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Items: 1 to 20 of 231

1.

The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo.

Monet M, Domenga V, Lemaire B, Souilhol C, Langa F, Babinet C, Gridley T, Tournier-Lasserve E, Cohen-Tannoudji M, Joutel A.

Hum Mol Genet. 2007 Apr 15;16(8):982-92. Epub 2007 Mar 1.

PMID:
17331978
2.

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain.

Monet-Leprêtre M, Bardot B, Lemaire B, Domenga V, Godin O, Dichgans M, Tournier-Lasserve E, Cohen-Tannoudji M, Chabriat H, Joutel A.

Brain. 2009 Jun;132(Pt 6):1601-12. doi: 10.1093/brain/awp049. Epub 2009 Mar 17.

3.

Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL.

Monet-Leprêtre M, Haddad I, Baron-Menguy C, Fouillot-Panchal M, Riani M, Domenga-Denier V, Dussaule C, Cognat E, Vinh J, Joutel A.

Brain. 2013 Jun;136(Pt 6):1830-45. doi: 10.1093/brain/awt092. Epub 2013 May 6.

4.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel C82R mutation in the NOTCH3 gene.

Zea-Sevilla MA, Bermejo-Velasco P, Serrano-Heranz R, Calero M.

J Alzheimers Dis. 2015;43(2):363-7. doi: 10.3233/JAD-141218.

PMID:
25096610
5.

Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.

Meng H, Zhang X, Yu G, Lee SJ, Chen YE, Prudovsky I, Wang MM.

PLoS One. 2012;7(9):e44964. doi: 10.1371/journal.pone.0044964. Epub 2012 Sep 18.

6.

Archetypal Arg169Cys mutation in NOTCH3 does not drive the pathogenesis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy via a loss-of-function mechanism.

Cognat E, Baron-Menguy C, Domenga-Denier V, Cleophax S, Fouillade C, Monet-Leprêtre M, Dewerchin M, Joutel A.

Stroke. 2014 Mar;45(3):842-9. doi: 10.1161/STROKEAHA.113.003339. Epub 2014 Jan 14. Erratum in: Stroke. 2014 Mar;45(3):e51.

8.

CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk.

Peters N, Opherk C, Zacherle S, Capell A, Gempel P, Dichgans M.

Exp Cell Res. 2004 Oct 1;299(2):454-64.

PMID:
15350543
9.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy affecting an African American man: identification of a novel 15-base pair NOTCH3 duplication.

Lee SJ, Meng H, Elmadhoun O, Blaivas M, Wang MM.

Arch Neurol. 2011 Dec;68(12):1584-6. doi: 10.1001/archneurol.2011.781.

PMID:
22159056
10.

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

Rutten JW, Dauwerse HG, Peters DJ, Goldfarb A, Venselaar H, Haffner C, van Ommen GJ, Aartsma-Rus AM, Lesnik Oberstein SA.

Brain. 2016 Apr;139(Pt 4):1123-35. doi: 10.1093/brain/aww011. Epub 2016 Feb 19.

PMID:
26912635
11.

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.

Rutten JW, Klever RR, Hegeman IM, Poole DS, Dauwerse HG, Broos LA, Breukel C, Aartsma-Rus AM, Verbeek JS, van der Weerd L, van Duinen SG, van den Maagdenberg AM, Lesnik Oberstein SA.

Acta Neuropathol Commun. 2015 Dec 29;3:89. doi: 10.1186/s40478-015-0268-1.

12.

Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits.

Kast J, Hanecker P, Beaufort N, Giese A, Joutel A, Dichgans M, Opherk C, Haffner C.

Acta Neuropathol Commun. 2014 Aug 13;2:96. doi: 10.1186/s40478-014-0096-8.

13.

[Study of the familiar form of vascular dementia (CADASIL)].

Takahashi K, Yoshizaki K.

Nihon Shinkei Seishin Yakurigaku Zasshi. 2007 Jun;27(3):141-5. Review. Japanese.

PMID:
17633526
14.

Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature.

Joutel A.

Bioessays. 2011 Jan;33(1):73-80. doi: 10.1002/bies.201000093. Epub 2010 Oct 21. Review.

PMID:
20967782
15.
16.

Transendocytosis is impaired in CADASIL-mutant NOTCH3.

Watanabe-Hosomi A, Watanabe Y, Tanaka M, Nakagawa M, Mizuno T.

Exp Neurol. 2012 Jan;233(1):303-11. doi: 10.1016/j.expneurol.2011.10.020. Epub 2011 Oct 28.

PMID:
22079830
17.

Functional analysis of a recurrent missense mutation in Notch3 in CADASIL.

Haritunians T, Chow T, De Lange RP, Nichols JT, Ghavimi D, Dorrani N, St Clair DM, Weinmaster G, Schanen C.

J Neurol Neurosurg Psychiatry. 2005 Sep;76(9):1242-8.

18.

CADASIL mutations enhance spontaneous multimerization of NOTCH3.

Opherk C, Duering M, Peters N, Karpinska A, Rosner S, Schneider E, Bader B, Giese A, Dichgans M.

Hum Mol Genet. 2009 Aug 1;18(15):2761-7. doi: 10.1093/hmg/ddp211. Epub 2009 May 5.

PMID:
19417009
19.

A novel cysteine-sparing NOTCH3 mutation in a Chinese family with CADASIL.

Ge W, Kuang H, Wei B, Bo L, Xu Z, Xu X, Geng D, Sun M.

PLoS One. 2014 Aug 6;9(8):e104533. doi: 10.1371/journal.pone.0104533. eCollection 2014.

20.

New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).

Abramycheva N, Stepanova M, Kalashnikova L, Zakharova M, Maximova M, Tanashyan M, Lagoda O, Fedotova E, Klyushnikov S, Konovalov R, Sakharova A, Illarioshkin S.

J Neurol Sci. 2015 Feb 15;349(1-2):196-201. doi: 10.1016/j.jns.2015.01.018. Epub 2015 Jan 17.

PMID:
25623805

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