Article
Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations.
The Journal of biological chemistry - 1 Jun 2023
Lee Soo Jung, Zhang Xiaojie, Wu Emily, Sukpraphrute Richard, Sukpraphrute Catherine, Ye Andrew, Wang Michael M
Abstract excerpt
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease that results from mutations in NOTCH3. How mutations in NOTCH3 ultimately result in disease is not clear, although there is a predilection for mutations to alter the number of cysteines of the gene product, supporting a model in which alterations of conserved disulfide bonds of...
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