Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.P332S
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MAPT

NM_001377265.1:p.P332S

Associated Papers

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.

Meng Y et al.

European Journal of Neurology, 2025

40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx

Clinical characteristics of semantic variant of primary progressive aphasia with TDP-43- and tau-related gene variants.

Ma Y et al.

Journal of Alzheimer's Disease : Jad, 2025

Cellular and pathological functions of tau.

Parra Bravo C et al.

Nature Reviews. Molecular Cell Biology, 2024

Disease-Associated Mutations in Tau Encode for Changes in Aggregate Structure Conformation.

Sun KT et al.

Acs Chemical Neuroscience, 2023

Diagnostic criteria in dementing illness. What's new?

Labos E et al.

Vertex (buenos Aires, Argentina), 2023

In vitro Tau Aggregation Inducer Molecules Influence the Effects of MAPT Mutations on Aggregation Dynamics.

Ingham DJ et al.

Biochemistry, 2022

Tau mRNA Metabolism in Neurodegenerative Diseases: A Tangle Journey.

da Costa PJ et al.

Biomedicines, 2022

Tau Protein and Frontotemporal Dementias.

Goedert M et al.

Advances in Experimental Medicine and Biology, 2021

Foix-Chavany-Marie syndrome due to type E TDP43 pathology.

Clark CN et al.

Neuropathology and Applied Neurobiology, 2020

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Moore KM et al.

The Lancet. Neurology, 2020

31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf

MAPT mutations, tauopathy, and mechanisms of neurodegeneration.

Strang KH et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2019

The RNA encoding the microtubule-associated protein tau has extensive structure that affects its biology.

Chen JL et al.

Plos One, 2019

Ordered Assembly of Tau Protein and Neurodegeneration.

Goedert M et al.

Advances in Experimental Medicine and Biology, 2019

Different tau species lead to heterogeneous tau pathology propagation and misfolding.

Dujardin S et al.

Acta Neuropathologica Communications, 2018

Tau filaments in neurodegenerative diseases.

Goedert M

Febs Letters, 2018

Distinct differences in prion-like seeding and aggregation between Tau protein variants provide mechanistic insights into tauopathies.

Strang KH et al.

The Journal of Biological Chemistry, 2018

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies.

Forrest SL et al.

Brain : a Journal of Neurology, 2018

Therapeutic Strategies for Restoring Tau Homeostasis.

Young ZT et al.

Cold Spring Harbor Perspectives in Medicine, 2018

Genetics of Progressive Supranuclear Palsy.

Im SY et al.

Journal of Movement Disorders, 2015

NEURODEGENERATION. Alzheimer's and Parkinson's diseases: The prion concept in relation to assembled Aβ, tau, and α-synuclein.

Goedert M

Science (new York, N.y.), 2015

Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging.

Ghetti B et al.

Neuropathology and Applied Neurobiology, 2015

Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia.

Flanagan EP et al.

Dementia and Geriatric Cognitive Disorders, 2015

Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations.

Rossi G et al.

Frontiers in Aging Neuroscience, 2015

Regulation of alternative splicing of tau exon 10.

Qian W et al.

Neuroscience Bulletin, 2014

Frontotemporal dementia: implications for understanding Alzheimer disease.

Goedert M et al.

Cold Spring Harbor Perspectives in Medicine, 2012

Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S.

Deramecourt V et al.

Journal of Alzheimer's Disease : Jad, 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."