Studying Ciliary Signaling in Development and Disease

Project Information

SCilS

Grant agreement ID: 861329

DOI

10.3030/861329

Project closed

EC signature date 12 August 2019

Start date 1 January 2020

End date 30 June 2024

Funded under

• EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions

Total cost

€ 3 844 874,16

EU contribution

€ 3 844 874,16

Coordinated by

STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM
Netherlands

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Deliverables

Websites, patent fillings, videos etc. (2)

ESR weblogs, podcasts, vlogs done

D4.2 ESR weblogs, podcasts, vlogs done

SCilS website

D51 SCilS webiste

Other (2)

Potential inputs for policy feedback

potential inputs for policy feedback (if applicable).Added to part B of Annex 1

Final Symposium

D5.2 Final Symposium

Publications

Peer reviewed articles (18)

Biallelic KIF24 variants are responsible for a spectrum of skeletal disorders ranging from lethal skeletal ciliopathy to severe acromesomelic dysplasia

Author(s): ML Reilly, N ul Ain, M Muurinen, A Tata, C Huber, M Simon, T Ishaq, N Shaw, S Rusanen, M Pekkinen, W Högler, MFCM Knapen, M van den Born, S Saunier, S Naz, V Cormier-Daire, A Benmerah and O Makitie
Published in: Journal of Bone and Mineral Research, Issue volume 37, issue 9, 2022, Page(s) 1642-1652, ISSN 1523-4681
Publisher: American Society for Bone and Mineral Research
DOI: 10.1002/jbmr.4639

Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4

Author(s): Meriem Garfa Traoré, Federica Roccio, Caterina Miceli, Giulia Ferri, Mélanie Parisot, Nicolas Cagnard, Marie Lhomme, Nicolas Dupont, Alexandre Benmerah, Sophie Saunier, Marion Delous
Published in: Front Mol Biosci, Issue volume 10, 2023, ISSN 2296-889X
Publisher: Frontiers Media S.A.
DOI: 10.3389/fmolb.2023.1254691

Primary cilia sense glutamine availability and respond via asparagine synthetase

Author(s): Maria Elena Steidl, Elisa A Nigro, Anne Kallehauge Nielsen, Roberto Pagliarini, Laura Cassina, Matteo Lampis, Christine Podrini, Marco Chiaravalli, Valeria Mannella, Gianfranco Distefano, Ming Yang, Mariam Aslanyan, Giovanna Musco, Ronald Roepman, Christian Frezza, Alessandra Boletta
Published in: Nature metabolism, Issue 2023 Mar 6, 2023, ISSN 2522-5812
Publisher: Springer Nature
DOI: 10.1038/s42255-023-00754-6

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa

Author(s): Kae R. Whiting, Lonneke Haer-Wigman, Ralph J. Florijn, Ronald van Beek, Machteld M. Oud, Astrid S. Plomp, Camiel J. F. Boon, Hester Y. Kroes, Ronald Roepman
Published in: European Journal of Human Genetics, Issue 28 May 2024, 2024, ISSN 1018-4813
Publisher: Natue Publishing Group
DOI: 10.1038/s41431-024-01627-6

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis

Author(s): Alice Tata, Guillaume Rocha, Marguerite Hureaux, Alice S. Serafin, Esther Porée, Lucie Menguy, Nicolas Goudin, Nicolas Cagnard, Lilian Gréau, Marc Fila, Luis Briseño-Roa, Jean-Philippe Annereau, So
Published in: Kidney International Reports, Issue 10, 2025, Page(s) 2821-2835, ISSN 2468-0249
Publisher: Elsevier BV
DOI: 10.1016/j.ekir.2025.04.060

Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9

Author(s): Emma Dyke, Chantal Bijnagte-Schoenmaker, Ka Man Wu, Astrid Oudakker, Ronald Roepman, Nael Nadif Kasri
Published in: Stem cell Research, Issue volume 68, 103053, 2023, Page(s) 1-5, ISSN 1873-5061
Publisher: Elsevier
DOI: 10.1016/j.scr.2023.103053

Primary cilia as architects of the neocortex: Roles in brain development, function, and microcephaly

