Ontology highlight
ABSTRACT:
SUBMITTER: Joutel A
PROVIDER: S-EPMC289174 | biostudies-literature | 2000 Mar
REPOSITORIES: biostudies-literature
Joutel A A Andreux F F Gaulis S S Domenga V V Cecillon M M Battail N N Piga N N Chapon F F Godfrain C C Tournier-Lasserve E E
The Journal of clinical investigation 20000301 5
Mutations in Notch3 cause CADASIL (cerebral autosomal dominant adult onset arteriopathy), which leads to stroke and dementia in humans. CADASIL arteriopathy is characterized by major alterations of vascular smooth muscle cells and the presence of specific granular osmiophilic deposits. Patients carry highly stereotyped mutations that lead to an odd number of cysteine residues within EGF-like repeats of the Notch3 receptor extracellular domain. Such mutations may alter the processing or the traff ...[more]