Molecular Principles of Mammalian Axonemal Dynein Assembly

Project Information

CiliaCircuits

Grant agreement ID: 866355

DOI

10.3030/866355

EC signature date 20 March 2020

Start date 1 August 2020

End date 31 January 2026

Funded under

• EXCELLENT SCIENCE - European Research Council (ERC)

Total cost

€ 1 965 459,94

EU contribution

€ 1 965 459,94

Coordinated by

THE UNIVERSITY OF EDINBURGH
United Kingdom

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 .

Publications

Peer reviewed articles (14)

Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis

Author(s): Emma A. Hall; Dhivya Kumar; Suzanna L. Prosser; Patricia L. Yeyati; Vicente Herranz Pérez; Jose Manuel García Verdugo; Lorraine Rose; Lisa McKie; Daniel O. Dodd; Peter A. Tennant; Roly Megaw; Laura C. Murphy; Marissa Ferreira; Graeme Grimes; Lucy Williams; Tooba Quidwai; Laurence Pelletier; Jeremy F. Reiter; Pleasantine Mill
Published in: eLife, 2023, ISSN 2050-084X
Publisher: eLife Sciences Publications
DOI: 10.7554/elife.79299

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders

Author(s): Fay Newton, Mihail Halachev, Linda Nguyen, Lisa McKie, Pleasantine Mill, Roly Megaw
Published in: Nature Communications, Issue 16, 2025, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-025-59165-8

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Author(s): Daniel O. Dodd, Sabrina Mechaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh K. Gupta, Thomas Attard, Maimoona A. Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R. Fassad, David A. Parry, Peter A. Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A. Black, Rana Mitri-Frangieh, Catherine Faucon, Joss
Published in: Science, Issue 384, 2024, ISSN 0036-8075
Publisher: American Association for the Advancement of Science
DOI: 10.1126/science.adf5489

A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia.

Author(s): Tooba Quidwai; Jiaolong Wang; Emma Hall; Narcis Adrian Petriman; Weihua Leng; Petra Kiesel; Jonathan N. Wells; Laura C. Murphy; Margaret A. Keighren; Joseph A. Marsh; Esben Lorentzen; Gaia Pigino; Pleasantine Mill
Published in: eLife, Issue 2, 2021, ISSN 2050-084X
Publisher: eLife Sciences Publications
DOI: 10.7554/elife.69786

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

Author(s): Holly A. Black, Sophie Marion de Proce, Jose L. Campos, Alison Meynert, Mihail Halachev, Joseph A. Marsh, Robert A. Hirst, Chris O'Callaghan, Amelia Shoemark, Daniel Toddie‐Moore, null null, Javier Santoyo‐Lopez, Jennie Murray, Kenneth Macleod, Don S. Urquhart, Stefan Unger, Timothy J. Aitman, Pleasantine Mill
Published in: Pediatric Pulmonology, Issue 59, 2025, Page(s) 3322-3332, ISSN 8755-6863
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ppul.27200

Primary cilia as dynamic and diverse signalling hubs in development and disease

Author(s): Pleasantine Mill , Søren T Christensen, Lotte B Pedersen
Published in: Nature Reviews Genetics, 2023, ISSN 1471-0056
Publisher: Nature Publishing Group
DOI: 10.1038/s41576-023-00587-9

Nucleo-cytoplasmic shuttling of splicing factor SRSF1 is required for development and cilia function

Author(s): Fiona Haward; Magdalena M. Maslon; Patricia L. Yeyati; Nicolás Bellora; Jan N. Hansen; Stuart Aitken; Jennifer Lawson; Alex von Kriegsheim; Dagmar Wachten; Pleasantine Mill; Ian R. Adams; Javier F. Cáceres
Published in: eLife, 2021, ISSN 2050-084X
Publisher: eLife Sciences Publications
DOI: 10.1101/2020.09.04.263251

Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping

Author(s): Deborah J. Henderson, Ahlam Alqahtani, Bill Chaudhry, Andrew Cook, Lorraine Eley, Lucile Houyel, Marina Hughes, Bernard Keavney, José Luis de la Pompa, John Sled, Nadine Spielmann, Lydia Teboul, Stephane Zaffran, Pleasantine Mill, Karen J. Liu
Published in: Disease Models & Mechanisms, Issue 17, 2024, ISSN 1754-8403
Publisher: The Company of Biologists Ltd.
DOI: 10.1242/dmm.050913

