Search Results - "Dourlen, Pierre"
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The new genetic landscape of Alzheimer’s disease: from amyloid cascade to genetically driven synaptic failure hypothesis?
Published in Acta neuropathologica (01-08-2019)“…A strong genetic predisposition (60–80% of attributable risk) is present in Alzheimer’s disease (AD). In view of this major genetic component, identification…”
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Fatty acid transport proteins in disease: New insights from invertebrate models
Published in Progress in lipid research (01-10-2015)“…The dysregulation of lipid metabolism has been implicated in various diseases, including diabetes, cardiopathies, dermopathies, retinal and neurodegenerative…”
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ER stress inhibits neuronal death by promoting autophagy
Published in Autophagy (01-06-2012)“…Endoplasmic reticulum (ER) stress has been implicated in neurodegenerative diseases but its relationship and role in disease progression remain unclear. Using…”
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Physiological and pathological roles of FATP-mediated lipid droplets in Drosophila and mice retina
Published in PLoS genetics (10-09-2018)“…Increasing evidence suggests that dysregulation of lipid metabolism is associated with neurodegeneration in retinal diseases such as age-related macular…”
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Two-color in vivo imaging of photoreceptor apoptosis and development in Drosophila
Published in Developmental biology (01-03-2011)“…We report a new two-color fluorescent imaging system to visualize the mosaic adult photoreceptor neurons (PRs) in real-time. Using this method, we examined a…”
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The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects
Published in Acta neuropathologica communications (08-01-2022)“…The Bridging Integrator 1 (BIN1) gene is a major susceptibility gene for Alzheimer's disease (AD). Deciphering its pathophysiological role is challenging due…”
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Drosophila fatty acid transport protein regulates rhodopsin-1 metabolism and is required for photoreceptor neuron survival
Published in PLoS genetics (01-07-2012)“…Tight regulation of the visual response is essential for photoreceptor function and survival. Visual response dysregulation often leads to photoreceptor cell…”
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TDP-43 Loss-of-Function Causes Neuronal Loss Due to Defective Steroid Receptor-Mediated Gene Program Switching in Drosophila
Published in Cell reports (Cambridge) (31-01-2013)“…TDP-43 proteinopathy is strongly implicated in the pathogenesis of amyotrophic lateral sclerosis and related neurodegenerative disorders. Whether TDP-43…”
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Identification of Tau Toxicity Modifiers in the Drosophila Eye
Published in Methods in molecular biology (Clifton, N.J.) (2024)“…Drosophila is a powerful model to study human diseases thanks to its genetic tools and ease of screening. Human genes can be expressed in targeted organs and…”
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Drosophila Models of Tauopathies : What Have We Learned?
Published in International journal of alzheimer's disease (2012)“…Aggregates of the microtubule-associated protein Tau are neuropathological hallmark lesions in Alzheimer's disease (AD) and related primary tauopathies. In…”
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Identification of Tau Toxicity Modifiers in the Drosophila Eye
Published in Methods in molecular biology (Clifton, N.J.) (2017)“…Drosophila is a powerful model to study human diseases thanks to its genetic tools and ease of screening. Human genes can be expressed in targeted organs and…”
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Pin1 allows for differential Tau dephosphorylation in neuronal cells
Published in Molecular and cellular neuroscience (01-05-2006)“…Neurofibrillary degeneration is likely to be related to abnormal Tau phosphorylation and aggregation. Among abnormal Tau phosphorylation sites, pThr231 is of…”
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The Peptidylprolyl cis/trans-Isomerase Pin1 Modulates Stress-induced Dephosphorylation of Tau in Neurons
Published in The Journal of biological chemistry (14-07-2006)“…Deregulation of Tau phosphorylation is a key question in Alzheimer disease pathogenesis. Recently, Pin1, a peptidylprolyl cis/trans-isomerase, was proposed to…”
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In vivo assessment of neuronal cell death in Drosophila
Published in Methods in molecular biology (Clifton, N.J.) (2015)“…Following neuronal cell death at the cellular level and over several time points is challenging in living animal because of the difficulty of accessing and…”
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Using High-Throughput Animal or Cell-Based Models to Functionally Characterize GWAS Signals
Published in Current genetic medicine reports (2018)“…Purpose of Review The advent of genome-wide association studies (GWASs) constituted a breakthrough in our understanding of the genetic architecture of…”
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ER stress protects from retinal degeneration
Published in The EMBO journal (06-05-2009)“…The unfolded protein response (UPR) is a specific cellular process that allows the cell to cope with the overload of unfolded/misfolded proteins in the…”
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Genome-wide, high-content siRNA screening identifies the Alzheimer’s genetic risk factor FERMT2 as a major modulator of APP metabolism
Published in Acta neuropathologica (01-06-2017)“…Genome-wide association studies (GWASs) have identified 19 susceptibility loci for Alzheimer’s disease (AD). However, understanding how these genes are…”
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Isoform‐dependent neurotoxicity of the Alzheimer disease risk factor BIN1: Molecular and cell biology/endosomal‐lysosomal dysfunction
Published in Alzheimer's & dementia (01-12-2020)“…Abstract Background Using genome‐wide association studies, BIN1 was identified as the most associated risk gene for Alzheimer’s Disease (AD) after APOE . A 3bp…”
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Isoform‐dependent neurotoxicity of the Alzheimer disease risk factor BIN1
Published in Alzheimer's & dementia (01-12-2020)“…Background Using genome‐wide association studies, BIN1 was identified as the most associated risk gene for Alzheimer’s Disease (AD) after APOE. A 3bp insertion…”
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Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease
Published in Neurobiology of aging (01-12-2018)“…Systematic epistasis analyses in multifactorial disorders are an important step to better characterize complex genetic risk structures. We conducted a…”
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