Molecular Principles of Mammalian Axonemal Dynein Assembly

Informazioni relative al progetto

CiliaCircuits

ID dell’accordo di sovvenzione: 866355

DOI

10.3030/866355

Data della firma CE 20 Marzo 2020

Data di avvio 1 Agosto 2020

Data di completamento 31 Gennaio 2026

Finanziato da

• EXCELLENT SCIENCE - European Research Council (ERC)

Costo totale

€ 1 965 459,94

Contributo UE

€ 1 965 459,94

Coordinato da

THE UNIVERSITY OF EDINBURGH
United Kingdom

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Pubblicazioni

Peer reviewed articles (14)

Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis

Autori: 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
Pubblicato in: eLife, 2023, ISSN 2050-084X
Editore: eLife Sciences Publications
DOI: 10.7554/elife.79299

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

Autori: Fay Newton, Mihail Halachev, Linda Nguyen, Lisa McKie, Pleasantine Mill, Roly Megaw
Pubblicato in: Nature Communications, Numero 16, 2025, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-025-59165-8

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

Autori: 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
Pubblicato in: Science, Numero 384, 2024, ISSN 0036-8075
Editore: 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.

Autori: 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
Pubblicato in: eLife, Numero 2, 2021, ISSN 2050-084X
Editore: eLife Sciences Publications
DOI: 10.7554/elife.69786

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

Autori: 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
Pubblicato in: Pediatric Pulmonology, Numero 59, 2025, Pagina/e 3322-3332, ISSN 8755-6863
Editore: John Wiley & Sons Inc.
DOI: 10.1002/ppul.27200

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

Autori: Pleasantine Mill , Søren T Christensen, Lotte B Pedersen
Pubblicato in: Nature Reviews Genetics, 2023, ISSN 1471-0056
Editore: Nature Publishing Group
DOI: 10.1038/s41576-023-00587-9

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

Autori: 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
Pubblicato in: eLife, 2021, ISSN 2050-084X
Editore: eLife Sciences Publications
DOI: 10.1101/2020.09.04.263251

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

Autori: 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
Pubblicato in: Disease Models & Mechanisms, Numero 17, 2024, ISSN 1754-8403
Editore: The Company of Biologists Ltd.
DOI: 10.1242/dmm.050913

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes

Autori: 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
Pubblicato in: JCI Insights, 2023, Pagina/e e168836, ISSN 2379-3708
Editore: 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

Autori: 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
Pubblicato in: Science Translational Medicine, Numero 1, 2023, ISSN 1946-6234
Editore: American Association for the Advancement of Science
DOI: 10.1126/scitranslmed.abq5930

Ciliary tip actin dynamics regulate photoreceptor outer segment integrity

Autori: 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
Pubblicato in: Nature Communications, Numero 15, 2024, ISSN 2041-1723
Editore: 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

Autori: Amjad Horani, Pleasantine Mill
Pubblicato in: European Respiratory Journal, Numero 64, 2025, Pagina/e 2401026, ISSN 0903-1936
Editore: European Respiratory Society
DOI: 10.1183/13993003.01026-2024

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

Autori: Stephen R. F. Twigg, Nicholas D. E. Greene, Deborah J. Henderson, Pleasantine Mill, Karen J. Liu
Pubblicato in: Mammalian Genome, Numero 36, 2025, Pagina/e 354-362, ISSN 0938-8990
Editore: Springer Verlag
DOI: 10.1007/s00335-025-10114-2

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

Autori: Stephen R. F. Twigg, Nicholas D. E. Greene, Deborah J. Henderson, Pleasantine Mill, Karen J. Liu
Pubblicato in: Mammalian Genome, 2025, ISSN 0938-8990
Editore: Springer Verlag
DOI: 10.1007/s00335-025-10114-2

Other (1)

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Autori: 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
Pubblicato in: medRXiv, 2022, ISSN 2692-8205
Editore: 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

Autori: Melinda Van Kerckvoorde, Matthew J. Ford, Patricia L. Yeyati, Pleasantine Mill, Richard L. Mort
Pubblicato in: Methods in Molecular Biology, Cell Cycle Oscillators, 2022, Pagina/e 291-309
Editore: Springer US
DOI: 10.1007/978-1-0716-1538-6_21

Non-peer reviewed articles (1)

The cilia mechanosensation debate gets (bio)physical

Autori: Dagmar Wachten, Pleasantine Mill
Pubblicato in: Nature Reviews Nephrology, 2023, ISSN 1759-5061
Editore: Nature Publishing Group
DOI: 10.1038/s41581-023-00701-4