Search Results - "Letteboer, Stef J."

Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation by 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

“…Alternative splicing (AS) is a crucial mechanism contributing to proteomic diversity, which is highly regulated in tissue- and development-specific patterns…”
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OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin by 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.

“…We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier females suggested an X-linked…”
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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 by DI GIOIA, Silvio Alessandro, LETTEBOER, Stef J. F, KOSTIC, Corinne, BANDAH-ROZENFELD, Dikla, HETTERSCHIJT, Lisette, SHARON, Dror, ARSENIJEVIC, Yvan, ROEPMAN, Ronald, RIVOLTA, Carlo

“…Retinitis pigmentosa (RP) is a retinal degenerative disease characterized by the progressive loss of photoreceptors. We have previously demonstrated that RP…”
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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity by 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

“…Anneke den Hollander, Patsy Nishina and colleagues report heterozygous missense mutations in CTNNA1 in three families with butterfly-shaped pigment dystrophy…”
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The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/ threonine kinase by 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

“…Recent studies have established ciliary dysfunction as the underlying cause of a broad range of multi-organ phenotypes, known as 'ciliopathies'…”
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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome by 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

“…Protein-protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis (NPHP), Leber…”
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Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis or Leber Congenital Amaurosis-Associated Mutations by 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

“…RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR (retinitis pigmentosa GTPase…”
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Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network by Di Gioia, Silvio Alessandro, Farinelli, Pietro, Letteboer, Stef J F, Arsenijevic, Yvan, Sharon, Dror, Roepman, Ronald, Rivolta, Carlo

“…Defects in FAM161A, a protein of unknown function localized at the cilium of retinal photoreceptor cells, cause retinitis pigmentosa, a form of hereditary…”
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PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia by 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

“…Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane,…”
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Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein by 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

“…Usher syndrome (USH) and Leber congenital amaurosis (LCA) are autosomal recessive disorders resulting in syndromic and non-syndromic forms of blindness. In…”
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MPP1 links the Usher protein network and the Crumbs protein complex in the retina by 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

“…The highly ordered distribution of neurons is an essential feature of a functional mammalian retina. Disruptions in the apico-basal polarity complexes at the…”
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MPP5 Recruits MPP4 to the CRB1 Complex in Photoreceptors by 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

“…Mutations in the human Crumbs homologue 1 (CRB1) gene are a frequent cause of Leber congenital amaurosis (LCA) and various forms of retinitis pigmentosa. CRB1…”
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PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation by 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.

“…The outer segments (OS) of rod and cone photoreceptor cells are specialized sensory cilia that contain hundreds of opsin-loaded stacked membrane disks that…”
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FERM protein EPB41L5 is a novel member of the mammalian CRB–MPP5 polarity complex by 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

“…Cell polarity is induced and maintained by separation of the apical and basolateral domains through specialized cell–cell junctions. The Crumbs protein and its…”
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Versatile screening for binary protein-protein interactions by yeast two-hybrid mating by Letteboer, Stef J F, Roepman, Ronald

“…Identification of binary protein-protein interactions is a crucial step in determining the molecular context and functional pathways of proteins…”
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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype by 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

“…The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change…”
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A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling by 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

“…CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome,…”
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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa by 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

“…Recent findings suggesting that ( ) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense…”
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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice by 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

“…The mutations that cause Leber congenital amaurosis (LCA) lead to photoreceptor cell death at an early age, causing childhood blindness. To unravel the…”
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Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement by 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.

“…Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity…”
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