Notch3 protein expression in skin fibroblasts from CADASIL patients

CADASIL is an inherited cerebrovascular disease caused by mutations in the NOTCH3 gene. Notch signaling is involved in a broad spectrum of function, from the cell proliferation to apoptosis. Thus far, because the molecular mechanism underlying the pathological alterations remains unclear and taking into account that fibroblasts contribute to the integrity of the vasculature, our aims was to establish whether fibroblasts, in subjects carrying different NOTCH3 mutations, show abnormalities in the protein expression.

Source: Journal of the Neurological Sciences - April 18, 2018 Category: Neurology Authors: Antonio Qualtieri, Carmine Ungaro, Angelo Bagal à, Silvia Bianchi, Leonardo Pantoni, Marcello Moccia, Rosalucia Mazzei Source Type: research