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Cerebral small vessel disease due to <i>Col4a1</i> mutations include cognitive impairment and white matter defects that can be modulated by targeting protein folding

2025-04-04

Abstract excerpt

White matter abnormalities are a hallmark of cerebral small vessel disease (cSVD) and are closely linked to cognitive decline and dementia. However, despite their clinical importance, underlying mechanisms remain poorly understood. Collagen IV, encoded by genes COL4A1/COL4A2 , is a major component of the basement membrane, a specialised extracellular matrix (ECM) structure. Mutations in these genes cause a geneti...

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Literature Corpus work
17d583d9-59b9-5f62-be64-22eb1df87b2f
DOI
10.1101/2025.04.04.647207
Open publication

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