Article
Light-chain split luciferase assay implicates pathological NOTCH3 thiol reactivity in inherited cerebral small vessel disease.
The Journal of biological chemistry - 1 Mar 2025
Cartee Naw May Pearl, Lee Soo Jung, Wu Emily, Sukpraphrute Richard, Sukpraphrute Catherine, Greenbaum Jolie, Wang Michael M
Abstract excerpt
Stereotyped mutations in NOTCH3 drive CADASIL, the leading inherited cause of stroke and vascular dementia. The vast majority of these mutations result in alterations in the number of cysteines in the gene product. However, non-cysteine-altering pathogenic mutations have also been identified, making it challenging to discriminate pathogenic from benign NOTCH3 sequence variants. Here, we present a method for...
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