CADASIL mutations enhance spontaneous multimerization of NOTCH3

By Opherk Christian   Duering Marco   Peters Nils   Karpinska Anna   Rosner Stefanie   Schneider Elisabeth   Bader Benedikt   Giese Armin   Dichgans Martin  

Human Molecular Genetics, Vol. 18, Iss. 15, 2009-08 ,pp. : 2761-2767

Oxford University Press

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Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis

By Duering Marco   Karpinska Anna   Rosner Stefanie   Hopfner Franziska   Zechmeister Martin   Peters Nils   Kremmer Elisabeth   Haffner Christof   Giese Armin   Dichgans Martin   Opherk Christian  

Human Molecular Genetics, Vol. 20, Iss. 16, 2011-08 ,pp. : 3256-3265

Oxford University Press

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The archetypal R90C CADASIL NOTCH3 mutation retains NOTCH3 function in vivo

By Monet Marie   Domenga Valrie   Lemaire Barbara   Souilhol Cline   Langa Francina   Babinet Charles   Gridley Thomas   Tournier-Lasserve Elisabeth   Cohen-Tannoudji Michel   Joutel Anne  

Human Molecular Genetics, Vol. 16, Iss. 8, 2007-04 ,pp. : 982-992

Oxford University Press

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Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation

By Takahashi Keikichi   Adachi Kayo   Yoshizaki Kaichi   Kunimoto Shohko   Kalaria Raj N.   Watanabe Atsushi  

Human Molecular Genetics, Vol. 19, Iss. 1, 2010-01 ,pp. : 79-89

Oxford University Press

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Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells†This article is dedicated to our colleague Kevin Langton, who died suddenly on 19th December 2004. We all miss his intellect, practical skills and sense of humor.

By Langton Kevin P.   McKie Norman   Smith Brenda M.   Brown Nicola J.   Barker Michael D.  

Human Molecular Genetics, Vol. 14, Iss. 23, 2005-12 ,pp. : 3579-3586

Oxford University Press

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