Deletion of SERF2 in mice delays embryonic development and alters amyloid deposit structure in the brain.
Life Science Alliance
Stroo, Esther E; Janssen, Leen L; Sin, Olga O; Hogewerf, Wytse W; Koster, Mirjam M; Harkema, Liesbeth L; Youssef, Sameh A SA; Beschorner, Natalie N; Wolters, Anouk Hg AH; Bakker, Bjorn B; Becker, Lore L; Garrett, Lilian L; Marschall, Susan S; Hoelter, Sabine M SM; Wurst, Wolfgang W; Fuchs, Helmut H; Gailus-Durner, Valerie V; Hrabe de Angelis, Martin M; Thathiah, Amantha A; Foijer, Floris F; van de Sluis, Bart B; van Deursen, Jan J; Jucker, Matthias M; de Bruin, Alain A; Nollen, Ellen Aa EA
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: APP: 2149G>C; Val717Leu
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: APP: 2149G>C; Val717Leu
Branched-Chain Amino Acids Are Linked with Alzheimer's Disease-Related Pathology and Cognitive Deficits.
Cells
Siddik, Md Abu Bakkar MAB; Mullins, Caitlyn A CA; Kramer, Alyssa A; Shah, Harsh H; Gannaban, Ritchel B RB; Zabet-Moghaddam, Masoud M; Huebinger, Ryan M RM; Hegde, Vijay K VK; MohanKumar, Sheba M J SMJ; MohanKumar, Puliyur S PS; Shin, Andrew C AC
Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.
Age-Dependent Alterations of Cognition, Mitochondrial Function, and Beta-Amyloid Deposition in a Murine Model of Alzheimer's Disease-A Longitudinal Study.
Frontiers In Aging Neuroscience
Reutzel, Martina M; Grewal, Rekha R; Joppe, Aljoscha A; Eckert, Gunter P GP
Animal Models of Metabolic Disorders in the Study of Neurodegenerative Diseases: An Overview.
Frontiers In Neuroscience
de Bem, Andreza Fabro AF; Krolow, Rachel R; Farias, Hémelin Resende HR; de Rezende, Victória Linden VL; Gelain, Daniel Pens DP; Moreira, José Cláudio Fonseca JCF; Duarte, João Miguel das Neves JMDN; de Oliveira, Jade J
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
The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.
Plos One
Guyon, Antoine A; Rousseau, Joël J; Lamothe, Gabriel G; Tremblay, Jacques P JP
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
Prominent amyloid plaque pathology and cerebral amyloid angiopathy in APP V717I (London) carrier - phenotypic variability in autosomal dominant Alzheimer's disease.
Acta Neuropathologica Communications
Lloyd, Grace M GM; Trejo-Lopez, Jorge A JA; Xia, Yuxing Y; McFarland, Karen N KN; Lincoln, Sarah J SJ; Ertekin-Taner, Nilüfer N; Giasson, Benoit I BI; Yachnis, Anthony T AT; Prokop, Stefan S
The Alzheimer's Disease Amyloid-Beta Hypothesis in Cardiovascular Aging and Disease: JACC Focus Seminar.
Journal Of The American College Of Cardiology
Stakos, Dimitrios A DA; Stamatelopoulos, Kimon K; Bampatsias, Dimitrios D; Sachse, Marco M; Zormpas, Eleftherios E; Vlachogiannis, Nikolaos I NI; Tual-Chalot, Simon S; Stellos, Konstantinos K
Using human induced pluripotent stem cells (hiPSCs) to investigate the mechanisms by which Apolipoprotein E (APOE) contributes to Alzheimer's disease (AD) risk.
Neurobiology Of Disease
Raman, Sreedevi S; Brookhouser, Nicholas N; Brafman, David A DA
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
Mitophagy inhibits amyloid-β and tau pathology and reverses cognitive deficits in models of Alzheimer's disease.
Nature Neuroscience
Fang, Evandro F EF; Hou, Yujun Y; Palikaras, Konstantinos K; Adriaanse, Bryan A BA; Kerr, Jesse S JS; Yang, Beimeng B; Lautrup, Sofie S; Hasan-Olive, Md Mahdi MM; Caponio, Domenica D; Dan, Xiuli X; Rocktäschel, Paula P; Croteau, Deborah L DL; Akbari, Mansour M; Greig, Nigel H NH; Fladby, Tormod T; Nilsen, Hilde H; Cader, M Zameel MZ; Mattson, Mark P MP; Tavernarakis, Nektarios N; Bohr, Vilhelm A VA
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Neurobiology Of Aging
Blauwendraat, Cornelis C; Pletnikova, Olga O; Geiger, Joshua T JT; Murphy, Natalie A NA; Abramzon, Yevgeniya Y; Rudow, Gay G; Mamais, Adamantios A; Sabir, Marya S MS; Crain, Barbara B; Ahmed, Sarah S; Rosenthal, Liana S LS; Bakker, Catherine C CC; Faghri, Faraz F; Chia, Ruth R; Ding, Jinhui J; Dawson, Ted M TM; Pantelyat, Alexander A; Albert, Marilyn S MS; Nalls, Mike A MA; Resnick, Susan M SM; Ferrucci, Luigi L; Cookson, Mark R MR; Hillis, Argye E AE; Troncoso, Juan C JC; Scholz, Sonja W SW
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Alzheimer'S Research & Therapy
Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM