Explanipedia

Cerebrospinal fluid proteomic associations of <i>APOE</i> genotypes reveal distinct protective and risk mechanisms for Alzheimer's disease Open

Eleonora M. Vromen, Senne B. Lageman, Johan Gobom, Rik van der Kant, Valerija Dobričić , et al. · 2025

BACKGROUND The apolipoprotein E ( APOE ) gene includes the strongest protective (ε2) and risk (ε4) variants for sporadic Alzheimer's disease (AD), but underlying mechanisms remain unclear. We studied APOE genotype effects on the cerebrospi…

Synaptic protein CSF levels relate to memory scores in individuals without dementia Open

Kirsten E. J. Wesenhagen, Diederick Martijn de Leeuw, Jori Tomassen, Johan Gobom, Isabelle Bos , et al. · 2025

Cerebrospinal fluid proteomic profiling of cognitively unimpaired individuals with suspected non-Alzheimer's disease pathophysiology Open

Aurore Delvenne, Johan Gobom, Lianne M. Reus, Valerija Dobričić, Mara ten Kate , et al. · 2025

Suspected non-Alzheimer's disease pathophysiology (SNAP) is a biomarker-based concept describing individuals with abnormal tau and/or neurodegeneration markers but normal amyloid levels. SNAP is common in individuals with normal cognition …

Changes in iPSC-astrocyte morphology reflect Alzheimer’s disease patient clinical markers Open

Helen Rowland, Georgina Miller, Qiang Liu, Shuhan Li, Nicola R Sharp , et al. · 2024

Human induced pluripotent stem cells (iPSCs) provide powerful cellular models of Alzheimer’s disease (AD) and offer many advantages over non-human models, including the potential to reflect variation in individual-specific pathophysiology …

Extra-axial inflammatory signal and its relationship to peripheral and central immunity in depression Open

Brandi Eiff, Edward T. Bullmore, Menna R. Clatworthy, Tim D. Fryer, Carmine M. Pariante , et al. · 2024

Although both central and peripheral inflammation have been observed consistently in depression, the relationship between the two remains obscure. Extra-axial immune cells may play a role in mediating the connection between central and per…

Blood‐based multivariate methylation risk score for cognitive impairment and dementia Open

J.C. Koetsier, Rachel Cavill, Rick A. Reijnders, Joshua Harvey, Jan Homann , et al. · 2024

INTRODUCTION The established link between DNA methylation and pathophysiology of dementia, along with its potential role as a molecular mediator of lifestyle and environmental influences, positions blood‐derived DNA methylation as a promis…

Synaptic protein CSF levels relate to memory scores in individuals without dementia Open

Kirsten E. J. Wesenhagen, Diederick Martijn de Leeuw, Jori Tomassen, Johan Gobom, Isabelle Bos , et al. · 2024

Involvement of the choroid plexus in Alzheimer’s disease pathophysiology: findings from mouse and human proteomic studies Open

Aurore Delvenne, Charysse Vandendriessche, Johan Gobom, Marlies Burgelman, Pieter Dujardin , et al. · 2024

CSF proteomic profiles of neurodegeneration biomarkers in Alzheimer's disease Open

Aurore Delvenne, Johan Gobom, Suzanne E. Schindler, Mara ten Kate, Lianne M. Reus , et al. · 2024

INTRODUCTION We aimed to unravel the underlying pathophysiology of the neurodegeneration (N) markers neurogranin (Ng), neurofilament light (NfL), and hippocampal volume (HCV), in Alzheimer's disease (AD) using cerebrospinal fluid (CSF) pro…

Paired plasma lipidomics and proteomics analysis in the conversion from mild cognitive impairment to Alzheimer's disease Open

Alicia Gómez-Pascual, Talel Naccache, Jin Xu, Kourosh Hooshmand, Asger Wretlind , et al. · 2024

Blood proteomics to identify AD CSF molecular subtypes Open

Betty M. Tijms, Charlotte E. Teunissen, Johan Gobom, Liu Shi, Henrik Zetterberg , et al. · 2023

Background We identified three distinct molecular subtypes in Alzheimer’s disease (AD) using cerebrospinal fluid (CSF) proteomics: one subtype was characterised by neuronal hyperplasticity with increased amyloid metabolism, the second subt…

Blood DNA methylomic signatures associated with CSF biomarkers of Alzheimer’s disease in the EMIF‐AD Multimodal Biomarker Discovery study Open

Rebecca G. Smith, Jennifer Imm, Valerija Dobričić, Yasmine Sommerer, Isabelle Bos , et al. · 2023

Background The aim of this study was to identify DNA methylation signatures that were associated with 15 CSF biomarker measures of Alzheimer’s disease (AD) or neurodegeneration. Method We profiled DNA methylation in 886 blood samples from …

Characterization of APOE Christchurch carriers in 455,306 UK Biobank participants Open

Karen He, Ekaterina Khramtsova, Alfredo Cabrera‐Socorro, Yanfei Zhang, Shuwei Li , et al. · 2023

Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning Open

Alexander Neumann, Olena Ohlei, Fahri Küçükali, Isabelle Bos, Jigyasha Timsina , et al. · 2023

Blood-based multivariate methylation risk score for cognitive impairment and dementia Open

J.C. Koetsier, Rachel Cavill, Rick A. Reijnders, Joshua Harvey, Kay Deckers , et al. · 2023

INTRODUCTION Given the established association between DNA methylation and the pathophysiology of dementia and its plausible role as a molecular mediator of lifestyle and environment, blood-derived DNA methylation data could enable early d…

iPSC-Astrocyte morphology reflects patient clinical markers Open

Helen Rowland, Georgina Miller, Qiang Liu, Nicola R Sharp, Bryan Ng , et al. · 2023

Human iPSCs provide powerful cellular models of Alzheimer’s disease (AD) and offer many advantages over non-human models, including the potential to reflect variation in individual-specific pathophysiology and clinical symptoms Previous st…

IPSC‐derived neurons with amyloid‐β treatment reflect features of Alzheimer’s disease patients Open

Liu Shi, Helen Rowland, Elena M. Ribé, Ivan Koychev, Alejo Nevado‐Holgado , et al. · 2023

Background There is increasing evidence showing that induced pluripotent stem cells (iPSC)‐derived brain cells recapitulate disease‐relevant processes in patients with Alzheimer’s disease (AD). However, it remains unclear to what extent iP…

Multiomics machine learning identifies inflammation molecular pathways in prodromal Alzheimer’s Disease Open

Alicia Gómez-Pascual, Talel Naccache, Jin Xu, Kourosh Hooshmand, Asger Wretlind , et al. · 2023

Mild Cognitive Impairment (MCI) is a phase that can precede Alzheimer’s Disease (AD). To better understand the molecular mechanisms underlying conversion from MCI to AD, we applied a battery of machine learning algorithms on 800 samples fr…

Multiomics profiling of human plasma and cerebrospinal fluid reveals ATN‐derived networks and highlights causal links in Alzheimer's disease Open

Liu Shi, Jin Xu, Rebecca Green, Asger Wretlind, Jan Homann , et al. · 2023

Introduction This study employed an integrative system and causal inference approach to explore molecular signatures in blood and CSF, the amyloid/tau/neurodegeneration [AT(N)] framework, mild cognitive impairment (MCI) conversion to Alzhe…

Additional file 1 of Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning Open

Alexander Neumann, Olena Ohlei, Fahri Küçükali, Isabelle Bos, Jigyasha Timsina , et al. · 2023

Additional file 1: Table S1. Participant Characteristics CSF Biomarker Sample. Table S2. Participant Characteristics GWAS Discovery Sample. Table S3. Participant Characteristics GWAS Replication Sample. Table S4. Local heritability and var…

Identification of a possible proteomic biomarker in Parkinson’s disease: discovery and replication in blood, brain and cerebrospinal fluid Open

Laura Winchester, Imelda Barber, Michael Lawton, Jessica A. Ash, Benjamine Liu , et al. · 2022

Biomarkers to aid diagnosis and delineate the progression of Parkinson’s disease are vital for targeting treatment in the early phases of the disease. Here, we aim to discover a multi-protein panel representative of Parkinson’s and make me…

