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Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Verdura E, Hervé D, Scharrer E, Amador Mdel M, Guyant-Maréchal L, Philippi A, Corlobé A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E. Verdura E, et al. Among authors: beaufort n. Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10. Brain. 2015. PMID: 26063658
Proteomic profiling in cerebral amyloid angiopathy reveals an overlap with CADASIL highlighting accumulation of HTRA1 and its substrates.
Zellner A, Müller SA, Lindner B, Beaufort N, Rozemuller AJM, Arzberger T, Gassen NC, Lichtenthaler SF, Kuster B, Haffner C, Dichgans M. Zellner A, et al. Among authors: beaufort n. Acta Neuropathol Commun. 2022 Jan 24;10(1):6. doi: 10.1186/s40478-021-01303-6. Acta Neuropathol Commun. 2022. PMID: 35074002 Free PMC article.
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. 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.
Stroke Genetics: Turning Discoveries into Clinical Applications.
Dichgans M, Beaufort N, Debette S, Anderson CD. Dichgans M, et al. Among authors: beaufort n. Stroke. 2021 Aug;52(9):2974-2982. doi: 10.1161/STROKEAHA.121.032616. Epub 2021 Aug 17. Stroke. 2021. PMID: 34399583 Free PMC article. Review.
IKKβ binds NLRP3 providing a shortcut to inflammasome activation for rapid immune responses.
Asare Y, Shnipova M, Živković L, Schlegl C, Tosato F, Aronova A, Brandhofer M, Strohm L, Beaufort N, Malik R, Weber C, Bernhagen J, Dichgans M. Asare Y, et al. Among authors: beaufort n. Signal Transduct Target Ther. 2022 Oct 19;7(1):355. doi: 10.1038/s41392-022-01189-3. Signal Transduct Target Ther. 2022. PMID: 36257930 Free PMC article. No abstract available.
Common coding variant in SERPINA1 increases the risk for large artery stroke.
Malik R, Dau T, Gonik M, Sivakumar A, Deredge DJ, Edeleva EV, Götzfried J, van der Laan SW, Pasterkamp G, Beaufort N, Seixas S, Bevan S, Lincz LF, Holliday EG, Burgess AI, Rannikmäe K, Minnerup J, Kriebel J, Waldenberger M, Müller-Nurasyid M, Lichtner P, Saleheen D; International Stroke Genetics Consortium; Rothwell PM, Levi C, Attia J, Sudlow CL, Braun D, Markus HS, Wintrode PL, Berger K, Jenne DE, Dichgans M. Malik R, et al. Among authors: beaufort n. Proc Natl Acad Sci U S A. 2017 Apr 4;114(14):3613-3618. doi: 10.1073/pnas.1616301114. Epub 2017 Mar 6. Proc Natl Acad Sci U S A. 2017. PMID: 28265093 Free PMC article.
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