Varaico: Literature-Extracted Genetic Variants

Gene:YWHAQ
Variant:p.A152T
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YWHAQ

NM_006826.4:p.A152T

Associated Papers

The mechanisms underlying TDP-43-associated neurodegeneration in Alzheimer's disease and related dementias.

Gao J et al.

Molecular Psychiatry, 2025

Understanding Tau pathology: Insights from animal models.

Zhang H et al.

Zoological Research, 2025

Targeted protein degradation with bifunctional molecules as a novel therapeutic modality for Alzheimer's disease & beyond.

Sandhof CA et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025

MAPT-A152T mutation drives neuronal hyperactivity through Fyn-NMDAR signaling in human iPSC-Derived neurons: Insights into Alzheimer's pathogenesis.

Itsuno M et al.

Regenerative Therapy, 2025

MAPT mutations associated with familial tauopathies lead to formation of conformationally distinct oligomers that have cross-seeding ability.

Bhopatkar AA et al.

Protein Science : a Publication of the Protein Society, 2024

The Enigma of Tau Protein Aggregation: Mechanistic Insights and Future Challenges.

Zheng H et al.

International Journal of Molecular Sciences, 2024

Single-cell transcriptomic and neuropathologic analysis reveals dysregulation of the integrated stress response in progressive supranuclear palsy.

Whitney K et al.

Biorxiv : the Preprint Server for Biology, 2023

Interaction of Proteins Involved in Neuronal Proteinopathies.

Kulichikhin KY et al.

Life (basel, Switzerland), 2023

Influence of FTDP-17 mutants on circular Tau RNAs.

Margvelani G et al.

Biorxiv : the Preprint Server for Biology, 2023

17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability.

Saia F et al.

Reports (mdpi), 2023

Small-molecule activators specific to adenine base editors through blocking the canonical TGF-β pathway.

Yang Y et al.

Nucleic Acids Research, 2022

What's in a Gene? The Outstanding Diversity of MAPT.

Ruiz-Gabarre D et al.

Cells, 2022

A novel D-amino acid peptide with therapeutic potential (ISAD1) inhibits aggregation of neurotoxic disease-relevant mutant Tau and prevents Tau toxicity in vitro.

Aillaud I et al.

Alzheimer's Research & Therapy, 2022

Effects of altered tau expression on dentate granule cell excitability in mice.

Cloyd RA et al.

Experimental Neurology, 2021

High-content image-based analysis and proteomic profiling identifies Tau phosphorylation inhibitors in a human iPSC-derived glutamatergic neuronal model of tauopathy.

Cheng C et al.

Scientific Reports, 2021

Current and future applications of induced pluripotent stem cell-based models to study pathological proteins in neurodegenerative disorders.

de Rus Jacquet A et al.

Molecular Psychiatry, 2021

Tauopathies: Deciphering Disease Mechanisms to Develop Effective Therapies.

Silva MC et al.

International Journal of Molecular Sciences, 2020

Systematic review of genetic association studies in people with Lewy body dementia.

Sanghvi H et al.

International Journal of Geriatric Psychiatry, 2020

MAPT mutations, tauopathy, and mechanisms of neurodegeneration.

Strang KH et al.

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

Tau/MAPT disease-associated variant A152T alters tau function and toxicity via impaired retrograde axonal transport.

Butler VJ et al.

Human Molecular Genetics, 2019

It's all about tau.

Tapia-Rojas C et al.

Progress in Neurobiology, 2019

Rare Tauopathies.

Ali F et al.

Seminars in Neurology, 2019

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant.

Carlomagno Y et al.

Acta Neuropathologica Communications, 2019

Regulation of Tau Homeostasis and Toxicity by Acetylation.

Tracy T et al.

Advances in Experimental Medicine and Biology, 2019

Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing.

Goldman JS et al.

Molecular Diagnosis & Therapy, 2018

Neuronal levels and sequence of tau modulate the power of brain rhythms.

Das M et al.

Neurobiology of Disease, 2018

Glutamatergic nervous system degeneration in a C. elegans TauA152T tauopathy model involves pathways of excitotoxicity and Ca2+ dysregulation.

Choudhary B et al.

Neurobiology of Disease, 2018

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.

Li J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Heparan Sulfate as a Therapeutic Target in Tauopathies: Insights From Zebrafish.

Alavi Naini SM et al.

Frontiers in Cell and Developmental Biology, 2018

Molecular Genetics of Neurodegenerative Dementias.

Hinz FI et al.

Cold Spring Harbor Perspectives in Biology, 2017

MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies.

Labbé C et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2016

MMP-9 and MMP-2 Contribute to Neuronal Cell Death in iPSC Models of Frontotemporal Dementia with MAPT Mutations.

Biswas MHU et al.

Stem Cell Reports, 2016

Increased 4R-Tau Induces Pathological Changes in a Human-Tau Mouse Model.

Schoch KM et al.

Neuron, 2016

Tau mutant A152T, a risk factor for FTD/PSP, induces neuronal dysfunction and reduced lifespan independently of aggregation in a C. elegans Tauopathy model.

Pir GJ et al.

Molecular Neurodegeneration, 2016

Expression of A152T human tau causes age-dependent neuronal dysfunction and loss in transgenic mice.

Maeda S et al.

Embo Reports, 2016

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.

Unknown Author

Neurology, 2015

Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein.

Ehrlich M et al.

Stem Cell Reports, 2015

26143746 (PubMed )
Supplement: mmc2.pdf

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

Lattante S et al.

Trends in Genetics : Tig, 2015

Dorsal root ganglion neurons carrying a P301S Tau mutation: a valid in vitro model for screening drugs against tauopathies?

Alberts N et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014

Regulation of alternative splicing of tau exon 10.

Qian W et al.

Neuroscience Bulletin, 2014

The neurogenetics of atypical parkinsonian disorders.

Fogel BL et al.

Seminars in Neurology, 2014

Pallidonigroluysian atrophy associated with p.A152T variant in MAPT.

Graff-Radford J et al.

Parkinsonism & Related Disorders, 2013

Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.

Lee SE et al.

Alzheimer Disease and Associated Disorders, 0

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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."