Next Issue
Volume 121, SUSTENS 2025
Previous Issue
Volume 119, IECAN 2025
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Proceedings
Volume 120
Issue 1
proceedings-logo

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Proceedings, 2025, COL4A1-A2

  • Issues are regarded as officially published after their release is announced to the table of contents alert mailing list.
  • You may sign up for e-mail alerts to receive table of contents of newly released issues.
  • PDF is the official format for papers published in both, html and pdf forms. To view the papers in pdf format, click on the "PDF Full-text" link, and use the free Adobe Reader to open them.
Number of Papers: 11
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Editorial

Jump to: Research

3 pages, 141 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 212
Abstract
The 2nd COL4A1-A2 International Conference took place on 10 February 2025, at the National Research Council (CNR) in Rome, Italy [...] Full article

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 109
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
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 126
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
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 150
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
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 108
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
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 129
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
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 124
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
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 83
Abstract
Neuropediatric rare diseases comprise a huge spectrum of clinically heterogeneous conditions, often recognizing a genetic basis [...] Full article
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 75
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
0 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
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
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
Abstract
Cerebral small vessel disease (SVD) is a leading cause of stroke and vascular dementia, yet its underlying mechanisms remain incompletely understood [...] Full article
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-11
Previous Issue
Next Issue
Back to TopTop