title: Physiology and pathology of notch signalling system.
abstract: Notch proteins encode a family of transmembrane receptors that are part of a signalling transduction system known as Notch signalling, an extremely conserved and widely used mechanism regulating programs governing growth, apoptosis and differentiation in metazoans. Notch signalling begins when the Notch receptor binds ligands and ends when the Notch intracellular domain enters the nucleus and activates transcription of target genes. This core pathway is subjected to a wide array of regulatory influences and protein-protein interactions and is correlated with other signalling pathway. This review will summarize recent findings concerning the physiology and pathology of Notch signalling in vascular development and homeostasis. Moreover, the clinical phenotypes of Notch3 signalling system pathology will be described, with particular regard to CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) for which the most recent pathogenetic hypotheses are reported.
authors.affiliation: Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Bianchi
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D000818:Animals; D051792:Basic Helix-Loop-Helix Proteins; D046589:CADASIL / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D008954:Models, Biological; D009154:Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics / Q000502:physiology*; D015398:Signal Transduction / Q000502:physiology*; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology; D014652:Vascular Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D004268:DNA-Binding Proteins; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D014157:Transcription Factors; C499374:NOTCH3 protein, human