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: 2141C>T; Thr714Ile
Unscrambling the Role of Redox-Active Biometals in Dopaminergic Neuronal Death and Promising Metal Chelation-Based Therapy for Parkinson's Disease.
International Journal Of Molecular Sciences
Gonzalez-Alcocer, Alfredo A; Duarte-Jurado, Ana Patricia AP; Soto-Dominguez, Adolfo A; Loera-Arias, Maria de Jesus MJ; Villarreal-Silva, Eliud Enrique EE; Saucedo-Cardenas, Odila O; de Oca-Luna, Roberto Montes RM; Garcia-Garcia, Aracely A; Rodriguez-Rocha, Humberto H
Structural Determinant of β-Amyloid Formation: From Transmembrane Protein Dimerization to β-Amyloid Aggregates.
Biomedicines
Papadopoulos, Nicolas N; Suelves, Nuria N; Perrin, Florian F; Vadukul, Devkee M DM; Vrancx, Céline C; Constantinescu, Stefan N SN; Kienlen-Campard, Pascal P
Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.
Neuronal Network Excitability in Alzheimer's Disease: The Puzzle of Similar versus Divergent Roles of Amyloid β and Tau.
Eneuro
Kazim, Syed Faraz SF; Seo, Joon Ho JH; Bianchi, Riccardo R; Larson, Chloe S CS; Sharma, Abhijeet A; Wong, Robert K S RKS; Gorbachev, Kirill Y KY; Pereira, Ana C AC
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
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
Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.
Journal Of Alzheimer'S Disease : Jad
N'Songo, Aurelie A; Carrasquillo, Minerva M MM; Wang, Xue X; Nguyen, Thuy T; Asmann, Yan Y; Younkin, Steven G SG; Allen, Mariet M; Duara, Ranjan R; Custo, Maria T Greig MT; Graff-Radford, Neill N; Ertekin-Taner, Nilüfer N
Publication Date: 2017
Variant appearance in text: APP: Thr714Ile; rs63750973
Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
Neurology
Conidi, Maria E ME; Bernardi, Livia L; Puccio, Gianfranco G; Smirne, Nicoletta N; Muraca, Maria G MG; Curcio, Sabrina A M SA; Colao, Rosanna R; Piscopo, Paola P; Gallo, Maura M; Anfossi, Maria M; Frangipane, Francesca F; Clodomiro, Alessandra A; Mirabelli, Maria M; Vasso, Franca F; Cupidi, Chiara C; Torchia, Giusi G; Di Lorenzo, Raffaele R; Mandich, Paola P; Confaloni, Annamaria A; Maletta, Raffaele G RG; Bruni, Amalia C AC
Role of Apolipoprotein E in β-Amyloidogenesis: ISOFORM-SPECIFIC EFFECTS ON PROTOFIBRIL TO FIBRIL CONVERSION OF Aβ IN VITRO AND BRAIN Aβ DEPOSITION IN VIVO.
The Journal Of Biological Chemistry
Hori, Yukiko Y; Hashimoto, Tadafumi T; Nomoto, Hidetoshi H; Hyman, Bradley T BT; Iwatsubo, Takeshi T
Abundance of Aβ₅-x like immunoreactivity in transgenic 5XFAD, APP/PS1KI and 3xTG mice, sporadic and familial Alzheimer's disease.
Molecular Neurodegeneration
Guzmán, Erika Avendaño EA; Bouter, Yvonne Y; Richard, Bernhard C BC; Lannfelt, Lars L; Ingelsson, Martin M; Paetau, Anders A; Verkkoniemi-Ahola, Auli A; Wirths, Oliver O; Bayer, Thomas A TA
C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.
American Journal Of Neurodegenerative Disease
Wojtas, Aleksandra A; Heggeli, Kristin A KA; Finch, Nicole N; Baker, Matt M; Dejesus-Hernandez, Mariely M; Younkin, Steven G SG; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Rademakers, Rosa R
Publication Date: 2012
Variant appearance in text: APP: 2141C>T; Thr714Ile