Therapies for Renal Ciliopathies

Informazioni relative al progetto

TheRaCil

ID dell’accordo di sovvenzione: 101080717

DOI

10.3030/101080717

Data della firma CE 4 Maggio 2023

Data di avvio 1 Luglio 2023

Data di completamento 30 Giugno 2027

Finanziato da

• Health

Costo totale

€ 7 425 446,80

Contributo UE

€ 7 425 446,80

Coordinato da

IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES FONDATION
France

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 .

Risultati finali

Data Management Plan (2)

Data Management Plan

Document describing the data management plan that will be produced and provided

Data Management Plan 2

We will revise the data management plan at month 18

Other (1)

PELSI Advisory Board

stakeholder's opinion reports and guidelines with clinical, EMA reports for ODD, PA and Biomarkers qualification.

Websites, patent fillings, videos etc. (1)

Project website

Public website dedicated to the TheRaCil project

Pubblicazioni

Peer reviewed articles (22)

Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies

Autori: Sara Clerici; Alessandra Boletta
Pubblicato in: EMBO Molecular Medicine, 2025, ISSN 1757-4684
Editore: Nature Publishing Group UK
DOI: 10.1038/S44321-025-00239-X

Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies

Autori: Mareike Dahmer-Heath, Joachim Gerß, Danilo Fliser, Max Christoph Liebau, Thimoteus Speer, Anna-Katharina Telgmann, Kathrin Burgmaier, Petra Pennekamp, Lars Pape, Franz Schaefer, Martin Konrad, Jens Christian König
Pubblicato in: Kidney International Reports, Numero 10, 2024, ISSN 2468-0249
Editore: Elsevier BV
DOI: 10.1016/J.EKIR.2024.09.023

The primary cilium at the helm: gatekeeper of TGF-β superfamily signaling in development, homeostasis, and disease

Autori: Cristian Herrera-Cid, Oskar Kaaber Thomsen, Linéa Désarbre, Rylee Blair Marin, Canan Doganli, Lotte Bang Pedersen, Lars Allan Larsen, Søren Tvorup Christensen
Pubblicato in: Biochemical Society Transactions, Numero 54, 2026, ISSN 0300-5127
Editore: Portland Press Ltd.
DOI: 10.1042/BST20253108

ALIX and ITCH localize to the base of primary cilia and negatively regulate ciliary Polycystin-2 levels

Autori: Christina Rahlff Berggreen, Julie Laplace, Fabiola Campestre, Anna-Louise With Petersen, Anna Maria Fixdahl, Benjamin Mary, Saba Ghazanfar, Geyi Li, Lotta Elisabeth Wagner, Csenge K. Rezi, Mohamed Chamlali, Zeinab Anvarian, Søren T. Christensen, Helen L. May-Simera, Lotte B. Pedersen
Pubblicato in: BMC Molecular and Cell Biology, Numero 27, 2026, ISSN 2661-8850
Editore: Springer Science and Business Media LLC
DOI: 10.1186/S12860-026-00571-1

Systematic review of outcomes reported in clinical research on nephronophthisis: how do they align with SONG Kids priorities?

Autori: Mareike Dahmer-Heath, Sven Optenhövel, Tanja Hechler, Martin Konrad, Jens König
Pubblicato in: Pediatric Nephrology, Numero 41, 2025, ISSN 0931-041X
Editore: Springer Science and Business Media LLC
DOI: 10.1007/S00467-025-06912-0

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis

Autori: 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, Sophie Saunier, Alexandre Benmerah
Pubblicato in: Kidney International Reports, 2025, ISSN 2468-0249
Editore: Elsevier BV
DOI: 10.1016/J.EKIR.2025.04.060

ZDHHC5 interacts physically and functionally with DLG1 at primary cilia and regulates ciliary length and kidney morphology

Autori: Csenge Kata Rezi, Canan Doganli, Mariam G. Aslanyan, Mohamed Chamlali, Benjamin Mary, Nina Lykke Callesen, Rokeah Rafat Kamel Abu-Khesha, Gaurav D. Diwan, Robert B. Russell, Esben Lorentzen, Karsten Boldt, Ronald Roepman, Lars Allan Larsen, Lotte B. Pedersen
Pubblicato in: Frontiers in Cell and Developmental Biology, Numero 14, 2026, ISSN 2296-634X
Editore: Frontiers Media SA
DOI: 10.3389/FCELL.2026.1805468

