Cellular Homeostasis ANd AGing in Connective TissuE Disorders

Informazioni relative al progetto

CHANGE

ID dell’accordo di sovvenzione: 101072766

DOI

10.3030/101072766

Progetto chiuso

Data della firma CE 11 Luglio 2022

Data di avvio 1 Settembre 2022

Data di completamento 31 Agosto 2026

Finanziato da

• Marie Skłodowska-Curie Actions (MSCA)

Costo totale

Nessun dato

Contributo UE

€ 2 692 173,60

Coordinato da

UNIVERSITA DEGLI STUDI DI PAVIA
Italy

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

Websites, patent fillings, videos etc. (3)

Annual newsletters

Annual newsletters detailing the activities and achievements of the consortium will be published on the consortium website, sent via email to all stakeholders and promoted via the consortium's social media channels.

Educational materials

Delivery of remote (online) learning, distance education, and the use of educational technologies to enhance students learning experiences while reducing the overall carbon print of theconsortium. Participants will share online training materials (e.g. educational videos, lecture notes and slides). Webinars and massive open online courses(MOOCs) will also be organised on subjects relevant to the participants expertise, within the context of the CHANGE research activities.

Project’s website

Project website will feature information and educational material co-edited by the ESRs and relating to the projects research areas as well as regular news and soundbites about the projects achievements and discoveries.

Pubblicazioni

Conference proceedings (18)

CONTRIBUTION OF NOREPINEPHRINE AND THE AGEING AUTONOMIC NERVOUS SYSTEM TO SPINE DEGENERATION

Autori: Matteo Signor, Carsten Graumann, Gundula Rösch, Panagiotis Diaremes, Giulio Gatto, Frank Zaucke, Zsuzsa Jenei-Lanzl
Pubblicato in: 2024
Editore: N/A

Morphological and biochemical analysis of musculoskeletal pathology in a murine model of diastrophic dysplasia

Autori: Asifa Khan, Alessandra Leone, Matteo Signor, Giulio Gatto, Michal Tamáš, Zsuzsa Jenei-Lanzl, Nitin George Eapen, Paolo Bonaldo, Marcus Krüger, Frank Zaucke, Antonella Forlino, Antonio Rossi
Pubblicato in: ARI Orthopaedics 2026 - Cartilage & Disc, Congress Center, Davos, Switzerland, 2026
Editore: RI Orthopaedics 2026 - Cartilage & Disc, Congress Center, Davos, Switzerland

Morphological and biochemical analysis of musculoskeletal pathology in a murine model of diastrophic dysplasia

Autori: Asifa Khan, Alessandra Leone, Matteo Signor, Giulio Gatto, Michal Tamáš, Zsuzsa Jenei-Lanzl, Nitin George Eapen, Paolo Bonaldo, Marcus Krüger, Frank Zaucke, Antonella Forlino, Antonio Rossi
Pubblicato in: Annual Meeting of the German Society for Matrix Biology, Heidelberg, Germany, 2026
Editore: Annual Meeting of the German Society for Matrix Biology, Heidelberg, Germany

CHANGE: Cellular Homeostasis ANd AGing in Connective TissuE Disorders

Autori: Giulio Gatto, Matteo Signor, Wendy Perez Franco, Asifa Khan, Zsuzsa Jenei-Lanzl, Frank Zaucke, Antonio Rossi, Antonella Forlino
Pubblicato in: 2023
Editore: none

Investigating the role of misfolded collagen I in skeletal and cardiorespiratory aging

Autori: Pérez-Franco, W., Besio R., Filibian M., Gioia R., Grillari G., Ogrodnik M., Schädl B., Jagersberger T., Löscher A., Forlino, A.
Pubblicato in: 2026
Editore: matrixbiologie

Unrevealing the multi-organ consequence of osteogenesis imperfecta in aging

Autori: Wendy Perez Franco,Roberta Besio, Antonella Forlino
Pubblicato in: 2024
Editore: MBE24

Insights in the musculoskeletal phenotype of an animal model of diastrophic dysplasia

Autori: Asifa Khan, Alessandra Leone, Frank Zaucke, Zsuzsa Jenei-Lanzl, Michal Tamáš, Paolo Bonaldo, Chantal Fayad, Matteo Signor, Giulio Gatto, Laurence Legai-Mallet
Pubblicato in: A Castellani meeting of PhD students in Biochemical Science, Brallo di Pregola, Italy, 2025

Pro143Leu KIF22 mutation affect cartilage structure in the SEMDJL2 mice

Autori: Roufaida Bouchenafa; Elias Ben-Tiba; Francesca de Sousa Brito; Katarzyna Anna Pirog
Pubblicato in: International Journal of Experimental Pathology, 2024
Editore: Wiley

Insights in the adult skeletal phenotype of an animal model of diastrophic dysplasia

