Article
Contribution of "Omic" Studies to the Understanding of Cadasil. A Systematic Review.
International journal of molecular sciences - 8 Jul 2021
Muiño Elena, Fernández-Cadenas Israel, Arboix Adrià
Abstract excerpt
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the epidermal growth factor (EGF)-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraines, psychiatric disorders, recurrent strokes, and dementia. Omic technologies allow the...
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