Associated Papers
Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage.
McNeilly S et al.
Ebiomedicine, 2024
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases.
Al-Thani M et al.
Stem Cell Reports, 2023
Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.
Bateman JF et al.
Connective Tissue Research, 2022
Material-driven fibronectin assembly rescues matrix defects due to mutations in collagen IV in fibroblasts.
Ngandu Mpoyi E et al.
Biomaterials, 2020
'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms.
Kollmann P et al.
Journal of Neurology, 2016
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
Ha TT et al.
American Journal of Medical Genetics. Part A, 2016
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
Murray LS et al.
Human Molecular Genetics, 2014
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