Autori: Asifa Khan, Alessandra Leone, Chiara Gramegna Tota, Chiara Paganini, Ottavia Ferraro, Simona Villani, Antonella Forlino, Eric Hay, Martine Cohen-Solal, Antonio Rossi
Pubblicato in: 2024
Editore: Matrix Biology Europe 2024

p.Pro148Leu KIF22 mutation affects bone structure and properties in a knock-in mouse model of SEMDJL2

Autori: Roufaida Bouchenafa, Francesca de Sousa Brito, Roberta Gioia, Antonella Forlino, Katarzyna Anna Pirog
Pubblicato in: Journal of Histochemistry & Cytochemistry, 2026
Editore: Sage
DOI: 10.1369/00221554261448876

Pro143Leu KIF22 mutation affect cartilage structure in the SEMDJL2 mice.

Autori: Bouchenafa R, Ben-Tiba E, Johnson de Sousa Brito FM, Pirog KA.
Pubblicato in: Int J Exp Path, 2024
Editore: Wiley
DOI: 10.1111/IEP.12512

Structural and biochemical signatures of musculoskeletal tissues in a murine model of diastrophic dysplasia

Autori: Asifa Khan, Alessandra Leone, Frank Zaucke, Zsuzsa Jenei-Lanzl, Michal Tamáš, Paolo Bonaldo, Matteo Signor, Giulio Gatto, Antonella Forlino, Antonio Rossi
Pubblicato in: 7th MuSkITYR Symposium, Dresden, Germany, 2025
Editore: 7th MuSkITYR Symposium, Dresden, Germany

668 - TOWARDS AN EX VIVO CARTILAGE DAMAGE MODEL TO STUDY CARTILAGE DAMAGE PROGRESSION AND REPAIR

Autori: João M. Pinheiro, Keita Ito, Gerjo J. van Osch, Linda Kock
Pubblicato in: Numero Volume 33, Supplement, Page S461, 2025, ISSN 1053-4584
Editore: Osteoarthritis and Cartilage
DOI: 10.1016/J.JOCA.2025.02.676

Involvement of kinesins in skeletal dysplasia: a review

Autori: Roufaida Bouchenafa; Francesca Manuela Johnson de Sousa Brito; Katarzyna Anna Piróg
Pubblicato in: Crossref, 2024
Editore: APS (Americal Physiological Society)
DOI: 10.1152/AJPCELL.00613.2023

Spinal Kyphosis and Intervertebral Disc Degeneration in a mouse model of Diastrophic Dysplasia

Autori: Asifa Khan, Alessandra Leone, Chiara Paganini, Matteo Signor, Giulio Gatto, Zsuzsa Jenei-Lanzl, Nitin George Eapen, Marcus Krüger, Frank Zaucke, Antonella Forlino, Antonio Rossi
Pubblicato in: 2026

CONTRIBUTION OF NOREPINEPHRINE AND THE AGEING AUTONOMIC NERVOUS SYSTEM TO SPINE DEGENERATION

Autori: Matteo Signor, Carsten Graumann, Gundula Rösch, Panagiotis Diaremes, Giulio Gatto, Frank Zaucke, Zsuzsa Jenei-Lanzl
Pubblicato in: 2024
Editore: none

Unrevealing the multi-organ consequence of osteogenesis imperfecta in aging

Autori: Wendy Perez Franco,Roberta Besio, Antonella Forlino
Pubblicato in: 2025
Editore: UNIPV

Morphological and biochemical changes in the musculoskeletal phenotype of an animal model of diastrophic dysplasia

Autori: Asifa Khan, Alessandra Leone, Frank Zaucke, Zsuzsa Jenei-Lanzl, Michal Tamáš, Paolo Bonaldo, Matteo Signor, Giulio Gatto, Antonella Forlino, Antonio Rossi
Pubblicato in: Italian Society for the Study of Connective Tissue / Matrix Biology Italy (SISC/MBIta) congress, Messeina, Italy, 2025

Peer reviewed articles (10)

Role of Collection Media on the Biological Activity of Extracellular Vesicles From hTERT‐Immortalised Mesenchymal Stromal Cells

Autori: Alessia Brancolini, Madhusudhan Reddy Bobbili, Matthias Wieser, Johanna Gamauf, Marieke Theodora Roefs, Elsa Arcalis, Silke Aldrian, Sebastien Couillard‐Despres, Lara Bieler, Johannes Grillari, Regina Grillari‐Voglauer
Pubblicato in: Journal of Extracellular Vesicles, Numero 15, 2026, ISSN 2001-3078
Editore: Wiley
DOI: 10.1002/JEV2.70298

Immortalization of mesenchymal stromal cells by hTERT does not affect the functional properties of secreted extracellular vesicles

