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Spontaneous aggregation of CADASIL-mutated Notch3

C Opherk, M Düring, N Peters, B Bader, A Giese, M Dichgans · Aktuelle Neurologie · 2008 · Heft 09

Dokument
1041775
CareLit-ID
Jahr
2008
Publikation
PDF
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Aktuelle Neurologie
Autor:innen
C Opherk, M Düring, N Peters, B Bader, A Giese, M Dichgans
Ausgabe
Heft 09 / 2008
Seiten
–
Erschienen: 2008-09-02 00:00:00
ISSN
0302-4350
DOI
10.1055/s-0028-1086825

Zusammenfassung

Background: Mutations in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary small vessel disease leading to recurrent stroke and vascular dementia. Disease-causing mutations invariably affect cysteine residues within epidermal growth factor (EGF)-like repeat domains in the extracellular domain of the Notch3 (N3) receptor. A central histopathological feature of CADASIL is the accumulation or aggregation of the N3 extracellular domain in the vessel wall in close vicinity of vascular smooth muscle cells, which are the predominan…

Schlagworte

CADASIL Calcium Cysteine Dementia Affect Aktuelle Neurologie