Structural & Functional Repercussions of Loss
of Function & Clinical Mutants of Presenilin

By Omar Nyabi
May 2005
Leuven University Press
ISBN: 9058674592
105 pages, Illustrated, 6 " x 9 "
$72.50 Paper Original

This is a Ph.D. dissertation. Alzheimer's disease is a major health problem. The disease is clinically characterized by the progressive mental decline of the patients and pathologically by the accumulation of amyloid plaques and tangles and neurodegenerative changes in the brain.

The cause of the disease remains unclear but in some cases, genetic (missense) mutations in the Amyloid Precursor Protein (APP) and in the Presenilin genes (PS1 & PS2) are sufficient to initiate the whole disease cascade.

All these mutations cause in essence an increase in the generation or a change of the characteristics of the AB peptide making it more prone to produce amyloid plaques. The AB peptide is generated from the APP protein and the question how Presenilin influences APP processing and AB production is the main topic of our work.

Acta Biomedica Lovaniensia, No. 341

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