Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.P301S
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MAPT

NM_005910.6:p.P301S

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

Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.

Anis S et al.

Parkinsonism & Related Disorders, 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

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights.

De Bertier S et al.

Journal of Neurology, 2025

Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.

Morino H et al.

Movement Disorders Clinical Practice, 2024

A selection and optimization strategy for single-domain antibodies targeting the PHF6 linear peptide within the tau intrinsically disordered protein.

Mortelecque J et al.

The Journal of Biological Chemistry, 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

RIPK1 expression and inhibition in tauopathies: implications for neuroinflammation and neuroprotection.

Silva-Llanes I et al.

Frontiers in Neuroscience, 2024

Conformational fingerprinting of tau variants and strains by Raman spectroscopy.

Devitt G et al.

Rsc Advances, 2021

Heparin-induced tau filaments are polymorphic and differ from those in Alzheimer's and Pick's diseases.

Zhang W et al.

Elife, 2019

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

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

Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration.

Kouri N et al.

Acta Neuropathologica, 2014

New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization.

Rossi G et al.

Neurobiology of Aging, 2012

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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."