Predicting progression to Alzheimer’s disease with human hippocampal progenitors exposed to serum Open

Aleksandra Maruszak, Edina Silajdžić, Hyun-Ah Lee, Tytus Murphy, Benjamine Liu , et al. · 2022

Adult hippocampal neurogenesis is important for learning and memory and is altered early in Alzheimer’s disease. As hippocampal neurogenesis is modulated by the circulatory systemic environment, evaluating a proxy of how hippocampal neurog…

Characterization of<i>APOE</i>Christchurch carriers in 455,306 UK Biobank participants Open

Karen He, Ekaterina Khramtsova, Alfredo Cabrera‐Socorro, Yanfei Zhang, Shuwei Li , et al. · 2022

Importance A few case studies have reported the APOE Christchurch (APOECh) variant to confer protective effects for Alzheimer’s disease (AD) and a higher risk of premature cardiovascular disease (CVD). However, these studies primarily focu…

Whole‐exome rare‐variant analysis of Alzheimer's disease and related biomarker traits Open

Fahri Küçükali, Alexander Neumann, Jasper Van Dongen, Tim De Pooter, Geert Joris , et al. · 2022

Introduction Despite increasing evidence of a role of rare genetic variation in the risk of Alzheimer's disease (AD), limited attention has been paid to its contribution to AD‐related biomarker traits indicative of AD‐relevant pathophysiol…

Predicting AT(N) pathologies in Alzheimer’s disease from blood-based proteomic data using neural networks Open

Yuting Zhang, Upamanyu Ghose, Noel J. Buckley, Sebastiaan Engelborghs, Kristel Sleegers , et al. · 2022

Background and objective Blood-based biomarkers represent a promising approach to help identify early Alzheimer’s disease (AD). Previous research has applied traditional machine learning (ML) to analyze plasma omics data and search for pot…

Glycosylated clusterin species facilitate Aβ toxicity in human neurons Open

Evangeline M. Foster, Marco Fernandes, Adrià Dangla-Valls, Philip Hublitz, Menelaos Pangalos , et al. · 2022

Clusterin ( CLU ) is one of the most significant genetic risk factors for late onset Alzheimer’s disease (AD). However, the mechanisms by which CLU contributes to AD development and pathogenesis remain unclear. Studies have demonstrated th…

Neurons derived from individual early Alzheimer’s disease patients reflect their clinical vulnerability Open

Bryan Ng, Helen Rowland, Liting Wei, Kanisa Arunasalam, Emma Mee Hayes , et al. · 2022

Establishing preclinical models of Alzheimer’s disease that predict clinical outcomes remains a critically important, yet to date not fully realized, goal. Models derived from human cells offer considerable advantages over non-human models…

Multiomics profiling of human plasma and CSF reveals ATN derived networks and highlights causal links in Alzheimer’s disease Open

Liu Shi, Jin Xu, Rebecca Green, Asger Wretlind, Jan Homann , et al. · 2022

INTRODUCTION This study employed an integrative system and causal inference approach to explore molecular signatures in blood and CSF, the Amyloid/Tau/Neurodegeneration [AT(N)] framework, MCI conversion to AD, and genetic risk for AD. METH…

Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning Open

Alexander Neumann, Olena Ohlei, Fahri Küçükali, Isabelle Bos, Stephanie J. B. Vos , et al. · 2022

Genome-wide association studies (GWAS) of Alzheimer’s disease (AD) have identified several risk loci, but many remain unknown. Cerebrospinal fluid (CSF) biomarkers may aid in gene discovery and we previously demonstrated that six CSF bioma…

Cerebrospinal fluid proteomic profiling of individuals with mild cognitive impairment and suspected non‐Alzheimer's disease pathophysiology Open

Aurore Delvenne, Johan Gobom, Betty M. Tijms, Isabelle Bos, Lianne M. Reus , et al. · 2022

Background Suspected non‐Alzheimer's disease pathophysiology (SNAP) is a biomarker concept that encompasses individuals with neuronal injury but without amyloidosis. We aim to investigate the pathophysiology of SNAP, defined as abnormal ta…

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