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies

Autori: Ellen M. Aarts, Diederik S. Laman Trip, Ruxandra Neatu, Charlotte G. Martin, Beth Riley, Alison Kraus, Abigail Green, Mohamed H. Al-Hamed, Rachel E. Armstrong, John A. Sayer, Ruxandra Bachmann-Gagescu, Pedro Beltrao
Pubblicato in: Genome Biology, Numero 27, 2026, ISSN 1474-760X
Editore: Springer Science and Business Media LLC
DOI: 10.1186/S13059-025-03899-7

A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two months

Autori: Kathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, Bahriye Atmis, Olivia Boyer, Anja Buescher, Ismail Dursun, Florian Erger, Marc Fila, Matthias Galiano, Ibrahim Gokce, Karsten Haeffner, Dieter Haffner, Nakysa Hooman, Guenter Klaus, Jens König, Bärbel Lange-Sperandio, Matko Marlais, Laura Massella, Djalila Mekahli, Monika Miklaszewska, Gordana Miloševski-Lomić, Lukasz Obrycki, Bruno Ranchin, Barbara Seitz, Stella Stabouli, Yilmaz Tabel, Katarzyna Taranta-Janusz, Lutz Thorsten Weber, Marcus Weitz, Elke Wühl, Alev Yilmaz, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau
Pubblicato in: Kidney International, 2025, ISSN 0085-2538
Editore: Elsevier BV
DOI: 10.1016/J.KINT.2025.01.023

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

Autori: 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
Pubblicato in: Current Biology, Numero 35, 2025, ISSN 0960-9822
Editore: Elsevier BV
DOI: 10.1016/J.CUB.2025.08.022

Polycystic Kidney Disease in Children: The Current Status and the Next Horizon

Autori: Melissa A. Cadnapaphornchai, Katherine M. Dell, Charlotte Gimpel, Lisa M. Guay-Woodford, Ashima Gulati, Erum A. Hartung, Max C. Liebau, Andrew J. Mallett, Matko Marlais, Djalila Mekahli, Alixandra Piccirilli, Tomas Seeman, Kristin Tindal, Paul J.D. Winyard
Pubblicato in: American Journal of Kidney Diseases, 2025, ISSN 0272-6386
Editore: Elsevier BV
DOI: 10.1053/J.AJKD.2025.01.022

Urinary peptide signature distinguishes autosomal recessive polycystic kidney disease from other causes of chronic kidney disease

Autori: Kathrin Burgmaier, Bénédicte Buffin-Meyer, Julie Klein, Brian Becknell, Daryl McLeod, Jan Boeckhaus, Oliver Gross, Claudia Dafinger, Justyna Siwy, Stéphane Decramer, Franz Schaefer, Max C Liebau, Joost P Schanstra
Pubblicato in: Clinical Kidney Journal, Numero 18, 2025, ISSN 2048-8505
Editore: Oxford University Press (OUP)
DOI: 10.1093/CKJ/SFAF093

Pathogenic PHIP Variants are Variably Associated With CAKUT

Autori: Jonathan de Fallois; Tobias Sieckmann; Ria Schönauer; Friederike Petzold; Johannes Münch; Melissa Pauly; Georgia Vasileiou; Christin Findeisen; Antje Kampmeier; Alma Kuechler; André Reis; Eva Decker; Carsten Bergmann; Konrad Platzer; Velibor Tasic; Karin Michaela Kirschner; Shirlee Shril; Friedhelm Hildebrandt; Wendy K. Chung; Jan Halbritter
Pubblicato in: Kidney International Reports, 2024, ISSN 2468-0249
Editore: Elsevier BV
DOI: 10.1016/J.EKIR.2024.05.024

Primary cilia signalling at a glance

Autori: Dagmar Wachten, Søren Tvorup Christensen
Pubblicato in: Journal of Cell Science, Numero 138, 2025, ISSN 0021-9533
Editore: The Company of Biologists
DOI: 10.1242/JCS.264187

Urinary renal epithelial cells can be used for <i>NPHP1</i> phenotyping and a personalized therapeutic strategy

Autori: Praveen Dhondurao Sudhindar, Eric Olinger, Zachary T. Sentell, Holly Mabillard, Barbora Dicka, Katrina Wood, Dominic Rutland, Catherine Collins, Marco Trevisan-Herraz, John A. Sayer, Juliana E. Arcila-Galvis
Pubblicato in: Journal of Cell Science, Numero 138, 2025, ISSN 0021-9533
Editore: The Company of Biologists
DOI: 10.1242/JCS.264141

Qualitative Analysis and Comparison of Externally Led Patient-Focused Drug Development Concepts for Autosomal Recessive Polycystic Kidney Disease Against SONG Initiatives

