Amalia C. Bruni

TL;DR: A minimal cosegregating region containing the AD3 gene is defined, and at least 19 different transcripts encoded within this region corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein.

TL;DR: The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21 and provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome.

TL;DR: It is reported here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease, and it is shown that SOR l1 directs trafficking of APP into recycling pathways and that when SORl1 is underexpressed, APP is sorted into Aβ-generating compartments.

TL;DR: Nicastrin and presenilins are likely to be functional components of a multimeric complex necessary for the intramembranous proteolysis of proteins such as Notch/GLP-1 and βAPP.

TL;DR: Three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease are observed, providing additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's Disease.