reeuwijk, Jeroen, Duijkers, Lonneke, Hoogendoorn, Anita D. M., Yildirim, Adem, Argyrou, Nikoleta, Ruigrok, Renate A. A., Letteboer, Stef J. F., Butcher, Rossano, van Essen, Max D., Sakami, Sanae, van Beersum, Sylvia E. C., Palczewski, Krzysztof, Cheetham, Michael E., Liu, Qin, Boldt, Karsten, Wolfrum, Uwe, Ueffing, Marius, Garanto, Alejandro, Roepman, Ronald, Collin, Rob W. J.
Published in Proceedings of the National Academy of Sciences - PNAS (05.05.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (05.05.2020)
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FERM protein EPB41L5 is a novel member of the mammalian CRB–MPP5 polarity complex
Gosens, Ilse, Sessa, Alessandro, den Hollander, Anneke I., Letteboer, Stef J.F., Belloni, Valentina, Arends, Maarten L., Le Bivic, André, Cremers, Frans P.M., Broccoli, Vania, Roepman, Ronald
Published in Experimental cell research (15.11.2007)
Published in Experimental cell research (15.11.2007)
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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
Lamers, Ideke J.C., Reijnders, Margot R.F., Venselaar, Hanka, Kraus, Alison, Jansen, Sandra, de Vries, Bert B.A., Houge, Gunnar, Gradek, Gyri Aasland, Seo, Jieun, Choi, Murim, Chae, Jong-Hee, van der Burgt, Ineke, Pfundt, Rolph, Letteboer, Stef J.F., van Beersum, Sylvia E.C., Dusseljee, Simone, Brunner, Han G., Doherty, Dan, Kleefstra, Tjitske, Roepman, Ronald
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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Journal Article
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling
Frikstad, Kari-Anne M., Molinari, Elisa, Thoresen, Marianne, Ramsbottom, Simon A., Hughes, Frances, Letteboer, Stef J.F., Gilani, Sania, Schink, Kay O., Stokke, Trond, Geimer, Stefan, Pedersen, Lotte B., Giles, Rachel H., Akhmanova, Anna, Roepman, Ronald, Sayer, John A., Patzke, Sebastian
Published in Cell reports (Cambridge) (13.08.2019)
Published in Cell reports (Cambridge) (13.08.2019)
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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
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
Published in Journal of medical genetics (01.09.2017)
Published in Journal of medical genetics (01.09.2017)
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Journal Article
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
Boldt, Karsten, Mans, Dorus A, Won, Jungyeon, van Reeuwijk, Jeroen, Vogt, Andreas, Kinkl, Norbert, Letteboer, Stef J F, Hicks, Wanda L, Hurd, Ron E, Naggert, Jürgen K, Texier, Yves, den Hollander, Anneke I, Koenekoop, Robert K, Bennett, Jean, Cremers, Frans P M, Gloeckner, Christian J, Nishina, Patsy M, Roepman, Ronald, Ueffing, Marius
Published in The Journal of clinical investigation (01.06.2011)
Published in The Journal of clinical investigation (01.06.2011)
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Journal Article
Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
Estrada-Cuzcano, Alejandro, Neveling, Kornelia, Kohl, Susanne, Banin, Eyal, Rotenstreich, Ygal, Sharon, Dror, Falik-Zaccai, Tzipora C., Hipp, Stephanie, Roepman, Ronald, Wissinger, Bernd, Letteboer, Stef J.F., Mans, Dorus A., Blokland, Ellen A.W., Kwint, Michael P., Gijsen, Sabine J., van Huet, Ramon A.C., Collin, Rob W.J., Scheffer, H., Veltman, Joris A., Zrenner, Eberhart, den Hollander, Anneke I., Klevering, B. Jeroen, Cremers, Frans P.M.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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