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Simon Laws

2013

ADAM10

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Full-Text Articles in Medicine and Health Sciences

Lack Of Evidence To Support The Association Of Polymorphisms Within The Alpha- And Beta-Secretase Genes (Adam10/Bace1) With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, Alexander Kurz, H Forstl, Matthias Riemenschneider Oct 2013

Lack Of Evidence To Support The Association Of Polymorphisms Within The Alpha- And Beta-Secretase Genes (Adam10/Bace1) With Alzheimer's Disease, Simon Laws, Klaus Eckart, Patricia Friedrich, Alexander Kurz, H Forstl, Matthias Riemenschneider

Simon Laws

Cleavage of the amyloid precursor protein (APP) occurs through either an amyloidogenic or a non-amyloidogenic pathway. The first results in the generation of beta-amyloid (A ) and is initiated through cleavage by the beta-site amyloid beta A4 precursor protein-cleaving enzyme 1 (BACE1). The second precludes the formation of A through cleavage by alpha-secretase, an enzyme’s activity demonstrated in a disintegrin metalloproteinase, ADAM10. To assess the contribution of variants in the BACE1 and ADAM10 genes we used a detailed fine mapping approach. Genotyping of 11 single nucleotide polymorphisms covering the complete BACE1 gene, and 27 covering the entire ADAM10 gene, revealed …