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CADASIL brain vessels show a HTRA1 loss-of-function profile.
Zellner A, Scharrer E, Arzberger T, Oka C, Domenga-Denier V, Joutel A, Lichtenthaler SF, Müller SA, Dichgans M, Haffner C. Zellner A, et al. Among authors: haffner c. Acta Neuropathol. 2018 Jul;136(1):111-125. doi: 10.1007/s00401-018-1853-8. Epub 2018 May 3. Acta Neuropathol. 2018. PMID: 29725820
Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis.
Duering M, Karpinska A, Rosner S, Hopfner F, Zechmeister M, Peters N, Kremmer E, Haffner C, Giese A, Dichgans M, Opherk C. Duering M, et al. Among authors: haffner c. Hum Mol Genet. 2011 Aug 15;20(16):3256-65. doi: 10.1093/hmg/ddr237. Epub 2011 May 30. Hum Mol Genet. 2011. PMID: 21628316
Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.
Wollenweber FA, Hanecker P, Bayer-Karpinska A, Malik R, Bäzner H, Moreton F, Muir KW, Müller S, Giese A, Opherk C, Dichgans M, Haffner C, Duering M. Wollenweber FA, et al. Among authors: haffner c. Stroke. 2015 Mar;46(3):786-92. doi: 10.1161/STROKEAHA.114.007472. Epub 2015 Jan 20. Stroke. 2015. PMID: 25604251
Reply to Liu et al.: Loss of TGF-β signaling in CARASIL pathogenesis.
Beaufort N, Scharrer E, Lux V, Ehrmann M, Haffner C, Dichgans M. Beaufort N, et al. Among authors: haffner c. Proc Natl Acad Sci U S A. 2015 Apr 7;112(14):E1694. doi: 10.1073/pnas.1501817112. Epub 2015 Mar 13. Proc Natl Acad Sci U S A. 2015. PMID: 25770223 Free PMC article. No abstract available.
132 results