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

por Faber, Siebren, Roepman, Ronald
Publicado 2019

Moonlighting of mitotic regulators in cilium disassembly

por Doornbos, Cenna, Roepman, Ronald
Publicado 2021

A defective structural zipper in photoreceptors causes inherited blindness

por Faber, Siebren, Roepman, Ronald
Publicado 2022

PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion

por Afanasyeva, Tess A V, Schnellbach, Yan-Ting, Gibson, Toby J, Roepman, Ronald, Collin, Rob W J
Publicado 2022

A look into retinal organoids: methods, analytical techniques, and applications

por Afanasyeva, Tess A. V., Corral-Serrano, Julio C., Garanto, Alejandro, Roepman, Ronald, Cheetham, Michael E., Collin, Rob W. J.
Publicado 2021

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

por Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.
Publicado 2013

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme

por Faber, Siebren, Mercey, Olivier, Junger, Katrin, Garanto, Alejandro, May-Simera, Helen, Ueffing, Marius, Collin, Rob W.J., Boldt, Karsten, Guichard, Paul, Hamel, Virginie, Roepman, Ronald
Publicado 2023

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

por Renkema, Kirsten Y., Giles, Rachel H., Lilien, Marc R., Beales, Philip L., Roepman, Ronald, Oud, Machteld M., Arts, Heleen H., Knoers, Nine V. A. M.
Publicado 2018

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

por Doornbos, Cenna, van Beek, Ronald, Bongers, Ernie M. H. F., Lugtenberg, Dorien, Klaren, Peter. H. M., Vissers, Lisenka E. L. M., Roepman, Ronald, Oud, Machteld M.
Publicado 2021

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

por Lokaj, Mandy, Kösling, Stefanie K., Koerner, Carolin, Lange, Sven M., van Beersum, Sylvia E.C., van Reeuwijk, Jeroen, Roepman, Ronald, Horn, Nicola, Ueffing, Marius, Boldt, Karsten, Wittinghofer, Alfred
Publicado 2015

The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically

por Kersten, Ferry FJ, van Wijk, Erwin, Hetterschijt, Lisette, Bauβ, Katharina, Peters, Theo A, Aslanyan, Mariam G, van der Zwaag, Bert, Wolfrum, Uwe, Keunen, Jan EE, Roepman, Ronald, Kremer, Hannie
Publicado 2012

The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

por Benmerah, Alexandre, Durand, Bénédicte, Giles, Rachel H, Harris, Tess, Kohl, Linda, Laclef, Christine, Meilhac, Sigolène M, Mitchison, Hannah M, Pedersen, Lotte B, Roepman, Ronald, Swoboda, Peter, Ueffing, Marius, Bastin, Philippe
Publicado 2015

Novel GANAB variants associated with polycystic liver disease

por van de Laarschot, Liyanne F. M., te Morsche, René H. M., Hoischen, Alexander, Venselaar, Hanka, Roelofs, Hennie M., Cnossen, Wybrich R., Banales, Jesus M., Roepman, Ronald, Drenth, Joost P. H.
Publicado 2020

PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia

por 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
Publicado 2023

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

por 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.
Publicado 2018

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

por Kessler, Kristin, Wunderlich, Ina, Uebe, Steffen, Falk, Nathalie S., Gießl, Andreas, Helmut Brandstätter, Johann, Popp, Bernt, Klinger, Patricia, Ekici, Arif B., Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Roepman, Ronald, Seemanová, Eva, Thiel, Christian T.
Publicado 2015

A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome

por Aslanyan, Mariam G., Doornbos, Cenna, Diwan, Gaurav D., Anvarian, Zeinab, Beyer, Tina, Junger, Katrin, van Beersum, Sylvia E. C., Russell, Robert B., Ueffing, Marius, Ludwig, Alexander, Boldt, Karsten, Pedersen, Lotte B., Roepman, Ronald
Publicado 2023

SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium

por Dharmat, Rachayata, Eblimit, Aiden, Robichaux, Michael A., Zhang, Zhixian, Nguyen, Thanh-Minh T., Jung, Sung Yun, He, Feng, Jain, Antrix, Li, Yumei, Qin, Jun, Overbeek, Paul, Roepman, Ronald, Mardon, Graeme, Wensel, Theodore G., Chen, Rui
Publicado 2018

Primary cilia sense glutamine availability and respond via asparagine synthetase

por Steidl, Maria Elena, Nigro, Elisa A., Nielsen, Anne Kallehauge, Pagliarini, Roberto, Cassina, Laura, Lampis, Matteo, Podrini, Christine, Chiaravalli, Marco, Mannella, Valeria, Distefano, Gianfranco, Yang, Ming, Aslanyan, Mariam, Musco, Giovanna, Roepman, Ronald, Frezza, Christian, Boletta, Alessandra
Publicado 2023

CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids

por Afanasyeva, Tess A.V., Athanasiou, Dimitra, Perdigao, Pedro R.L., Whiting, Kae R., Duijkers, Lonneke, Astuti, Galuh D.N., Bennett, Jean, Garanto, Alejandro, van der Spuy, Jacqueline, Roepman, Ronald, Cheetham, Michael E., Collin, Rob W.J.
Publicado 2023