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Studying Ciliary Signaling in Development and Disease

Deliverables

Publications

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, 2022, 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

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

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

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

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