Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Molecular Psychiatry
Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Nature Communications
Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH
Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.
Neurobiology Of Aging
Natelson Love, Marissa M; Clark, David G DG; Cochran, J Nicholas JN; Den Beste, Kyle A KA; Geldmacher, David S DS; Benzinger, Tammie L TL; Gordon, Brian A BA; Morris, John C JC; Bateman, Randall J RJ; Roberson, Erik D ED
Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.
The Journal Of Biological Chemistry
Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H