Autori: Belle Soyfer, Sorin Fedeles, Wendy Ruyle, Elise Hoover, Max C. Liebau, Erum A. Hartung, Katherine M. Dell, Lisa M. Guay-Woodford, Ronald D. Perrone, Dorothee Oberdhan
Pubblicato in: Kidney Medicine, Numero 7, 2025, ISSN 2590-0595
Editore: Elsevier BV
DOI: 10.1016/J.XKME.2025.101110

Artificial intelligence and perspective for rare genetic kidney diseases

Autori: Xiaoyi Chen, Anita Burgun, Olivia Boyer, Bertrand Knebelmann, Nicolas Garcelon
Pubblicato in: Kidney International, Numero 108, 2025, ISSN 0085-2538
Editore: Elsevier BV
DOI: 10.1016/J.KINT.2025.03.033

Ciliogenic pancreatopathy reveals a link between ciliopathies and exocrine pancreatic disease

Autori: Memoona Rajput, Lydie Flasse, Esther Porée, Océane Pointeau, Alice Serafin, Nicolas Papadopoulos, Younes Achouri, Joel Moro, Axelle Loriot, Michaela Wilsch-Brauninger, Valentine Gillion, Nathalie Godefroid, Charlotte Bodson, Leyre Lopez Muneta, Constance Depestel, Marie Morel, Sabine Cordi, Antonio Garcia de Herreros, Cecile Haumaitre, Frédéric Lemaigre, Meritxell Rovira, Amandine Viau, Anne Grapin-Botton, Sophie Saunier, Patrick Jacquemin, Isabelle Scheers
Pubblicato in: Gut, 2026, ISSN 0017-5749
Editore: BMJ
DOI: 10.1136/GUTJNL-2025-337224

The nephronophthisis protein <i>GLIS2</i> / <i>NPHP7</i> is required for the DNA damage response in kidney tubular epithelial cells

Autori: Lena K. Ebert, Lukas Schloesser, Laura E. Frech, Manaswita Jain, Claudia Dafinger, Max C. Liebau, Thomas Benzing, Bernhard Schermer, Gisela G. Slaats
Pubblicato in: American Journal of Physiology-Renal Physiology, Numero 329, 2025, ISSN 1931-857X
Editore: American Physiological Society
DOI: 10.1152/AJPRENAL.00076.2025

Advances in ciliary proteomics – towards cracking the hidden proteome code of cilia

Autori: Bernhard Schermer, Ronald Roepman, David U. Mick
Pubblicato in: Journal of Cell Science, Numero 138, 2025, ISSN 0021-9533
Editore: The Company of Biologists
DOI: 10.1242/JCS.264197

Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies

Autori: Ruxandra Bachmann-Gagescu, John A. Sayer
Pubblicato in: Journal of Cell Science, Numero 138, 2025, ISSN 0021-9533
Editore: The Company of Biologists
DOI: 10.1242/JCS.264177

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype

Autori: Laura R. Claus, Rozemarijn Snoek, Siebren Faber, Aurelius J.C. Roskothen-Shevchuk, Elena Sendino Garví, Edith D.J. Peters, Sanne M.C. Savelberg, Karen Duran, Bert van der Zwaag, Tri Q. Nguyen, Roel Broekhuizen, Walter J. Brummelhuis, Maarten Rookmaaker, Suzanne W. van der Veen, Martin G. Elferink, Alexandre Karras, Laure Raymond, Cyril Mousseaux, Omid Sadeghi-Alavijeh, John A. Sayer, Eric Olinger, Ruxandra Neatu, Verena Klämbt, Marijn F. Stokman, Nine V.A.M. Knoers, Federico Tessadori, Daniel P. Gale, Karsten Boldt, Marius Ueffing, Gisela G. Slaats, Ronald Roepman, Friedhelm Hildebrandt, Laurent Mesnard, Gijs van Haaften, Albertien M. van Eerde
Pubblicato in: Nephron, Numero 150, 2026, ISSN 1660-8151
Editore: S. Karger AG
DOI: 10.1159/000549598

Other (1)

Big lessons from small things – the JCS special issue on cilia and flagella

Autori: Pleasantine Mill, Lotte B. Pedersen
Pubblicato in: Journal of Cell Science, Numero 138, 2025, ISSN 0021-9533
Editore: The Company of Biologists
DOI: 10.1242/JCS.264477

Conference proceedings (1)

Comparing representations of long clinical texts for the task of patient note-identification

Autori: Safa Alsaidi, Marc Vincent, Olivia Boyer, Nicolas Garcelon, Miguel Couceiro, Adrien Coulet
Pubblicato in: CL4Health@NAACL 2025, 2025
Editore: HAL