Cysteine-Sparing CADASIL Mutations in NOTCH3 Show Proaggregatory Properties In Vitro [Clinical Sciences]

Conclusions— Our findings support the view that cysteine-sparing mutations, such as D80G, might cause CADASIL with a phenotype largely indistinguishable from cysteine mutations. The in vitro aggregation analysis of atypical NOTCH3 mutations offers novel insights into pathomechanisms and might represent a tool for estimating their clinical significance.

http://stroke.ahajournals.org/cgi/content/short/46/3/786?rss=1

Source: Stroke - February 23, 2015 Category: Neurology Authors: Wollenweber, F. A., Hanecker, P., Bayer-Karpinska, A., Malik, R., Bazner, H., Moreton, F., Muir, K. W., Muller, S., Giese, A., Opherk, C., Dichgans, M., Haffner, C., Duering, M. Tags: Clinical genetics, Cerebrovascular disease/stroke, Other diagnostic testing, Other Vascular biology Clinical Sciences Source Type: research