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes

Author(s): Horani A, Gupta DK, Xu J, Xu H, Carmen Puga-Molina LD, Santi CM, Ramagiri S, Brennan SK, Pan J, Koenitzer JR, Huang T, Hyland RM, Gunsten SP, Tzeng SC, Strahle JM, Mill P, Mahjoub MR, Dutcher SK, Brody S
Published in: JCI Insights, 2023, Page(s) e168836, ISSN 2379-3708
Publisher: American Society for Clinical Investigation
DOI: 10.1172/jci.insight.168836

Primary cilia loss promotes reactivation of morphogenesis and cyst-fission through a deregulated TGF<i>β</i>-ECM-Integrin axis in polycystic liver disease

Author(s): Scott H Waddell; Yuelin Yao; Paula Olaizola; Edward J Jarman; Kostas Gournopanos; Ersi Christodoulou; Philippe Gautier; Joost PH Drenth; Timothy J Kendall; Jesus M Banales; Ava Khamseh; Pleasantine Mill; Luke Boulter
Published in: Science Translational Medicine, Issue 1, 2023, ISSN 1946-6234
Publisher: American Association for the Advancement of Science
DOI: 10.1126/scitranslmed.abq5930

Ciliary tip actin dynamics regulate photoreceptor outer segment integrity

Author(s): Roly Megaw, Abigail Moye, Zhixian Zhang, Fay Newton, Fraser McPhie, Laura C. Murphy, Lisa McKie, Feng He, Melissa K. Jungnickel, Alex von Kriegsheim, Peter A. Tennant, Chloe Brotherton, Christine Gurniak, Alecia K. Gross, Laura M. Machesky, Theodore G. Wensel, Pleasantine Mill
Published in: Nature Communications, Issue 15, 2024, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-024-48639-w

Not all are the same: the power of registries in defining genotype–phenotype relationships in primary ciliary dyskinesia

Author(s): Amjad Horani, Pleasantine Mill
Published in: European Respiratory Journal, Issue 64, 2025, Page(s) 2401026, ISSN 0903-1936
Publisher: European Respiratory Society
DOI: 10.1183/13993003.01026-2024

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies

Author(s): Stephen R. F. Twigg, Nicholas D. E. Greene, Deborah J. Henderson, Pleasantine Mill, Karen J. Liu
Published in: Mammalian Genome, Issue 36, 2025, Page(s) 354-362, ISSN 0938-8990
Publisher: Springer Verlag
DOI: 10.1007/s00335-025-10114-2

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies

Author(s): Stephen R. F. Twigg, Nicholas D. E. Greene, Deborah J. Henderson, Pleasantine Mill, Karen J. Liu
Published in: Mammalian Genome, 2025, ISSN 0938-8990
Publisher: Springer Verlag
DOI: 10.1007/s00335-025-10114-2

Other (1)

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Author(s): Sabrina Mechaussier, Daniel O Dodd, Patricia L Yeyati, Fraser McPhie, Thomas Attard, Amelia Shoemark, Deepesh K Gupta, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Jacob R Anderson, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Pat
Published in: medRXiv, 2022, ISSN 2692-8205
Publisher: Cold Spring Harbor Laboratory
DOI: 10.1101/2022.10.19.22280748

Book chapters (1)

Live Imaging and Analysis of Cilia and Cell Cycle Dynamics with the Arl13bCerulean-Fucci2a Biosensor and Fucci Tools

Author(s): Melinda Van Kerckvoorde, Matthew J. Ford, Patricia L. Yeyati, Pleasantine Mill, Richard L. Mort
Published in: Methods in Molecular Biology, Cell Cycle Oscillators, 2022, Page(s) 291-309
Publisher: Springer US
DOI: 10.1007/978-1-0716-1538-6_21

Non-peer reviewed articles (1)

The cilia mechanosensation debate gets (bio)physical

Author(s): Dagmar Wachten, Pleasantine Mill
Published in: Nature Reviews Nephrology, 2023, ISSN 1759-5061
Publisher: Nature Publishing Group
DOI: 10.1038/s41581-023-00701-4