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

A Gschwendtner, N Peters, C Opherk, A Capell, P Gempel, M Dichgans · Aktuelle Neurologie · Ausgabe 09/2004

DOI 10.1055/s-2004-833309

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Autor:innenA Gschwendtner, N Peters, C Opherk, A Capell, P Gempel, M Dichgans
ZeitschriftAktuelle Neurologie
Ausgabe09/2004
Jahrgang / SeitenNicht angegeben

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Abstract-Vorschau

Mutations in the Notch3 gene are the cause of CADASIL, a hereditary microangiopathy leading to stroke and vascular dementia. Typical mutations lead to an odd number of cysteine residues within an epidermal-growth-factor (EGF-) repeat in the extracellular domain of the Notch3 transmembrane receptor. In CADASIL, the extracellular domain of Notch3 (N3ECD) is deposited in the vicinity of vascular smooth muscle cells (VS…

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A Gschwendtner, N Peters, C Opherk, A Capell, P Gempel, M Dichgans (2004) CADASIL associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2004-833309

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