Proceedings, Volume 120, Issue 1

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 [...]

Cerebral small vessel disease (SVD) is a leading cause of stroke and vascular dementia, yet its underlying mechanisms remain incompletely understood [...]

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 [...]

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 [...]

Neuropediatric rare diseases comprise a huge spectrum of clinically heterogeneous conditions, often recognizing a genetic basis [...]

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 [...]...

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 [...]

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 func...

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 [...]

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 [...]