Autori: Alessia Brancolini, Madhusudhan Reddy Bobbili, Marianne Pultar, Zahra Mazidi, Matthias Wieser, Johanna Gamauf, Marieke Theodora Roefs, Giulia Corso, Harini Nivarthi, Maria Belen Arteaga Paredes, Dieter Bettelheim, Elsa Arcalis, Sivun Dmitry, Jaroslaw Jacak, Iris Gerner, Andrea Bileck, Christoper Gerner, Matthias Hackl, Johannes Grillari, Regina Grillari-Voglauer
Pubblicato in: Journal of Biotechnology, Numero 414, 2026, ISSN 0168-1656
Editore: Elsevier BV
DOI: 10.1016/J.JBIOTEC.2026.03.010

Exploring the brain in osteogenesis imperfecta: insights from the motor cortex and striatum of the Brtl+/− murine model

Autori: Emma Lugli, Roberta Besio, Margherita Cavallo, Ludovica Gaiaschi, Wendy Pérez Franco, Gloria Milanesi, Antonella Forlino, Maria Grazia Bottone, Fabrizio De Luca
Pubblicato in: Acta Neuropathologica Communications, 2026, ISSN 2051-5960
Editore: Springer Science and Business Media LLC
DOI: 10.1186/S40478-026-02393-W

Multi-parametric profiling of plasma-derived extracellular vesicles reveals a disease-associated molecular signature supporting a liquid biopsy approach in myelofibrosis

Autori: Ghazal Narimanfar, Husam B. R. Alabed, Alessia Brancolini, Roberto Maria Pellegrino, Martina Barone, Claudia Venturi, Hillary Catellani, Giovanni Torsello, Luca Pestarino, Andrea Cavalli, Alessandra D’Addio, Alessia Tieghi, Regina Grillari-Voglauer, Francesca Palandri, Lucia Catani
Pubblicato in: Molecular Medicine, Numero 32, 2026, ISSN 1528-3658
Editore: Springer Science and Business Media LLC
DOI: 10.1186/S10020-026-01477-6

A zebrafish model of Bethlem myopathy reveals CaV1.1 as the missing link between collagen type VI deficiency and muscle dysfunction

Autori: Romane Idoux, Chloé Exbrayat-Heritier, Adrien Ducret, Shivashakthi Shivaraman, Marilyne Malbouyres, Francisco Jaque-Fernandez, Christine Berthier, Frédéric Sohm, Vincent Jacquemond, Sandrine Bretaud, Florence Ruggiero, Bruno Allard
Pubblicato in: 2026
Editore: openRxiv
DOI: 10.1101/2025.06.02.657388

Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease

Autori: Silvia Cotti, Wendy Pérez Franco, Antonella Forlino
Pubblicato in: Clinical Science, Numero 139, 2025, ISSN 0143-5221
Editore: Portland Press Ltd.
DOI: 10.1042/CS20255642

Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage

Autori: Sarah McNeilly, Cameron R. Thomson, Laura Gonzalez-Trueba, Yuan Yan Sin, Alessandra Granata, Graham Hamilton, Michelle Lee, Erin Boland, John D. McClure, Cristina Lumbreras-Perales, Alisha Aman, Apoorva A. Kumar, Marco Cantini, Caglar Gök, Delyth Graham, Yasuko Tomono, Christopher D. Anderson, Yinhui Lu, Colin Smith, Hugh S. Markus, Marc Abramowicz, Catheline Vilain, Rustam Al-Shahi Salman, Manuel Salmeron-Sanchez, Atticus H. Hainsworth, William Fuller, Karl E. Kadler, Neil J. Bulleid, Tom Van Agtmael
Pubblicato in: eBioMedicine, Numero 107, 2024, ISSN 2352-3964
Editore: Elsevier BV
DOI: 10.1016/j.ebiom.2024.105315

Rapid extracellular vesicle surface decoration with targeting moieties based on a fluorescein binding single chain variable fragment snorkel

Autori: Marieke Theodora Roefs, Johanna Gamauf, Barbara Kroenigsberger, Alessia Brancolini, Michael W. Traxlmayr, Elsa Arcalis, Jaroslaw Jacak, Marcelle van Mechelen, Jean-Paul Prieels, Regina Grillari-Voglauer, Johannes Grillari, Madhusudhan Reddy Bobbili
Pubblicato in: Journal of Controlled Release, Numero 390, 2026, ISSN 0168-3659
Editore: Elsevier BV
DOI: 10.1016/J.JCONREL.2025.114558

TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-driven models of chondrodysplasia

