CADASIL mutations impair Notch3 glycosylation by Fringe-Reference-Cited by-同舟云学术

CADASIL mutations impair Notch3 glycosylation by Fringe

Published:2005-04-27 Issue:12 Volume:14 Page:1631-1639
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Arboleda-Velasquez Joseph F.,Rampal Raajit,Fung Erik,Darland Diane C.,Liu Min,Martinez Maria C.,Donahue Christine P.,Navarro-Gonzalez Manuel F.,Libby Peter,D'Amore Patricia A.,Aikawa Masanori,Haltiwanger Robert S.,Kosik Kenneth S.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/14/12/1631/1794967/ddi171.pdf

Reference35 articles.

1. Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenga, V., Cecillion, M., Marechal, E. et al. (1996) Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature, 383, 707–710.

2. Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenga, V., Cecillion, M., Marechal, E. et al. (1997) Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a Mendelian condition causing stroke and vascular dementia. Ann. NY Acad. Sci., 826, 213–217.

3. Dichgans, M., Mayer, M., Uttner, I., Bruning, R., Muller-Hocker, J., Rungger, G., Ebke, M., Klockgether, T. and Gasser, T. (1998) The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann. Neurol., 44, 731–739.

4. Ruchoux, M.M., Guerouaou, D., Vandenhaute, B., Pruvo, J.P., Vermersch, P. and Leys, D. (1995) Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol. (Berl), 89, 500–512.

5. Joutel, A., Andreux, F., Gaulis, S., Domenga, V., Cecillon, M., Battail, N., Piga, N., Chapon, F., Godfrain, C. and Tournier-Lasserve, E. (2000) The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J. Clin. Invest., 105, 597–605.

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