Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R406W
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GFAP

NM_002055.5:p.R406W

Associated Papers

Characterization of the brain lipidome associated with frontotemporal lobar degeneration MAPT P301S mutation.

Maroto-Juanes A et al.

Journal of Lipid Research, 2026

Cortical versus hippocampal network dysfunction in a human brain assembloid model of epilepsy and intellectual disability.

McCrimmon CM et al.

Cell Reports, 2025

Rescue of synaptosomal glutamate release defects in tau transgenic mice by the tau aggregation inhibitor hydromethylthionine.

Cranston AL et al.

Cellular Signalling, 2024

Tau pathology in neurodegenerative disease: disease mechanisms and therapeutic avenues.

Samudra N et al.

The Journal of Clinical Investigation, 2023

Advances in Recapitulating Alzheimer's Disease Phenotypes Using Human Induced Pluripotent Stem Cell-Based In Vitro Models.

Hasan MF et al.

Brain Sciences, 2022

NLRP3 inflammasome inhibition with MCC950 improves insulin sensitivity and inflammation in a mouse model of frontotemporal dementia.

Hull C et al.

Neuropharmacology, 2020

Knock-in of Mutated hTAU Causes Insulin Resistance, Inflammation and Proteostasis Disturbance in a Mouse Model of Frontotemporal Dementia.

Hull C et al.

Molecular Neurobiology, 2020

Genetic ablation of tau in postnatal neurons rescues decreased adult hippocampal neurogenesis in a tauopathy model.

Houben S et al.

Neurobiology of Disease, 2019

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Brodehl A et al.

Biophysical Reviews, 2018

Annonacin, a natural lipophilic mitochondrial complex I inhibitor, increases phosphorylation of tau in the brain of FTDP-17 transgenic mice.

Yamada ES et al.

Experimental Neurology, 2014

Desminopathies: pathology and mechanisms.

Clemen CS et al.

Acta Neuropathologica, 2013

Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.

Chourbagi O et al.

Experimental Cell Research, 2011

Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation.

Murakami T et al.

The American Journal of Pathology, 2006

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

Goudeau B et al.

Human Mutation, 2006

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

Arbustini E et al.

European Journal of Heart Failure, 2006

Alzheimer's disease-like tau neuropathology leads to memory deficits and loss of functional synapses in a novel mutated tau transgenic mouse without any motor deficits.

Schindowski K et al.

The American Journal of Pathology, 2006

Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology.

Bronner IF et al.

Brain : a Journal of Neurology, 2005

Tau assembly in inducible transfectants expressing wild-type or FTDP-17 tau.

DeTure M et al.

The American Journal of Pathology, 2002

Early-onset, rapidly progressive familial tauopathy with R406W mutation.

Saito Y et al.

Neurology, 2002

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

Stanford PM et al.

Brain : a Journal of Neurology, 2000

Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

van Swieten JC et al.

Annals of Neurology, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."