The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.
Brain Communications
Willumsen, Nanet N; Arber, Charles C; Lovejoy, Christopher C; Toombs, Jamie J; Alatza, Argyro A; Weston, Philip S J PSJ; Chávez-Gutiérrez, Lucia L; Hardy, John J; Zetterberg, Henrik H; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T; Wray, Selina S
Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer's disease.
Acta Neuropathologica Communications
Chen, Hsiang-Han HH; Eteleeb, Abdallah A; Wang, Ciyang C; Fernandez, Maria Victoria MV; Budde, John P JP; Bergmann, Kristy K; Norton, Joanne J; Wang, Fengxian F; Ebl, Curtis C; Morris, John C JC; Perrin, Richard J RJ; Bateman, Randall J RJ; McDade, Eric E; Xiong, Chengjie C; Goate, Alison A; Farlow, Martin M; Chhatwal, Jasmeer J; Schofield, Peter R PR; Chui, Helena H; Harari, Oscar O; Cruchaga, Carlos C; Ibanez, Laura L; ,
Tumour necrosis factor induces increased production of extracellular amyloid-β- and α-synuclein-containing aggregates by human Alzheimer's disease neurons.
Brain Communications
Whiten, Daniel R DR; Brownjohn, Philip W PW; Moore, Steven S; De, Suman S; Strano, Alessio A; Zuo, Yukun Y; Haneklaus, Moritz M; Klenerman, David D; Livesey, Frederick J FJ
Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.
Cell Reports
Arber, Charles C; Lovejoy, Christopher C; Harris, Lachlan L; Willumsen, Nanet N; Alatza, Argyro A; Casey, Jackie M JM; Lines, Georgie G; Kerins, Caoimhe C; Mueller, Anika K AK; Zetterberg, Henrik H; Hardy, John J; Ryan, Natalie S NS; Fox, Nick C NC; Lashley, Tammaryn T; Wray, Selina S
Human Pluripotent Stem Cell-Derived Neural Cells as a Relevant Platform for Drug Screening in Alzheimer's Disease.
International Journal Of Molecular Sciences
Garcia-Leon, Juan Antonio JA; Caceres-Palomo, Laura L; Sanchez-Mejias, Elisabeth E; Mejias-Ortega, Marina M; Nuñez-Diaz, Cristina C; Fernandez-Valenzuela, Juan Jose JJ; Sanchez-Varo, Raquel R; Davila, Jose Carlos JC; Vitorica, Javier J; Gutierrez, Antonia A
Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout.
Brain Communications
Arber, Charles C; Villegas-Llerena, Claudio C; Toombs, Jamie J; Pocock, Jennifer M JM; Ryan, Natalie S NS; Fox, Nick C NC; Zetterberg, Henrik H; Hardy, John J; Wray, Selina S
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
Arber, Charles C; Toombs, Jamie J; Lovejoy, Christopher C; Ryan, Natalie S NS; Paterson, Ross W RW; Willumsen, Nanet N; Gkanatsiou, Eleni E; Portelius, Erik E; Blennow, Kaj K; Heslegrave, Amanda A; Schott, Jonathan M JM; Hardy, John J; Lashley, Tammaryn T; Fox, Nick C NC; Zetterberg, Henrik H; Wray, Selina S
Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.
Oncotarget
Grigorenko, Anastasia P AP; Moliaka, Youri K YK; Plotnikova, Olga V OV; Smirnov, Alexander A; Nikishina, Vera A VA; Goltsov, Andrey Y AY; Gusev, Fedor F; Andreeva, Tatiana V TV; Nelson, Omar O; Bezprozvanny, Ilya I; Rogaev, Evgeny I EI
Publication Date: 2017-10-10
Variant appearance in text: PSEN1: M146I; rs63750391
Plasma Phospholipid and Sphingolipid Alterations in Presenilin1 Mutation Carriers: A Pilot Study.
Journal Of Alzheimer'S Disease : Jad
Chatterjee, Pratishtha P; Lim, Wei L F WL; Shui, Guanghou G; Gupta, Veer B VB; James, Ian I; Fagan, Anne M AM; Xiong, Chengjie C; Sohrabi, Hamid R HR; Taddei, Kevin K; Brown, Belinda M BM; Benzinger, Tammie T; Masters, Colin C; Snowden, Stuart G SG; Wenk, Marcus R MR; Bateman, Randall J RJ; Morris, John C JC; Martins, Ralph N RN
APP metabolism regulates tau proteostasis in human cerebral cortex neurons.
Cell Reports
Moore, Steven S; Evans, Lewis D B LD; Andersson, Therese T; Portelius, Erik E; Smith, James J; Dias, Tatyana B TB; Saurat, Nathalie N; McGlade, Amelia A; Kirwan, Peter P; Blennow, Kaj K; Hardy, John J; Zetterberg, Henrik H; Livesey, Frederick J FJ
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Current Neurology And Neuroscience Reports
Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,