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1. Full Text Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease
by Sassi, Celeste and Ridge, Perry G and Nalls, Michael A and Gibbs, Raphael and Ding, Jinhui and Lupton, Michelle K and Troakes, Claire and Lunnon, Katie and Al-Sarraj, Safa and Brown, Kristelle S and Medway, Christopher and Lord, Jenny and Turton, James and Morgan, Kevin and Powell, John F and Kauwe, John S and Cruchaga, Carlos and Bras, Jose and Goate, Alison M and Singleton, Andrew B and Guerreiro, Rita and Hardy, John and ARUK Consortium
PLOS ONE, ISSN 1932-6203, 06/2016, Volume 11, Issue 6, p. e0150079
The cerebral deposition of Aβ42, a neurotoxic proteolytic derivate of amyloid precursor protein (APP), is a central event in Alzheimer’s disease (AD)(Amyloid... 
Elderly people | Neurosciences | Disease | Laboratories | Pathogenesis | Variability | Genes | Trafficking | Association analysis | Biology | Genomes | Protein turnover | Gene sequencing | Degradation | Proteins | Consortia | Neurotoxicity | Coding | Etiology | Proteolysis | DNA methylation | Aging | Genetics | Life sciences | Alzheimer's disease | Statistical analysis | Neurodegenerative diseases | Metabolism | Amyloid precursor protein | Neurology | Hypoxia | Mutation | Psychiatry | Elderly | Geriatrics
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2. Full Text Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
by Sims, Rebecca and van der Lee, Sven J and Naj, Adam C and Bellenguez, Céline and Badarinarayan, Nandini and Jakobsdottir, Johanna and Kunkle, Brian W and Boland, Anne and Raybould, Rachel and Bis, Joshua C and Martin, Eden R and Grenier-Boley, Benjamin and Heilmann-Heimbach, Stefanie and Chouraki, Vincent and Kuzma, Amanda B and Sleegers, Kristel and Vronskaya, Maria and Ruiz, Agustin and Graham, Robert R and Olaso, Robert and Hoffmann, Per and Grove, Megan L and Vardarajan, Badri N and Hiltunen, Mikko and Nöthen, Markus M and White, Charles C and Hamilton-Nelson, Kara L and Epelbaum, Jacques and Maier, Wolfgang and Choi, Seung-Hoan and Beecham, Gary W and Dulary, Cécile and Herms, Stefan and Smith, Albert V and Funk, Cory C and Derbois, Céline and Forstner, Andreas J and Ahmad, Shahzad and Li, Hongdong and Bacq, Delphine and Harold, Denise and Satizabal, Claudia L and Valladares, Otto and Squassina, Alessio and Thomas, Rhodri and Brody, Jennifer A and Qu, Liming and Sánchez-Juan, Pascual and Morgan, Taniesha and Wolters, Frank J and Zhao, Yi and Garcia, Florentino Sanchez and Denning, Nicola and Fornage, Myriam and Malamon, John and Naranjo, Maria Candida Deniz and Majounie, Elisa and Mosley, Thomas H and Dombroski, Beth and Wallon, David and Lupton, Michelle K and Dupuis, Josée and Whitehead, Patrice and Fratiglioni, Laura and Medway, Christopher and Jian, Xueqiu and Mukherjee, Shubhabrata and Keller, Lina and Brown, Kristelle and Lin, Honghuang and Cantwell, Laura B and Panza, Francesco and McGuinness, Bernadette and Moreno-Grau, Sonia and Burgess, Jeremy D and Solfrizzi, Vincenzo and Proitsi, Petra and Adams, Hieab H and Allen, Mariet and Seripa, Davide and Pastor, Pau and Cupples, L Adrienne and Price, Nathan D and Hannequin, Didier and Frank-García, Ana and Levy, Daniel and Chakrabarty, Paramita and Caffarra, Paolo and Giegling, Ina and Beiser, Alexa S and Giedraitis, Vilmantas and Hampel, Harald and Garcia, Melissa E and Wang, Xue and Lannfelt, Lars and Mecocci, Patrizia and Eiriksdottir, Gudny and Crane, Paul K and Pasquier, Florence and Boccardi, Virginia and ... and Medicinska fakulteten and Geriatrik and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för folkhälso- och vårdvetenskap
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 9, p. 1373
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174... 
Amino Acid Sequence | Genetic Predisposition to Disease | GERAD/PERADES, CHARGE, ADGC, EADI | ARUK Consortium | Humans | Gene Frequency | Genotype | Gene Expression Profiling | Alzheimer Disease | Immunity, Innate | Case-Control Studies | Microglia | Linkage Disequilibrium | Protein Interaction Maps | Sequence Homology, Amino Acid | Exome | Adaptor Proteins, Signal Transducing | Phospholipase C gamma | Receptors, Immunologic | Polymorphism, Single Nucleotide | Membrane Glycoproteins | Odds Ratio | Genetik | Biological Sciences | Genetics | Naturvetenskap | Natural Sciences | Biologiska vetenskaper
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