What is it about?
Genetic factors play important roles in Alzheimer's pathogenesis. One of the top genetic risk factors is ABCA7. This work indicates that the genetic variations (single nucleotide polymorphisms) identified in large cohorts of genetic studies dysregulated ABCA7 expression or enhanced BACE1 activity and beta-amyloid production in cells.
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Why is it important?
This work helps to understand the functional roles of those genetic variaions in the pathogenesis of Alzheimer's disease.
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This page is a summary of: Genetic Variations in ABCA7 Can Increase Secreted Levels of Amyloid-β40 and Amyloid-β42 Peptides and ABCA7 Transcription in Cell Culture Models, Journal of Alzheimer s Disease, August 2016, IOS Press,
DOI: 10.3233/jad-150965.
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