Explanipedia

Proteogenomics in cerebrospinal fluid and plasma reveals new biological fingerprint of cerebral small vessel disease Open

Shinichi Namba, Masashi Fujita, Marie-Gabrielle Duperron, Masaru Koido, Marziehsadat Ahmadi , et al. · 2025

Cerebral small vessel disease (cSVD) is a leading cause of stroke and dementia with no specific treatment, of which molecular mechanisms remain poorly understood. To identify potential biomarkers and therapeutic targets, we applied Mendeli…

Quantitative MRI of the hippocampus reveals microstructural trajectories of aging and Alzheimer’s disease pathology Open

Alfie Wearn, Ilana R. Leppert, Giulia Baracchini, Colleen Hughes, Jennifer Tremblay‐Mercier , et al. · 2025

Hippocampal degeneration is a feature of both normal aging and Alzheimer’s disease (AD). Prior to macroscopic degeneration, microstructural changes occur such as demyelination, iron deposition, or subtle atrophy, which can be characterized…

Quantitative 1H-NMR spectroscopy identifies metabolites and lipoprotein subclasses associated with intermediate phenotypes of chronic diseases in the Japanese Nagahama Study Open

Huiting Ou, Shuji Kawaguchi, François Brial, Kazuhiro Sonomura, Takahisa Kawaguchi , et al. · 2025

Transcriptomic profiling of severe and critical COVID-19 patients reveals alterations in expression, splicing and polyadenylation Open

Marjorie Labrecque, Elsa Brunet‐Ratnasingham, Laura K. Hamilton, Daniel Auld, Alexandre Montpetit , et al. · 2025

Biobanque québécoise de la COVID-19 (BQC19), a COVID-19 biobank to support Canadian health research Open

Mehrnoosh Doroudchi, Simon Rousseau, Daniel Auld, Julie Bérubé, Guillaume Bourque , et al. · 2025

PTPRS is a novel marker for early tau pathology and synaptic integrity in Alzheimer’s disease Open

Alexandre Poirier, Cynthia Picard, Anne Labonté, Isabelle Aubry, Daniel Auld , et al. · 2024

Background Synaptic dysfunction is a central pathologic feature of Alzheimer’s disease (AD), with synaptic loss even preceding neuronal loss in specific brain regions. In healthy individuals, synaptic function and plasticity are orchestrat…

Stimulation of insulin secretion induced by low 4-cresol dose involves the RPS6KA3 signalling pathway Open

François Brial, Guillaume Puel, Laurine Gonzalez, Jules Russick, Daniel Auld , et al. · 2024

4-cresol (4-methylphenol, p-cresol) is a xenobiotic substance negatively correlated with type 2 diabetes and associated with health improvement in preclinical models of diabetes. We aimed at refining our understanding of the physiological …

Proteogenomics in cerebrospinal fluid and plasma reveals new biological fingerprint of cerebral small vessel disease Open

Stéphanie Debette, Ilana Caro, Daniel Western, Shinichi Namba, Na Sun , et al. · 2024

Cerebral small vessel disease (cSVD) is a leading cause of stroke and dementia with no specific mechanism-based treatment. We used Mendelian randomization to combine a unique cerebrospinal fluid (CSF) and plasma pQTL resource with the late…

PTPRS is a novel marker for early Tau pathology and synaptic integrity in Alzheimer’s disease Open

Alexandre Poirier, Cynthia Picard, Anne Labonté, Isabelle Aubry, Daniel Auld , et al. · 2024

PTPRS is a novel marker for early tau pathology and synaptic integrity in Alzheimer’s disease Open

Alexandre Poirier, Cynthia Picard, Anne Labonté, Isabelle Aubry, Daniel Auld , et al. · 2024

We examined the role of protein tyrosine phosphatase receptor sigma (PTPRS) in the context of Alzheimer’s disease and synaptic integrity. Publicly available datasets (BRAINEAC, ROSMAP, ADC1) and a cohort of asymptomatic but “at risk” indiv…

Longer sleep duration and neuroinflammation in at-risk elderly with a parental history of Alzheimer’s disease Open

Andrée‐Ann Baril, Cynthia Picard, Anne Labonté, Erlan Sanchez, Catherine Duclos , et al. · 2024

Study Objectives Although short sleep could promote neurodegeneration, long sleep may be a marker of ongoing neurodegeneration, potentially as a result of neuroinflammation. The objective was to evaluate sleep patterns with age of expected…

A first update on mapping the human genetic architecture of COVID-19 Open

Gita A. Pathak, Juha Karjalainen, Christine Stevens, Benjamin M. Neale, Mark J. Daly , et al. · 2022

Association of a Total Cholesterol Polygenic Score with Cholesterol Levels and Pathological Biomarkers across the Alzheimer’s Disease Spectrum Open

Nathalie Nilsson, Cynthia Picard, Anne Labonté, Theresa Köbe, Pierre‐François Meyer , et al. · 2021

Midlife hypercholesterolemia is a well-known risk factor for sporadic Alzheimer’s disease (AD), and like AD, it is highly influenced by genetics with heritability estimates of 32–63%. We thus hypothesized that genetics underlying periphera…

Apolipoprotein B is a novel marker for early tau pathology in Alzheimer's disease Open

Cynthia Picard, Nathalie Nilsson, Anne Labonté, Daniel Auld, Pedro Rosa‐Neto , et al. · 2021

Introduction We examine the role of brain apolipoprotein B (apoB) as a putative marker of early tau pathology and cognitive decline. Methods Cerebrospinal fluid (CSF) samples from cognitively normal and Alzheimer's disease (AD) participant…

The Biobanque québécoise de la COVID-19 (BQC19)—A cohort to prospectively study the clinical and biological determinants of COVID-19 clinical trajectories Open

Natàlia Blay, Simon Rousseau, Ma’n H. Zawati, Daniel Auld, Michaël Chassé , et al. · 2021

SARS-CoV-2 infection causing the novel coronavirus disease 2019 (COVID–19) has been responsible for more than 2.8 million deaths and nearly 125 million infections worldwide as of March 2021. In March 2020, the World Health Organization det…

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report Open

Raziyeh Khalesi, Ehsan Razmara, Golareh Asgaritarghi, Ali Reza Tavasoli, Yasser Riazalhosseini , et al. · 2021

Background The present study aimed to determine the underlying genetic factors causing the possible Warburg micro syndrome (WARBM) phenotype in two Iranian patients. Case presentation A 5-year-old female and a 4.5-year-old male were referr…

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability Open

Sepideh Mehvari, Farzaneh Larti, Hao Hu, Zohreh Fattahi, Maryam Beheshtian , et al. · 2020

Background The X chromosome has historically been one of the most thoroughly investigated chromosomes regarding intellectual disability (ID), whose etiology is attributed to many factors including copy number variations (CNVs). Duplication…

Proprotein convertase subtilisin/kexin type 9 (PCSK9) in Alzheimer’s disease: A genetic and proteomic multi-cohort study Open

Cynthia Picard, Alexandre Poirier, Stéphanie A.H. Bélanger, Anne Labonté, Daniel Auld , et al. · 2019

PCSK9 levels differ between control and AD brains and its protein levels correlate with those of other lipoproteins and AD biomarkers even before the onset of the disease. PCSK9 regulation seems to be under tight genetic control in females…

Open science precision medicine in Canada: Points to consider Open

Palmira Granados Moreno, Sarah E. Ali‐Khan, Benjamin Capps, Timothy Caulfield, Damien Chalaud , et al. · 2019

Open science can significantly influence the development and translational process of precision medicine in Canada. Precision medicine presents a unique opportunity to improve disease prevention and healthcare, as well as to reduce health-…

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons Open

Gaël Nicolas, David Wallon, Camille Charbonnier, Olivier Quenez, Stéphane Rousseau , et al. · 2015

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