Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.A315T
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MAPT

NM_001377265.1:p.A315T

Associated Papers

Targeting 14-3-3θ-mediated TDP-43 pathology in amyotrophic lateral sclerosis and frontotemporal dementia mice.

Ke YD et al.

Neuron, 2024

Involvement of heterologous ubiquitination including linear ubiquitination in Alzheimer's disease and amyotrophic lateral sclerosis.

Sato Y et al.

Frontiers in Molecular Biosciences, 2023

Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.

Xu F et al.

Bmc Medical Genomics, 2022

35932023 (PubMed )
Supplement: 12920_2022_1327_MOESM1_ESM.docx

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD.

Wood A et al.

International Journal of Molecular Sciences, 2021

Amyotrophic Lateral Sclerosis Modifiers in Drosophila Reveal the Phospholipase D Pathway as a Potential Therapeutic Target.

Kankel MW et al.

Genetics, 2020

Characterizing TDP-43307-319 Oligomeric Assembly: Mechanistic and Structural Implications Involved in the Etiology of Amyotrophic Lateral Sclerosis.

Laos V et al.

Acs Chemical Neuroscience, 2019

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

Hergesheimer RC et al.

Brain : a Journal of Neurology, 2019

TDP-43 enhances translation of specific mRNAs linked to neurodegenerative disease.

Neelagandan N et al.

Nucleic Acids Research, 2019

Therapeutic and diagnostic challenges for frontotemporal dementia.

D'Alton S et al.

Frontiers in Aging Neuroscience, 2014

Similar dose-dependence of motor neuron cell death caused by wild type human TDP-43 and mutants with ALS-associated amino acid substitutions.

Wu LS et al.

Journal of Biomedical Science, 2013

Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.

Watanabe S et al.

The Journal of Biological Chemistry, 2013

Drosophila Answers to TDP-43 Proteinopathies.

Romano M et al.

Journal of Amino Acids, 2012

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond.

Da Cruz S et al.

Current Opinion in Neurobiology, 2011

Progranulin and TDP-43: mechanistic links and future directions.

Kumar-Singh S

Journal of Molecular Neuroscience : Mn, 2011

Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis.

Barmada SJ et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: disease-associated pathways.

Barmada SJ et al.

Reviews in the Neurosciences, 2010

[Frontotemporal dementia (FTD) and genetic mutations including progranulin gene].

Arai T et al.

Rinsho Shinkeigaku = Clinical Neurology, 2008

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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."