Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping:in vitroproof of concept

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, or CADASIL, is a hereditary cerebral small vessel disease caused by characteristic cysteine altering missense mutations in the NOTCH3 gene. NOTCH3 mutations in CADASIL result in an uneven number of cysteine residues in one of the 34 epidermal growth factor like-repeat (EGFr) domains of the NOTCH3 protein. The consequence...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cell Adhesion Molecules Research
• Share to Cerebrovascular and genetic disorders
• Share to Metalloenzymes and iron-sulfur proteins