Molecular Principles of Mammalian Axonemal Dynein Assembly

Información del proyecto

CiliaCircuits

Identificador del acuerdo de subvención: 866355

DOI

10.3030/866355

Fecha de la firma de la CE 20 Marzo 2020

Fecha de inicio 1 Agosto 2020

Fecha de finalización 31 Enero 2026

Financiado con arreglo a

• EXCELLENT SCIENCE - European Research Council (ERC)

Coste total

€ 1 965 459,94

Aportación de la UE

€ 1 965 459,94

Coordinado por

THE UNIVERSITY OF EDINBURGH
United Kingdom

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Publicaciones

Peer reviewed articles (14)

Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis

Autores: 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
Publicado en: eLife, 2023, ISSN 2050-084X
Editor: eLife Sciences Publications
DOI: 10.7554/elife.79299

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

Autores: Fay Newton, Mihail Halachev, Linda Nguyen, Lisa McKie, Pleasantine Mill, Roly Megaw
Publicado en: Nature Communications, Edición 16, 2025, ISSN 2041-1723
Editor: Nature Publishing Group
DOI: 10.1038/s41467-025-59165-8

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

Autores: 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
Publicado en: Science, Edición 384, 2024, ISSN 0036-8075
Editor: 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.

Autores: 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
Publicado en: eLife, Edición 2, 2021, ISSN 2050-084X
Editor: eLife Sciences Publications
DOI: 10.7554/elife.69786

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

Autores: 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
Publicado en: Pediatric Pulmonology, Edición 59, 2025, Página(s) 3322-3332, ISSN 8755-6863
Editor: John Wiley & Sons Inc.
DOI: 10.1002/ppul.27200

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

Autores: Pleasantine Mill , Søren T Christensen, Lotte B Pedersen
Publicado en: Nature Reviews Genetics, 2023, ISSN 1471-0056
Editor: Nature Publishing Group
DOI: 10.1038/s41576-023-00587-9

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

Autores: 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
Publicado en: eLife, 2021, ISSN 2050-084X
Editor: eLife Sciences Publications
DOI: 10.1101/2020.09.04.263251

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

Autores: 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
Publicado en: Disease Models & Mechanisms, Edición 17, 2024, ISSN 1754-8403
Editor: The Company of Biologists Ltd.
DOI: 10.1242/dmm.050913

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes

Autores: 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
Publicado en: JCI Insights, 2023, Página(s) e168836, ISSN 2379-3708
Editor: 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

Autores: 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
Publicado en: Science Translational Medicine, Edición 1, 2023, ISSN 1946-6234
Editor: American Association for the Advancement of Science
DOI: 10.1126/scitranslmed.abq5930

Ciliary tip actin dynamics regulate photoreceptor outer segment integrity

Autores: 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
Publicado en: Nature Communications, Edición 15, 2024, ISSN 2041-1723
Editor: 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

Autores: Amjad Horani, Pleasantine Mill
Publicado en: European Respiratory Journal, Edición 64, 2025, Página(s) 2401026, ISSN 0903-1936
Editor: European Respiratory Society
DOI: 10.1183/13993003.01026-2024

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

Autores: Stephen R. F. Twigg, Nicholas D. E. Greene, Deborah J. Henderson, Pleasantine Mill, Karen J. Liu
Publicado en: Mammalian Genome, Edición 36, 2025, Página(s) 354-362, ISSN 0938-8990
Editor: Springer Verlag
DOI: 10.1007/s00335-025-10114-2

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

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

Other (1)

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Autores: 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
Publicado en: medRXiv, 2022, ISSN 2692-8205
Editor: 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

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

Non-peer reviewed articles (1)

The cilia mechanosensation debate gets (bio)physical

Autores: Dagmar Wachten, Pleasantine Mill
Publicado en: Nature Reviews Nephrology, 2023, ISSN 1759-5061
Editor: Nature Publishing Group
DOI: 10.1038/s41581-023-00701-4