Search Results - "Scheveneels, Wendy"
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HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease
Published in Brain (London, England : 1878) (01-03-2018)“…Patients with Charcot-Marie-Tooth disease with predominant axonal loss (CMT2) show extensive genetic heterogeneity. Benoy et al. demonstrate a link between…”
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Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
Published in Scientific reports (12-02-2016)“…Hexanucleotide repeat expansions in C9orf72 are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) (c9ALS/FTD)…”
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Molecular Dissection of FUS Points at Synergistic Effect of Low-Complexity Domains in Toxicity
Published in Cell reports (Cambridge) (17-07-2018)“…RNA-binding protein aggregation is a pathological hallmark of several neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and…”
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A pathogenic mutation in the ALS/FTD gene VCP induces mitochondrial hypermetabolism by modulating the permeability transition pore
Published in Acta neuropathologica communications (10-10-2024)“…Valosin-containing protein (VCP) is a ubiquitously expressed type II AAA ATPase protein, implicated in both amyotrophic lateral sclerosis (ALS) and…”
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Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity
Published in Proceedings of the National Academy of Sciences - PNAS (11-09-2007)“…Influx of Ca²⁺ ions through α-amino-3-hydroxy-5-methylisoxazole-4-propionic acid (AMPA) receptors contributes to neuronal damage in stroke, epilepsy, and…”
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Effects of vascular endothelial growth factor (VEGF) on motor neuron degeneration
Published in Neurobiology of disease (01-10-2004)“…Both in mice and humans, low expression levels of vascular endothelial growth factor (VEGF) are linked to adult-onset motor neuron disease or amyotrophic…”
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FUS-induced neurotoxicity in Drosophila is prevented by downregulating nucleocytoplasmic transport proteins
Published in Human molecular genetics (01-12-2018)“…Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases characterized by the progressive loss of specific…”
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A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism
Published in Acta neuropathologica (01-03-2018)“…The exact mechanism underlying amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) associated with the GGGGCC repeat expansion in C9orf72 is…”
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PP2A and GSK3 act as modifiers of FUS-ALS by modulating mitochondrial transport
Published in Acta neuropathologica (01-06-2024)“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which currently lacks effective treatments. Mutations in the RNA-binding protein FUS…”
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The neurotrophic properties of progranulin depend on the granulin E domain but do not require sortilin binding
Published in Neurobiology of aging (01-11-2013)“…Abstract Progranulin (PGRN) is a growth factor involved in wound healing, inflammation, tumor growth, and neurodegeneration. Mutations in the gene encoding…”
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VEGF protects motor neurons against excitotoxicity by upregulation of GluR2
Published in Neurobiology of aging (01-12-2010)“…Abstract Influx of Ca2+ ions through the α-amino-3-hydroxy-5-methylisoxazole propionic acid (AMPA) receptors is toxic to neurons and contributes to motor…”
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Genetic ablation of IP 3 receptor 2 increases cytokines and decreases survival of SOD1 G93A mice
Published in Human molecular genetics (15-08-2016)Get full text
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Genetic ablation of IP3 receptor 2 increases cytokines and decreases survival of SOD1G93A mice
Published in Human molecular genetics (15-08-2016)“…Amyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disease characterized by the selective death of motor neurons. Disease…”
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