Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is the most common monogenic form of ischemic cerebral small-vessel disease. CADASIL is associated with highly stereotypical mutations in the extracellular domain of the Notch 3 receptor. Working in collaboration with the Artavanis-Tsakonas lab we demonstrated that two phenotypically distinct human mutations define different hypomorphic activity states of the receptor and are characterizing transgenic mouse models that parallel remarkably the human condition.
- Notch and disease: a growing field.Louvi A, Artavanis-Tsakonas S. Semin Cell Dev Biol. 2012 Jun; 2012 Feb 20. PMID: 22373641.
- Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.Arboleda-Velasquez JF, Manent J, Lee JH, Tikka S, Ospina C, Vanderburg CR, Frosch MP, Rodríguez-Falcón M, Villen J, Gygi S, Lopera F, Kalimo H, Moskowitz MA, Ayata C, Louvi A, Artavanis-Tsakonas S. Proc Natl Acad Sci U S A. 2011 May 24; 2011 May 9. PMID: 21555590.
- Linking Notch signaling to ischemic stroke.Arboleda-Velasquez JF, Zhou Z, Shin HK, Louvi A, Kim HH, Savitz SI, Liao JK, Salomone S, Ayata C, Moskowitz MA, Artavanis-Tsakonas S. Proc Natl Acad Sci U S A. 2008 Mar 25; 2008 Mar 17. PMID: 18347334.