Autori: Jacqueline H. Starrett, Clara Lemoine, Matthias Guillo, Chantal Fayad, Nabil Kaci, Melissa Neal, Emily A. Pettitt, Melissandre Pache, Qing Ye, My Chouinard, Eric L. Allen, Geneviève Baujat, Robert L. Hudkins, Michael B. Bober, Todd Harris, Ronald V. Swanson, Laurence Legeai-Mallet
Pubblicato in: JCI Insight, Numero 10, 2025, ISSN 2379-3708
Editore: American Society for Clinical Investigation
DOI: 10.1172/JCI.INSIGHT.189307

Osteogenesis Imperfecta: A Look into the Cerebellum of the Brtl Murine Model

Autori: Fabrizio De Luca, Roberta Besio, Emma Lugli, Enrico Pelloni, Claudio Casali, Wendy Pérez Franco, Ludovica Gaiaschi, Federica Gola, Margherita Cavallo, Gloria Milanesi, Antonella Forlino, Maria Grazia Bottone
Pubblicato in: Molecular Neurobiology, Numero 62, 2025, ISSN 0893-7648
Editore: Springer Science and Business Media LLC
DOI: 10.1007/S12035-025-05205-9

Thesis and dissertations (3)

Extracellular Matrix–Driven Dysregulation of Skeletal Muscle Homeostasis in Collagen VI Deficiency Across Ageing

Autori: Michal Tamáš
Pubblicato in: 2026
Editore: PhD thesis, PhD Course in Biosciences, Curriculum Cell Biology and Physiology, Series XXXVIII

Dissecting the multi-organ consequences to misfolded collagen I in aging

Autori: Pérez-Franco, W., Besio R., Forlino, A.
Pubblicato in: 2026
Editore: ThesisDC1

MECHANICALLY INDUCED DEGENERATION IN OSTEOCHONDRAL EXPLANTS: AN EX VIVO PLATFORM FOR STUDYING OSTEOARTHRITIS

Autori: João Pinheiro
Pubblicato in: 2026
Editore: University of Pavia Repository

Book chapters (5)

Skeletal Dysplasias Caused by Defects in Glycosaminoglycan Sulfation.

Autori: Gramegna Tota, C., Leone, A., Paganini, C., Khan, A., Rossi, A., Superti-Furga, A.
Pubblicato in: Springer, 2024
Editore: The Extracellular Matrix in Genetic Skeletal Disorders

FGF Signaling: A Key Pathway During Skeletal Development

Autori: Chantal Fayad, Laurence Legeai-Mallet
Pubblicato in: Springer Cham, 2024
Editore: The Extracellular Matrix in Genetic Skeletal Disorders
DOI: 10.1007/978-3-031-70835-0_8

FGF Signaling: A Key Pathway During Skeletal Development

Autori: Chantal Fayad, Laurence Legeai-Mallet
Pubblicato in: Springer Nature, 2024
Editore: Springer

Osteogenesis imperfecta and related diseases – collagen I alterations in skeletal and extraskeletal tissues

Autori: Giulio Gatto, WendyPérez Franco, Heike-Katharina Hoyer-Kuhn, Oliver Semle, Antonella Forlino, Roberta Besio
Editore: Springer Nature

Skeletal Dysplasias Caused by Defects in Glycosaminoglycan Sulfation

Autori: Chiara Gramegna Tota, Alessandra Leone, Chiara Paganini, Asifa Khan, Antonio Rossi, Andrea Superti-Furga
Pubblicato in: Biology of Extracellular Matrix, The Extracellular Matrix in Genetic Skeletal Disorders, 2024
Editore: Springer Nature Switzerland
DOI: 10.1007/978-3-031-70835-0_6

Other (3)

Mitochondrial dysfunction plays a key role in premature musculoskeletal aging in hypochondroplasia mouse model

Autori: Chantal Fayad, Michal Tamáš, Giulio Gatto, Dimitrije Milunov, Soham Saha, Paolo Bonaldo, Frank Zaucke and Laurence Legeai-Mallet, PhD
Pubblicato in: 2026
Editore: JBMR

Role of Fgf Signaling in Hypochondroplasia Mouse Model During Aging

Autori: Chantal Fayad, Camille Viaut, Michal Tamáš, Paolo Bonaldo and Laurence Legeai-Mallet, PhD
Pubblicato in: 2025
Editore: JBMR

Defective Memory is restored and Epileptic seizures are rescued in a Mouse Model of Hypochondroplasia by the FGFR Inhibitor Infigratinib

Autori: Chantal Fayad, Lea Loisay, Charline Vilpreux, Stéphanie Moriceau, Franck Oury, Genevieve Baujat, Nathalie Boddaert, Laurence Legeai-Mallet
Pubblicato in: 2026
Editore: JBMR

Monographic books (1)

The Extracellular Matrix in Genetic Skeletal Disorders

Pubblicato in: Biology of Extracellular Matrix, 2024
Editore: Springer Nature Switzerland
DOI: 10.1007/978-3-031-70835-0