Associated Papers
GASDERMIN D-mediated pyroptosis as a therapeutic target in TAU-dependent frontotemporal dementia mouse model.
Silva-Llanes I et al.
Journal of Biomedical Science, 2026
Gonadal hormones contribute to sex differences in behavior, pathology and epigenetic modifications in the 3×Tg-AD mouse model of Alzheimer's disease.
Song W et al.
Biology of Sex Differences, 2025
Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India.
Ramakrishnan S et al.
Bmc Neurology, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
Targeting CB2 receptor with a novel antagonist reverses cognitive decline, neurodegeneration and pyroptosis in a TAU-dependent frontotemporal dementia mouse model.
Silva-Llanes I et al.
Brain, Behavior, and Immunity, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights.
De Bertier S et al.
Journal of Neurology, 2025
G272V and P301L Mutations Induce Isoform Specific Tau Mislocalization to Dendritic Spines and Synaptic Dysfunctions in Cellular Models of 3R and 4R Tau Frontotemporal Dementia.
Yu K et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024
Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
Nan H et al.
Alzheimer's Research & Therapy, 2024
Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.
Morino H et al.
Movement Disorders Clinical Practice, 2024
Osteopontin drives neuroinflammation and cell loss in MAPT-N279K frontotemporal dementia patient neurons.
Al-Dalahmah O et al.
Cell Stem Cell, 2024
Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review.
Villa C et al.
Frontiers in Bioscience (landmark Edition), 2024
A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy.
Li H et al.
Frontiers in Neurology, 2024
RIPK1 expression and inhibition in tauopathies: implications for neuroinflammation and neuroprotection.
Silva-Llanes I et al.
Frontiers in Neuroscience, 2024
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Silvaieh S et al.
Human Genomics, 2023
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Silvaieh S et al.
Human Genomics, 2023
Targeted Sequencing Detects Variants That May Contribute to the Risk of Neuropsychiatric Disorders.
Mahadevan J et al.
Indian Journal of Psychological Medicine, 2022
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.
Rossi G et al.
Frontiers in Aging Neuroscience, 2022
Phosphorylation in two discrete tau domains regulates a stepwise process leading to postsynaptic dysfunction.
Teravskis PJ et al.
The Journal of Physiology, 2021
Phenotype Heterogeneity and Genotype Correlation of MAPT Mutations in a Chinese PUMCH Cohort.
Mao C et al.
Journal of Molecular Neuroscience : Mn, 2021
The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series.
Ulugut Erkoyun H et al.
Journal of Alzheimer's Disease : Jad, 2021
Prolonged tau clearance and stress vulnerability rescue by pharmacological activation of autophagy in tauopathy neurons.
Silva MC et al.
Nature Communications, 2020
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
Genetic screen in a large series of patients with primary progressive aphasia.
Ramos EM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019
Targeted degradation of aberrant tau in frontotemporal dementia patient-derived neuronal cell models.
Silva MC et al.
Elife, 2019
Heparin-induced tau filaments are polymorphic and differ from those in Alzheimer's and Pick's diseases.
Zhang W et al.
Elife, 2019
Familial tauopathy with P364S MAPT mutation: clinical course, neuropathology and ultrastructure of neuronal tau inclusions.
Štrafela P et al.
Neuropathology and Applied Neurobiology, 2018
The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review.
He S et al.
Neuropsychiatric Disease and Treatment, 2018
FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.
Tacik P et al.
Brain Pathology (zurich, Switzerland), 2017
Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy.
Tacik P et al.
Neuropathology and Applied Neurobiology, 2017
Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study.
Jiskoot LC et al.
Neurology, 2016
Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.
Guven G et al.
Plos One, 2016
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Di Fonzo A et al.
Neurology, 2014
Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.
Rossi G et al.
Neurobiology of Aging, 2014
Mutations in MAPT gene cause chromosome instability and introduce copy number variations widely in the genome.
Rossi G et al.
Journal of Alzheimer's Disease : Jad, 2013
The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.
Kara E et al.
Neurobiology of Aging, 2012
New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.
Rossi G et al.
Neurobiology of Aging, 2012