Presenilin is the enzymatic component of gamma-secretase, a multisubunit intramembrane protease that processes several transmembrane receptors, such as the amyloid precursor protein (APP). Mutations in human Presenilins lead to altered APP cleavage and early-onset Alzheimer's disease. Presenilins also play an essential role in Notch receptor cleavage and signaling.
View Article and Find Full Text PDFThe phenotypic effects in imaginal hypodermal tissue of a number of Abdominal-B mutations of the bithorax complex are described. Evidence is given from complementation analysis that the phenotypic heterogeneity in both the spatial limits and the nature of the homeotic transformations produced is not an arbitrary classification of allelic differences that we find. We have used genetic mosaic analysis to support the interpretation that the Abdominal-B genetic unit can exist in a number of alternative functional states of expression during development and that individual Abdominal-B mutations may abolish some states whilst leaving others unaffected.
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