Article
Dysregulation of hypoxia-inducible factor by presenilin/γ-secretase loss-of-function mutations.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 30 Jan 2013
Kaufmann Muriel R, Barth Sandra, Konietzko Uwe, Wu Bei, Egger Sascha, Kunze Reiner, Marti Hugo H, Hick Meike, Müller Ulrike, Camenisch Gieri, Wenger Roland H
Abstract excerpt
Presenilin (PSEN) 1 and 2 are the catalytic components of the γ-secretase complex, which cleaves a variety of proteins, including the amyloid precursor protein (APP). Proteolysis of APP leads to the formation of the APP intracellular domain (AICD) and amyloid β that is crucially involved in the pathogenesis of Alzheimer's disease. Prolyl-4-hydroxylase-domain (PHD) proteins regulate the hypoxia-inducible factors...
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