Article
Alzheimer's disease BIN1 coding variants increase intracellular Aβ levels by interfering with BACE1 recycling.
The Journal of biological chemistry - 1 Sept 2021
Perdigão Catarina, Barata Mariana A, Burrinha Tatiana, Guimas Almeida Cláudia
Abstract excerpt
Genetic studies have identified BIN1 as the second most important risk locus associated with late-onset Alzheimer's disease (LOAD). However, it is unclear how mutation of this locus mechanistically promotes Alzheimer's disease (AD) pathology. Here we show the consequences of two coding variants in BIN1 (rs754834233 and rs138047593), both in terms of intracellular beta-amyloid (iAbeta) accumulation and early...
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