Ontology highlight
ABSTRACT:
SUBMITTER: Pippucci T
PROVIDER: S-EPMC4459822 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Pippucci Tommaso T Maresca Alessandra A Magini Pamela P Cenacchi Giovanna G Donadio Vincenzo V Palombo Flavia F Papa Valentina V Incensi Alex A Gasparre Giuseppe G Valentino Maria Lucia ML Preziuso Carmela C Pisano Annalinda A Ragno Michele M Liguori Rocco R Giordano Carla C Tonon Caterina C Lodi Raffaele R Parmeggiani Antonia A Carelli Valerio V Seri Marco M
EMBO molecular medicine 20150601 6
Notch signaling is essential for vascular physiology. Neomorphic heterozygous mutations in NOTCH3, one of the four human NOTCH receptors, cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Hypomorphic heterozygous alleles have been occasionally described in association with a spectrum of cerebrovascular phenotypes overlapping CADASIL, but their pathogenic potential is unclear. We describe a patient with childhood-onset arteriopathy, cavita ...[more]