0000000000891501

AUTHOR

Roger L. Albin

0000-0002-0629-608x

showing 2 related works from this author

Autophagy

2012

Klionsky, Daniel J. et al.

autophagy assays[SDV]Life Sciences [q-bio]AutolysosomeAutophagosome maturationautophagosomeBioinformaticsstressChaperone-mediated autophagyModelsLC3MESH: Animalsguidelinesautolysosome autophagosome flux LC3 lysosome phagophore stress vacuoleSettore BIO/06 - Anatomia Comparata E CitologiaComputingMilieux_MISCELLANEOUSSettore BIO/17Autophagy databaseautolysosome3. Good healthddc:540lysosomeEnergy and redox metabolism Mitochondrial medicine [NCMLS 4]methods [Biological Assay]Biological AssaySettore BIO/17 - ISTOLOGIANeuroniMAP1LC3BHumanautophagygenetics [Autophagy]AutofagiaMESH: Autophagy*/genetics[SDV.BC]Life Sciences [q-bio]/Cellular BiologyAutofagia; Neuroni; istologiaBiologyModels BiologicalLC3; autolysosome; autophagosome; flux; lysosome; phagophore; stress; vacuoleddc:570AutophagyAnimalsHumansAutophagy-Related Protein 7[SDV.BC] Life Sciences [q-bio]/Cellular BiologyBiological Assay/methodsMolecular BiologyBiologyAutophagy; guidelines; autophagy assaysistologiaphagophoreMESH: HumansAnimals; Biological Assay; Humans; Models Biological; AutophagyvacuoleAnimal[ SDV.BC ] Life Sciences [q-bio]/Cellular BiologyMESH: Models BiologicalPathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1]Cell BiologyBiologicalAutophagy/geneticsfluxAutophagosome membraneAutophagy Protein 5Human medicineMESH: Biological Assay/methods*Neuroscienceautolysosome; autophagosome; flux; LC3; lysosome; phagophore; stress; vacuoleAutophagy
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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

2017

International audience; 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 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10-10, odds ratio (OR) = 0.68…

0301 basic medicineLinkage disequilibrium[SDV]Life Sciences [q-bio]MedizinSequence HomologyGenome-wide association studygenetics [Alzheimer Disease]metabolism [Microglia]Linkage Disequilibrium0302 clinical medicinegenetics [Protein Interaction Maps]genetics [Membrane Glycoproteins]Gene FrequencyImmunologicgenetics [Adaptor Proteins Signal Transducing]Receptorsgenetics [Exome]Odds RatioInnategenetics [Receptors Immunologic]ExomeProtein Interaction Mapsgenetics [Genetic Predisposition to Disease]Receptors ImmunologicABI3 protein humanGeneticsAdaptor Proteins Signal Transducing; Alzheimer Disease; Amino Acid Sequence; Case-Control Studies; Exome; Gene Expression Profiling; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Immunity Innate; Linkage Disequilibrium; Membrane Glycoproteins; Microglia; Odds Ratio; Phospholipase C gamma; Protein Interaction Maps; Receptors Immunologic; Sequence Homology Amino Acid; Polymorphism Single Nucleotide; GeneticsMembrane GlycoproteinsAdaptor ProteinsSingle NucleotideAdaptor Proteins Signal Transducing; Alzheimer Disease; Amino Acid Sequence; Case-Control Studies; Exome; Gene Expression Profiling; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Immunity Innate; Linkage Disequilibrium; Membrane Glycoproteins; Microglia; Odds Ratio; Phospholipase C gamma; Protein Interaction Maps; Receptors Immunologic; Sequence Homology Amino Acid; Polymorphism Single Nucleotide3. Good health[SDV] Life Sciences [q-bio]Amino AcidSettore MED/26 - NEUROLOGIAgenetics [Phospholipase C gamma][SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]MicrogliaAlzheimer's diseaseCommon disease-common variantGenotypeBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesAlzheimer Diseaseddc:570medicineJournal ArticleGeneticsHumansGenetic Predisposition to Disease[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Amino Acid SequencePolymorphismAllele frequencyAdaptor Proteins Signal TransducingTREM2 protein humanSequence Homology Amino AcidTREM2Phospholipase C gammaGene Expression ProfilingCase-control studySignal TransducingImmunitymedicine.diseaseR1Immunity InnateMinor allele frequencygenetics [Immunity Innate]030104 developmental biologyCase-Control StudiesHuman medicine030217 neurology & neurosurgery
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