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Proceedings, 2025, COL4A1-A2

The 2nd COL4A1-A2 International Conference

Rome, Italy | 10 February 2025 

Volume Editors:
Enrico Silvio Bertini, IRCCS, Italy
Davide Vecchio, IRCCS, Italy

Number of Papers: 12
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Cover Story (view full-size image): The 2nd COL4A1-A2 International Conference took place on 10 February 2025, at the National Research Council (CNR) in Rome, Italy. This meeting outlined a significant milestone in the international [...] Read more.
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Editorial

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3 pages, 147 KiB  
Editorial
Preface: 2nd COL4A1-A2 International Conference
by Simona Manodoro and Francesca Manodoro
Proceedings 2025, 120(1), 1; https://doi.org/10.3390/proceedings2025120001 - 18 Jun 2025
Viewed by 238
Abstract
The 2nd COL4A1-A2 International Conference took place on 10 February 2025, at the National Research Council (CNR) in Rome, Italy [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)

Research

Jump to: Editorial

2 pages, 116 KiB  
Abstract
Establishing a Clinic for Patients with COL4A1 and COL4A2 Variants: A Multidisciplinary Approach
by Rachel Vassar
Proceedings 2025, 120(1), 2; https://doi.org/10.3390/proceedings2025120002 - 8 Jul 2025
Viewed by 163
Abstract
The Gould Syndrome Clinic at University of California, San Francisco, founded in spring 2024, demonstrates a multidisciplinary model for patient-centered care focused on individuals with COL4A1 and COL4A2 variants [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
2 pages, 129 KiB  
Abstract
Developing Zebrafish Models to Study COL4A1-Related Disease
by Daisy Flatman, Richard W. Naylor, Siobhan Crilly, Emmanuel Pinteaux, Stuart M. Allan, Rachel Lennon and Paul R. Kasher
Proceedings 2025, 120(1), 3; https://doi.org/10.3390/proceedings2025120003 - 8 Jul 2025
Viewed by 188
Abstract
Cerebral small vessel disease (cSVD) is a leading contributor to both stroke and vascular dementia, yet its underlying mechanisms remain poorly understood, and treatment options are limited [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
3 pages, 168 KiB  
Abstract
FishCOLler: Pilot In Vivo Models of COL4A1/A2 Syndrome in Tractable Fish Embryos Recapitulate Neurovascular and Ocular Pathology and Demonstrate Utility for Whole-Organism Variant Testing and Mechanistic Investigation
by Graziamaria Paradisi, Valeria Bonavolontà, Martina Venditti, Giulia Fasano, Catia Pedalino, Marco Tartaglia and Antonella Lauri
Proceedings 2025, 120(1), 4; https://doi.org/10.3390/proceedings2025120004 - 8 Jul 2025
Viewed by 223
Abstract
Collagen IV α1/α2 heterotrimers are the major constituents of all basement membranes (BM). Consistently, COL4A1/A2 mutations cause a complex multisystem disorder. While mouse models are invaluable, they alone cannot support the rapid functional validation needed for clinical translation. The FishCOLler project establishes zebrafish [...] Read more.
Collagen IV α1/α2 heterotrimers are the major constituents of all basement membranes (BM). Consistently, COL4A1/A2 mutations cause a complex multisystem disorder. While mouse models are invaluable, they alone cannot support the rapid functional validation needed for clinical translation. The FishCOLler project establishes zebrafish as a scalable in vivo platform to model COL4A1/A2 disease, employ rapid assays to monitor key disease traits, and enable mechanistic studies. Our first fish disease faithfully models patient symptoms, i.e., brain hemorrhage and ocular dysgenesis. The work supports FishCOLler as a platform for rapid variant interpretation, therapeutics testing, and highlights potential consequences of gene dosage modulation strategies. Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
2 pages, 129 KiB  
Abstract
Age-Dependent Cerebral Vascular Dysfunction and Neurovascular Coupling Deficits in Col4a1 Mutant Mice
by Scott Earley
Proceedings 2025, 120(1), 5; https://doi.org/10.3390/proceedings2025120005 - 8 Jul 2025
Viewed by 165
Abstract
Neurovascular coupling (NVC) is a vital process ensuring that blood flow is rapidly delivered to the most active areas of the brain, supporting the energetic needs of neurons during tasks such as learning, movement, or memory formation [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
3 pages, 183 KiB  
Abstract
Genetic and Phenotypic Overview of Mutations in COL4A1 and COL4A2: Insights from a French Cohort
by Hélène Morel, Thibault Coste, Stéphanie Guey, Dominique Hervé and Elisabeth Tournier-Lasserve
