Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain
Cevik, Sebiha, Sanders, Anna A W M, Van Wijk, Erwin, Boldt, Karsten, Clarke, Lara, van Reeuwijk, Jeroen, Hori, Yuji, Horn, Nicola, Hetterschijt, Lisette, Wdowicz, Anita, Mullins, Andrea, Kida, Katarzyna, Kaplan, Oktay I, van Beersum, Sylvia E C, Man Wu, Ka, Letteboer, Stef J F, Mans, Dorus A, Katada, Toshiaki, Kontani, Kenji, Ueffing, Marius, Roepman, Ronald, Kremer, Hannie, Blacque, Oliver E
Published in PLoS genetics (01.12.2013)
Published in PLoS genetics (01.12.2013)
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Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway
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Published in Cell reports (Cambridge) (03.05.2022)
Published in Cell reports (Cambridge) (03.05.2022)
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TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
Lambacher, Nils J., Bruel, Ange-Line, van Dam, Teunis J. P., Szymańska, Katarzyna, Slaats, Gisela G., Kuhns, Stefanie, McManus, Gavin J., Kennedy, Julie E., Gaff, Karl, Wu, Ka Man, van der Lee, Robin, Burglen, Lydie, Doummar, Diane, Rivière, Jean-Baptiste, Faivre, Laurence, Attié-Bitach, Tania, Saunier, Sophie, Curd, Alistair, Peckham, Michelle, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Thauvin-Robinet, Christel, Blacque, Oliver E.
Published in Nature cell biology (01.01.2016)
Published in Nature cell biology (01.01.2016)
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Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9
Dyke, Emma, Bijnagte-Schoenmaker, Chantal, Wu, Ka Man, Oudakker, Astrid, Roepman, Ronald, Nadif Kasri, Nael
Published in Stem cell research (01.04.2023)
Published in Stem cell research (01.04.2023)
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Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina
Eblimit, Aiden, Nguyen, Thanh-Minh T, Chen, Yiyun, Esteve-Rudd, Julian, Zhong, Hua, Letteboer, Stef, Van Reeuwijk, Jeroen, Simons, David L, Ding, Qian, Wu, Ka Man, Li, Yumei, Van Beersum, Sylvia, Moayedi, Yalda, Xu, Huidan, Pickard, Patrick, Wang, Keqing, Gan, Lin, Wu, Samuel M, Williams, David S, Mardon, Graeme, Roepman, Ronald, Chen, Rui
Published in Human molecular genetics (15.03.2015)
Published in Human molecular genetics (15.03.2015)
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A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
Oud, Machteld M, Bonnard, Carine, Mans, Dorus A, Altunoglu, Umut, Tohari, Sumanty, Ng, Alvin Yu Jin, Eskin, Ascia, Lee, Hane, Rupar, C Anthony, de Wagenaar, Nathalie P, Wu, Ka Man, Lahiry, Piya, Pazour, Gregory J, Nelson, Stanley F, Hegele, Robert A, Roepman, Ronald, Kayserili, Hülya, Venkatesh, Byrappa, Siu, Victoria M, Reversade, Bruno, Arts, Heleen H
Published in Cilia (London) (11.04.2016)
Published in Cilia (London) (11.04.2016)
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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Boldt, Karsten, van Reeuwijk, Jeroen, Lu, Qianhao, Koutroumpas, Konstantinos, Nguyen, Thanh-Minh T., Texier, Yves, van Beersum, Sylvia E. C., Horn, Nicola, Willer, Jason R., Mans, Dorus A., Dougherty, Gerard, Lamers, Ideke J. C., Coene, Karlien L. M., Arts, Heleen H., Betts, Matthew J., Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J. F., Marcelis, Carlo L., Mitic, Dragana, Morleo, Manuela, Oud, Machteld M., Riemersma, Moniek, Rix, Susan, Terhal, Paulien A., Toedt, Grischa, van Dam, Teunis J. P., de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L., Blacque, Oliver E., Gibson, Toby J., Huynen, Martijn A., Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E., Franco, Brunella, Giles, Rachel H., Ueffing, Marius, Russell, Robert B., Roepman, Ronald
Published in Nature communications (13.05.2016)
Published in Nature communications (13.05.2016)
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SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes
van Hugte, Eline J H, Lewerissa, Elly I, Wu, Ka Man, Scheefhals, Nicky, Parodi, Giulia, van Voorst, Torben W, Puvogel, Sofia, Kogo, Naoki, Keller, Jason M, Frega, Monica, Schubert, Dirk, Schelhaas, Helenius J, Verhoeven, Judith, Majoie, Marian, van Bokhoven, Hans, Nadif Kasri, Nael
Published in Brain (London, England : 1878) (01.12.2023)
Published in Brain (London, England : 1878) (01.12.2023)
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis
Oud, Machteld M, Latour, Brooke L, Bakey, Zeineb, Letteboer, Stef J, Lugtenberg, Dorien, Wu, Ka Man, Cornelissen, Elisabeth A M, Yntema, Helger G, Schmidts, Miriam, Roepman, Ronald, Bongers, Ernie M H F
Published in Cilia (London) (23.02.2018)
Published in Cilia (London) (23.02.2018)
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Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain: e1003977
Cevik, Sebiha, Sanders, A WM, Wijk, Erwin Van, Boldt, Karsten, Clarke, Lara, Reeuwijk, Jeroen van, Hori, Yuji, Horn, Nicola, Hetterschijt, Lisette, Wdowicz, Anita, Mullins, Andrea, Kida, Katarzyna, Kaplan, Oktay I, Beersum, E Cvan, Wu, Ka Man, Letteboer, Stef JF, Mans, Dorus A, Katada, Toshiaki, Kontani, Kenji, Ueffing, Marius, Roepman, Ronald, Kremer, Hannie, Blacque, Oliver E
Published in PLoS genetics (01.12.2013)
Published in PLoS genetics (01.12.2013)
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Journal Article
Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through cAMP/PKA pathway
Wang, Shan, Jon-Ruben Van Rhijn, Akkouh, Ibrahim A, Kogo, Naoki, Maas, Nadine, Bleeck, Anna, Irene Santisteban Ortiz, Lewerissa, Elly, Wu, Ka Man, Schoenmaker, Chantal, Djurovic, Srdjan, Hans Van Bokhoven, Kleefstra, Tjitske, Kasri, Nael Nadif, Schubert, Dirk
Published in bioRxiv (25.09.2021)
Published in bioRxiv (25.09.2021)
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