Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL

Conclusions: The mutant HTRA1s observed in manifesting heterozygotes might result in an impaired HTRA1 activation cascade of HTRA1 or be unable to form stable trimers.

http://www.neurology.org/cgi/content/short/86/21/1964?rss=1

Source: Neurology - May 22, 2016 Category: Neurology Authors: Nozaki, H., Kato, T., Nihonmatsu, M., Saito, Y., Mizuta, I., Noda, T., Koike, R., Miyazaki, K., Kaito, M., Ito, S., Makino, M., Koyama, A., Shiga, A., Uemura, M., Sekine, Y., Murakami, A., Moritani, S., Hara, K., Yokoseki, A., Kuwano, R., Endo, N., Momots Tags: Stroke in young adults, Other cerebrovascular disease/ Stroke, CADASIL, Vascular dementia ARTICLE Source Type: research