Author(s): Oskar Kaaber Thomsen, Jindřiška Leischner Fialová, Canan Doganli, Cristian Herrera-Cid, Kjeld Møllgård, Alexandre Benmerah, Lars Allan Larsen, Søren Tvorup Christensen
Published in: Developmental Cell, Issue 60. December 15,2025, 2025, ISSN 1534-5807
Publisher: Cell Press
DOI: 10.1016/j.devcel.2025.11.002

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

Author(s): Marina Moya-Molina, Birthe Dorgau, Emily Flood, Stef J. F. Letteboer, Esben Lorentzen, Jonathan Coxhead, Graham Smith, Ronald Roepman, Sushma Nagaraja Grellscheid, Lyle Armstrong, Majlinda Lako
Published in: Cell Death & Disease, Issue 15, 2024, ISSN 2041-4889
Publisher: Nature Publishing Group
DOI: 10.1038/s41419-024-07105-7

Biochemically validated structural model of the 15-subunit intraflagellar transport complex IFT-B

Author(s): Narcis A Petriman, Marta Loureiro-López, Michael Taschner, Nevin K Zacharia, Magdalena M Georgieva, Niels Boegholm, Jiaolong Wang, André Mourão, Robert B Russell, Jens S Andersen, Esben Lorentzen
Published in: The EMBO Journal, Issue e112440, 2022, Page(s) 1-26, ISSN 0261-4189
Publisher: Nature Publishing Group
DOI: 10.15252/embj.2022112440

IL1β is induced in nephronophthisis but does not mediate kidney damage

Author(s): Giulia Ferri, Mariyam El Hamdaoui, Joran Martin, E. Wolfgang Kuehn, Frank Bienaimé, Sophie Saunier, Amandine Viau
Published in: Genes & Diseases, Issue 13, 2025, Page(s) 101687, ISSN 2352-3042
Publisher: Elsevier BV
DOI: 10.1016/j.gendis.2025.101687

WeSA: a web server for improving analysis of affinity proteomics data

Author(s): Magdalena M Shtetinska, Juan-Carlos González-Sánchez, Tina Beyer, Karsten Boldt, Marius Ueffing, Robert B Russell
Published in: Nucleic Acids Research, Issue 52, 2024, Page(s) W333-W340, ISSN 0305-1048
Publisher: Oxford University Press
DOI: 10.1093/nar/gkae423

Interactome analysis reveals a link of the novel ALMS1-CEP70 complex to centrosomal clusters

Author(s): Franziska Woerz, Felix Hoffmann, Shibu Antony, Sylvia Bolz, Mohamed Ali Jarboui, Katrin Junger, Franziska Klose, Isabel F. Stehle, Karsten Boldt, Marius Ueffing, Tina Beyer
Published in: MCP, Issue 100701, 2023, ISSN 1535-9476
Publisher: American Society for Biochemistry and Molecular Biology Inc.
DOI: 10.1016/j.mcpro.2023.100701

KIF13B controls ciliary protein content by promoting endocytic retrieval and suppressing release of large extracellular vesicles from cilia

Author(s): Csenge K. Rezi, Alina Frei, Fabiola Campestre, Karsten Boldt, Benjamin Mary, Anna Maria Fixdahl, Anna-Louise With Petersen, Aurelien Sicot, Christina R. Berggreen, Julie Laplace, Søren L. Johansen, Julie K.T. Sørensen, Mohamed Chamlali, Martin W. Berchtold, Søren T. Christensen, Zeinab Anvarian, Helen L. May-Simera, Lotte B. Pedersen
Published in: Current Biology, Issue 35, 2025, Page(s) 4651-4667.e9, ISSN 0960-9822
Publisher: Cell Press
DOI: 10.1016/j.cub.2025.08.022

Optineurin Shapes Basal and LPS-Induced Transcriptomes in BV2 Microglia

Author(s): Sara Cappelli, Josip Peradinovic, Nikolina Mohovic, Purba Mandal, Cristiana Stuani, Alessandra Longo, Jason R. Cannon, Priyanka Baloni, Benedetta Leoni, Tamara Krsmanovic, Katica Stojanov, Gordana Apic, Robert B. Russell, Maurizio Romano, Emanuele Buratti, Ivana Munitic
Published in: International Journal of Molecular Sciences, Issue 26, 2025, Page(s) 10453, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms262110453

