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View article: Intracellular accumulation of amyloid-ß is a marker of selective neuronal vulnerability in Alzheimer’s disease
Intracellular accumulation of amyloid-ß is a marker of selective neuronal vulnerability in Alzheimer’s disease Open
View article: Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes
Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes Open
Gene expression quantitative trait loci are widely used to infer relationships between genes and central nervous system (CNS) phenotypes; however, the effect of brain disease on these inferences is unclear. Using 2,348,438 single-nuclei pr…
View article: Further validation of the association between MAPT haplotype-tagging polymorphisms and Alzheimer’s disease: neuropsychological tests, cerebrospinal fluid biomarkers, and APOE genotype
Further validation of the association between MAPT haplotype-tagging polymorphisms and Alzheimer’s disease: neuropsychological tests, cerebrospinal fluid biomarkers, and APOE genotype Open
Introduction Genetic studies have shown that variants in the microtubule-associated protein tau ( MAPT ) gene, which encodes tau protein, can increase the risk for Alzheimer’s disease (AD). Additionally, two haplotypes of the MAPT gene (H1…
View article: Integrative multi-omics reveal glial signatures associated with accelerated cognitive decline in Alzheimer’s disease
Integrative multi-omics reveal glial signatures associated with accelerated cognitive decline in Alzheimer’s disease Open
Alzheimer’s disease (AD) is a neurodegenerative disorder characterised by progressive cognitive decline and memory loss caused by both genetic and environmental factors. Synapse dysfunction and loss are strongly related to cognitive declin…
View article: Characterisation of premature cell senescence in Alzheimer’s disease using single nuclear transcriptomics
Characterisation of premature cell senescence in Alzheimer’s disease using single nuclear transcriptomics Open
Aging is associated with cell senescence and is the major risk factor for AD. We characterized premature cell senescence in postmortem brains from non-diseased controls (NDC) and donors with Alzheimer’s disease (AD) using imaging mass cyto…
View article: A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer’s disease
A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer’s disease Open
View article: Mass spectrometry imaging highlights dynamic patterns of lipid co‐expression with Aβ plaques in mouse and human brains
Mass spectrometry imaging highlights dynamic patterns of lipid co‐expression with Aβ plaques in mouse and human brains Open
Lipids play crucial roles in the susceptibility and brain cellular responses to Alzheimer's disease (AD) and are increasingly considered potential soluble biomarkers in cerebrospinal fluid (CSF) and plasma. To delineate the pathological co…
View article: Single‐nuclei RNA sequencing provides evidence for glial senescence in Alzheimer’s disease
Single‐nuclei RNA sequencing provides evidence for glial senescence in Alzheimer’s disease Open
Background Ageing is the greatest risk factor for Alzheimer’s disease (AD). While accumulation of senescent cells is one of the major hallmarks of ageing, the effect of the senescence burden is yet to be explored in AD. The aims of this st…
View article: Glial and neuronal mechanisms contributing to differential risks in TREM2 R47H and R62H variants in Alzheimer’s Disease
Glial and neuronal mechanisms contributing to differential risks in TREM2 R47H and R62H variants in Alzheimer’s Disease Open
Background Coding variants in the microglial TREM2 ectodomain differentially (R47H> R62H) increase the risk of Alzheimer’s disease (AD). To define mechanisms responsible in glia and neurons, we aimed to characterise neuropathology and tran…
View article: Atypical presentations of autosomal dominant familial Alzheimer’s disease: insights into genetic, neuropathological and clinical heterogeneity
Atypical presentations of autosomal dominant familial Alzheimer’s disease: insights into genetic, neuropathological and clinical heterogeneity Open
Background Autosomal dominant familial Alzheimer’s disease (ADAD), caused by APP, PSEN1 and PSEN2 mutations, is clinically and pathologically similar to sporadic AD, with both typically presenting with memory impairment. However as in spor…
View article: Signalling pathways associated with impaired angiogenesis in Alzheimer’s Disease
Signalling pathways associated with impaired angiogenesis in Alzheimer’s Disease Open
Background Brain perfusion and blood brain barrier (BBB) integrity are reduced in Alzheimer’s disease (AD). We hypothesized that b‐amyloid (Aβ) induces dysfunction of pathways in vascular cells that regulate angiogenesis. Method We perform…
View article: Omix: A Multi-Omics Integration Pipeline
Omix: A Multi-Omics Integration Pipeline Open
Summary The Omix pipeline offers an integration and analysis framework for multiomics intended to preprocess, analyse, and visualise multimodal data flexibly to address various research questions. From biomarker discovery and patient strat…
View article: The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue
