Search Results - "YOUNKIN, Steven G"
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APOE4 exacerbates synapse loss and neurodegeneration in Alzheimer’s disease patient iPSC-derived cerebral organoids
Published in Nature communications (02-11-2020)“…APOE4 is the strongest genetic risk factor associated with late-onset Alzheimer’s disease (AD). To address the underlying mechanism, we develop cerebral…”
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Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci
Published in Nature neuroscience (01-09-2014)“…Aging can lead to cognitive decline associated with neural pathology and Alzheimer's disease (AD). Here the authors scan the methylation status of CpGs across…”
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3
Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight
Published in Genome Biology (20-05-2019)“…The human genome contains "dark" gene regions that cannot be adequately assembled or aligned using standard short-read sequencing technologies, preventing…”
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4
Innate immunity receptor CD36 promotes cerebral amyloid angiopathy
Published in Proceedings of the National Academy of Sciences - PNAS (19-02-2013)“…Deposition of amyloid-β (Aβ) in cerebral arteries, known as cerebral amyloid angiopathy (CAA), occurs both in the setting of Alzheimer's disease and…”
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Human whole genome genotype and transcriptome data for Alzheimer’s and other neurodegenerative diseases
Published in Scientific data (11-10-2016)“…Previous genome-wide association studies (GWAS), conducted by our group and others, have identified loci that harbor risk variants for neurodegenerative…”
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Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases
Published in Alzheimer's & dementia (01-03-2018)“…Comparative transcriptome analyses in Alzheimer's disease (AD) and other neurodegenerative proteinopathies can uncover both shared and distinct disease…”
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Scavenger receptor CD36 is essential for the cerebrovascular oxidative stress and neurovascular dysfunction induced by amyloid-β
Published in Proceedings of the National Academy of Sciences - PNAS (22-03-2011)“…Increasing evidence indicates that cerebrovascular dysfunction plays a pathogenic role in Alzheimer's dementia (AD). Amyloid-β (Aβ), a peptide central to the…”
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Alzheimer's disease and progressive supranuclear palsy share similar transcriptomic changes in distinct brain regions
Published in The Journal of clinical investigation (18-01-2022)“…Vast numbers of differentially expressed genes and perturbed networks have been identified in Alzheimer's disease (AD), however, neither disease nor brain…”
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Uncoupling of endothelial nitric oxide synthase in cerebral vasculature of Tg2576 mice
Published in Journal of neurochemistry (01-09-2015)“…In this study, we tested the hypothesis that reduced bioavailability of tetrahydrobiopterin (BH4) is a major mechanism responsible for pathogenesis of…”
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Environmental Enrichment Mitigates Cognitive Deficits in a Mouse Model of Alzheimer's Disease
Published in The Journal of neuroscience (25-05-2005)“…Epidemiological studies suggest that individuals with greater education or more cognitively demanding occupations have diminished risk of developing dementia…”
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Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study
Published in PloS one (13-07-2017)“…We performed single-variant and gene-based association analyses of plasma amyloid-β (aβ) concentrations using whole exome sequence from 1,414 African and…”
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Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies
Published in PloS one (16-04-2021)“…Genetic studies have shifted to sequencing-based rare variants discovery after decades of success in identifying common disease variants by Genome-Wide…”
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Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience
Published in Genome medicine (29-11-2017)“…While age and the APOE ε4 allele are major risk factors for Alzheimer's disease (AD), a small percentage of individuals with these risk factors exhibit AD…”
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Author Correction: APOE4 exacerbates synapse loss and neurodegeneration in Alzheimer’s disease patient iPSC-derived cerebral organoids
Published in Nature communications (05-05-2021)Get full text
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15
Cholesterol-Dependent γ-Secretase Activity in Buoyant Cholesterol-Rich Membrane Microdomains
Published in Neurobiology of disease (01-02-2002)“…Buoyant membrane fractions containing presenilin 1 (PS1), an essential component of the γ-secretase complex, and APP CTFβ, a γ-secretase substrate, can be…”
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Cerebrovascular autoregulation is profoundly impaired in mice overexpressing amyloid precursor protein
Published in American journal of physiology. Heart and circulatory physiology (01-07-2002)“…The amyloid-beta (A beta) peptide, which is derived from the amyloid precursor protein (APP), is involved in the pathogenesis of Alzheimer's dementia and…”
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Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease
Published in Alzheimer's research & therapy (20-02-2018)“…Simultaneous consideration of two neuropathological traits related to Alzheimer's disease (AD) has not been attempted in a genome-wide association study. We…”
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Linkage of Plasma Aβ42 to a Quantitative Locus on Chromosome 10 in Late-Onset Alzheimer's Disease Pedigrees
Published in Science (American Association for the Advancement of Science) (22-12-2000)“…Plasma Aβ42 (amyloid β42 peptide) is invariably elevated in early-onset familial Alzheimer's disease (AD), and it is also increased in the first-degree…”
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Investigation of 15 of the top candidate genes for late-onset Alzheimer’s disease
Published in Human genetics (01-03-2011)“…The 12 genome-wide association studies (GWAS) published to-date for late-onset Alzheimer’s disease (LOAD) have identified over 40 candidate LOAD risk…”
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The presenilin-1 familial Alzheimer disease mutant P117L impairs neurogenesis in the hippocampus of adult mice
Published in Experimental neurology (01-08-2004)“…The functions of presenilin 1 (PS1) and how PS1 mutations cause familial Alzheimer's disease (FAD) are incompletely understood. PS1 expression is essential for…”
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