Proceedings 2025, 120(1), 6; https://doi.org/10.3390/proceedings2025120006 - 8 Jul 2025
Viewed by 234
Abstract
Introduction: Type IV collagen, predominantly composed of the COL4A1 and COL4A2 genes, is a crucial component of the basement membrane, essential for maintaining vascular integrity [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
2 pages, 118 KiB  
Abstract
Developing Gene-Targeted Therapies for COL4A1- and COL4A2-Related Disorders: Opportunities and Challenges
by Patricia L. Musolino
Proceedings 2025, 120(1), 7; https://doi.org/10.3390/proceedings2025120007 - 8 Jul 2025
Viewed by 238
Abstract
Background: COL4A1/2-related disorders are genetically driven multisystem diseases characterized by small vessel cerebrovascular pathology, including fetal and perinatal strokes, intracranial hemorrhage, and progressive white matter damage [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
3 pages, 135 KiB  
Abstract
RarE Neuropediatric Diseases Electronic Registry (RENDER): Toward a Unified, High-Resolution Disease Registry
by Davide Politano, Riccardo Bellazzi, Renato Borgatti, Domenico Coviello, Caterina Galandra, Serena Galosi, Vincenzo Leuzzi, Donatella Milani, Romina Romaniello, Alessandro Simonati, Lidia Pezzani, Matteo Terzaghi, Ludovica Pasca and Enza Maria Valente
Proceedings 2025, 120(1), 8; https://doi.org/10.3390/proceedings2025120008 - 14 Jul 2025
Viewed by 207
Abstract
Neuropediatric rare diseases comprise a huge spectrum of clinically heterogeneous conditions, often recognizing a genetic basis [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
2 pages, 131 KiB  
Abstract
Microvascular and Blood–Brain Barrier Dysfunction in COL4A1-Related cSVD Can Be Identified by MR DSC Perfusion Imaging
by Diana Tambala, John P. Snow, Daniel Balentine, Karl G. Helmer, Kenda Alhadid, Patricia L. Musolino and Arne Lauer
Proceedings 2025, 120(1), 9; https://doi.org/10.3390/proceedings2025120009 - 14 Jul 2025
Viewed by 218
Abstract
Introduction: Pathogenic variants in COL4A1 compromise basement membrane integrity, leading to cerebral small vessel disease (cSVD) characterized by white matter hyperintensities (WMHs), microbleeds, and ischemic or hemorrhagic strokes [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
2 pages, 124 KiB  
Abstract
Identifying Mechanism-Based and Mechanism-Agnostic Interventions for Gould Syndrome †
by Mao Mao, Cassandre Labelle-Dumais, Yoshihiro Ishikawa, Matthew D. Lebedev and Douglas B. Gould
Proceedings 2025, 120(1), 10; https://doi.org/10.3390/proceedings2025120010 - 15 Jul 2025
Viewed by 124
Abstract
Gould syndrome is caused by mutations in the genes encoding collagen IV alpha 1 (COL4A1) and 2 (COL4A2)—fundamental basement membrane components that form collagen α1α1α2(IV) heterotrimers [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
3 pages, 132 KiB  
Abstract
Modelling COL4A1/2 SVD Associated Mutations—Towards New Treatment
by Maha Al-Thani, Mary Goodwin-Trotman, Tom Van Agtmael, Hugh S. Markus and Alessandra Granata
Proceedings 2025, 120(1), 11; https://doi.org/10.3390/proceedings2025120011 - 8 Jul 2025
Viewed by 107
Abstract
Cerebral small vessel disease (SVD) is a leading cause of stroke and vascular dementia, yet its underlying mechanisms remain incompletely understood [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
3 pages, 163 KiB  
Abstract
COL4A1- and COL4A2-Related Disorders—Clinical Features, Diagnostic Guidelines, and Management
by Diana Tambala, Rachel Vassar, John Snow, Simona Balestrini, Anna Bersano, Stéphanie Guey, Eleonora Bonaventura, Sabrina Signorini, Stefano Sartori, Enrico Bertini, Davide Tonduti, Cecilia Parazzini, Marina Macchiaiolo, Maria Federica Pelizza, Anna Pichiecchio, Laura Massella, Thibault Coste, Simona Orcesi, Davide Politano, Giacomo Bacci, Elisa Marziali, Helene Dollfus, Anna Mandelli, Marcello Chinali, Emmanuelle Plaisier, Paolo Simioni, Raffaella Colombati, Renzo Guerrini, Elisabeth Tournier-Lasserve, Douglas B. Gould and Patricia L. Musolinoadd Show full author list remove Hide full author list
Proceedings 2025, 120(1), 12; https://doi.org/10.3390/proceedings2025120012 - 28 Jul 2025
Viewed by 221
Abstract
Background: The COL4A1 and COL4A2 genes encode the alpha-1 and alpha-2 chains of type IV collagen, which are fundamental components of the basement membrane, playing key roles in both structural support and cellular regulation [...] Full article
(This article belongs to the Proceedings of The 2nd COL4A1-A2 International Conference)
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