The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue Open
Mutations in the presenilin 1 gene, PSEN1, which cause familial Alzheimer’s disease alter the processing of amyloid precursor protein, leading to the generation of various amyloid-β peptide species. These species differ in their potential …
View article: Mechanisms contributing to differential genetic risks for <i>TREM2 R47H</i> and <i>R62H</i> variants in Alzheimer’s Disease
Mechanisms contributing to differential genetic risks for <i>TREM2 R47H</i> and <i>R62H</i> variants in Alzheimer’s Disease Open
SUMMARY Coding variants in the microglial TREM2 ectodomain differentially ( R47H > R62H ) increase the risk of Alzheimer’s disease (AD). To define mechanisms responsible, we characterised neuropathology and transcriptomic responses in hete…
View article: Single nuclear transcriptional signatures of dysfunctional brain vascular homeostasis in Alzheimer’s disease
Single nuclear transcriptional signatures of dysfunctional brain vascular homeostasis in Alzheimer’s disease Open
Brain perfusion and normal blood brain barrier integrity are reduced early in Alzheimer’s disease (AD). We performed single nucleus RNA sequencing of vascular cells isolated from AD and control brains to characterise pathological transcrip…
View article: Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer’s disease
Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer’s disease Open
Familial Alzheimer's disease (FAD) is caused by autosomal dominant mutations in the PSEN1 , PSEN2 or APP genes, giving rise to considerable clinical and pathological heterogeneity in FAD. Here we investigate variability in clinical data an…
View article: Plasma amyloid-β ratios in autosomal dominant Alzheimer’s disease: the influence of genotype
Plasma amyloid-β ratios in autosomal dominant Alzheimer’s disease: the influence of genotype Open
In vitro studies of autosomal dominant Alzheimer’s disease implicate longer amyloid-β peptides in disease pathogenesis; however, less is known about the behaviour of these mutations in vivo. In this cross-sectional cohort study, we used li…
View article: Familial Alzheimer’s Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis
Familial Alzheimer’s Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis Open
View article: Premature neuronal differentiation in familial Alzheimer’s disease human stem cells in vitro and in postmortem brain tissue
Premature neuronal differentiation in familial Alzheimer’s disease human stem cells in vitro and in postmortem brain tissue Open
Background Familial Alzheimer’s disease (fAD) is caused by mutations in PSEN1 , PSEN2 and APP . PSEN1forms the catalytic core of g‐secretase, a membrane protease which cleaves numerous substrates including APP and Notch. We have previously…
View article: O1‐03‐04: CORTICAL NEURONS AND CEREBRAL ORGANOIDS FROM APP AND PSEN1 MUTATION CARRIERS REVEAL MUTATION‐SPECIFIC EFFECTS ON Aβ PRODUCTION
O1‐03‐04: CORTICAL NEURONS AND CEREBRAL ORGANOIDS FROM APP AND PSEN1 MUTATION CARRIERS REVEAL MUTATION‐SPECIFIC EFFECTS ON Aβ PRODUCTION Open
Familial Alzheimer's disease (fAD) mutations alter amyloid precursor protein (APP) cleavage by γ- secretase, increasing the proportion of longer amyloidogenic amyloid-β (Aβ) peptides. There is substantial clinical and pathological heteroge…
View article: O2‐08‐04: PHENOTYPIC HETEROGENEITY IN FAMILIAL ALZHEIMER'S DISEASE AND ASSOCIATIONS WITH CEREBRAL AMYLOID ANGIOPATHY
O2‐08‐04: PHENOTYPIC HETEROGENEITY IN FAMILIAL ALZHEIMER'S DISEASE AND ASSOCIATIONS WITH CEREBRAL AMYLOID ANGIOPATHY Open
The neuropathological substrate of clinical heterogeneity in Alzheimer's disease (AD) is not well understood, nor is the role of cerebral amyloid angiopathy (CAA) in the disease process. We investigated whether CAA is related to genotypic …
View article: Familial Alzheimer’s disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta
Familial Alzheimer’s disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta Open
Familial Alzheimer's disease (fAD) mutations alter amyloid precursor protein (APP) cleavage by γ-secretase, increasing the proportion of longer amyloidogenic amyloid-β (Aβ) peptides. Using five control induced pluripotent stem cell (iPSC) …
View article: Association of<i>MAPT</i>haplotype‐tagging polymorphisms with cerebrospinal fluid biomarkers of Alzheimer's disease: A preliminary study in a Croatian cohort
Association of<i>MAPT</i>haplotype‐tagging polymorphisms with cerebrospinal fluid biomarkers of Alzheimer's disease: A preliminary study in a Croatian cohort Open
Introduction Alzheimer's disease (AD) is the world leading cause of dementia. Early detection of AD is essential for faster and more efficacious usage of therapeutics and preventive measures. Even though it is well known that one ε4 allele…
View article: [P1–219]: PROBING DEVELOPMENTAL CONSEQUENCES OF PSEN1 MUTATIONS IN IPSC DIFFERENTIATION IN 2D AND 3D
[P1–219]: PROBING DEVELOPMENTAL CONSEQUENCES OF PSEN1 MUTATIONS IN IPSC DIFFERENTIATION IN 2D AND 3D Open
Mutations in the gamma secretase subunits Presenilin 1/2 (PSEN1 and PSEN2) lead to familial Alzheimer's disease (fAD). In addition to cleavage of amyloid precursor protein (APP), gamma secretase cleaves Notch and other transmembrane protei…