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients

Author(s): Daniel A. Baird, Hira Mubeen, Canan Doganli, Jasmijn B. Miltenburg, Oskar Kaaber Thomsen, Zafar Ali, Tahir Naveed, Asif ur Rehman, Shahid Mahmood Baig, Søren Tvorup Christensen, Muhammad Farooq, Lars Allan Larsen
Published in: Human Genetics, Issue volume 143, 2024, Page(s) 1323-1339, ISSN 0340-6717
Publisher: Springer Verlag
DOI: 10.1007/s00439-024-02703-z

The EH Binding protein EHBP1 operates in a ciliary functional module affected by INPP5E dysfunction

Author(s): Kae R. Whiting, Mariam Aslanyan, Imke Peters, Stef Letteboer, Mohamed-Ali Jarboui, Tina Beyer, Katrin Dahlke, Karsten Boldt, Ronald Roepman
Published in: Journal of Cell Science, Issue 2026 March 10, 2026, ISSN 0021-9533
Publisher: The Company of Biologists Ltd.
DOI: 10.1242/jcs.264091

DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2

Author(s): Csenge K Rezi, Mariam G Aslanyan, Gaurav D Diwan, Tao Cheng, Mohamed Chamlali, Katrin Junger, Zeinab Anvarian, Esben Lorentzen, Kleo B Pauly, Yasmin Afshar-Bahadori, Eduardo F A Fernandes, Feng Qian, Sébastien Tosi, Søren T Christensen, Stine F Pedersen, Kristian Strømgaard, Robert B Russell, Jeffrey H Miner, Moe R Mahjoub, Karsten Boldt, Ronald Roepman, Lotte B Pedersen
Published in: EMBO reports, Issue 7 June 2024, 2024, ISSN 1469-221X
Publisher: Nature Publishing Group
DOI: 10.1038/s44319-024-00170-1

ZebraReg—a novel platform for discovering regulators of cardiac regeneration using zebrafish

Author(s): Kateřina Apolínová, Ferran Arqué Pérez, Sylvia Dyballa, Benedetta Coppe, Nadia Mercader Huber, Javier Terriente, Vincenzo Di Donato
Published in: Frontiers in Cell and Developmental Biology, Issue 12, 2024, ISSN 2296-634X
Publisher: Frontiers Media S.A.
DOI: 10.3389/fcell.2024.1384423

Other (2)

CAKUT variants in <i>PRPF8, DYRK2</i> , and <i>CEP78</i> : implications for splicing and ciliogenesis

Author(s): Lea M Merz, Shirlee Shril, Tucker J. Carrocci, Csenge K. Rezi, Natalie J. Zeps, Rafael Jiménez-Izquierdo, Florian Bergmann, Narcis Adrian Petriman, Caroline M Kolvenbach, Nils D Mertens, Søren L. Johansen, Jan Halbritter, Alina Christine Hilger, Shaikh Qureshi Wasay Mohiuddin, Kathryn E Hentges, Hila Milo Rasouly, Ali G Gharavi, Kiyotsugu Yoshida, Esben Lorentzen, Marco Calzado, Andreas Kispert,
Published in: bioRxiv, 2026
Publisher: Cold Spring Harbor
DOI: 10.1101/2025.07.16.665151

Evaluation of Prostaglandin Receptor Agonists and Eupatilin in the Context of Nephronophthisis

Author(s): Alice Tata, Guillaume Rocha, Marguerite Hureaux, Alice Serafin, Esther Porée, Lucie Menguy, Nicolas Goudin, Nicolas Cagnard, Lilian Gréau, Marc Fila, Luis Briseno-Roa, Jean-Philippe Annereau, Sophie Saunier, Alexandre Benmerah
Published in: BiorXiv, 2025
Publisher: Cold Spring Harbor Laboratory
DOI: 10.1101/2025.01.15.633139

Intellectual Property Rights

Patent (1)

USE OF INHIBITORS OF THE HIPPO SIGNALLING PATHWAY FOR THE TREATMENT OF CHRONIC NEPHROPATHIES

Application/Publication number: 20 23077250
Date: 2023-10-02
Applicant(s): IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES FONDATION