Article
Oxidative stress-induced apoptosis in two patients with Alagille syndrome.
Journal of the neurological sciences - 15 Sept 2011
Radi Elena, Formichi Patrizia, Di Maio Giuseppe, Battisti Carla, Federico Antonio
Abstract excerpt
Alagille syndrome (AGS) is an autosomal dominant disorder characterized by cholestasis, cardiac, skeletal and ocular abnormalities. Increasing importance is being given to vascular and central nervous system impairment. AGS is in most cases caused by heterozygous mutations in the Jagged-1 (JAG1) gene encoding a cell-surface ligand of the Notch receptors. The interaction between Notch1 and JAG1 induces...
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