Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.D89E
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TARDBP

NM_007375.4:p.D89E

Associated Papers

TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.

Pir GJ et al.

The Febs Journal, 2026

Inhibiting glycogen synthase kinase 3 suppresses TDP-43-mediated neurotoxicity in a caspase-dependent manner.

White MA et al.

Research Square, 2025

TDP-43 and ER Stress in Neurodegeneration: Friends or Foes?

de Mena L et al.

Frontiers in Molecular Neuroscience, 2021

Truncation of the TAR DNA-binding protein 43 is not a prerequisite for cytoplasmic relocalization, and is suppressed by caspase inhibition and by introduction of the A90V sequence variant.

Wobst HJ et al.

Plos One, 2017

Structural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation.

Chiang CH et al.

Scientific Reports, 2016

The cleavage pattern of TDP-43 determines its rate of clearance and cytotoxicity.

Li Q et al.

Nature Communications, 2015

TDP-43-induced death is associated with altered regulation of BIM and Bcl-xL and attenuated by caspase-mediated TDP-43 cleavage.

Suzuki H et al.

The Journal of Biological Chemistry, 2011

Neurotoxic effects of TDP-43 overexpression in C. elegans.

Ash PE et al.

Human Molecular Genetics, 2010

Review: transactive response DNA-binding protein 43 (TDP-43): mechanisms of neurodegeneration.

Gendron TF et al.

Neuropathology and Applied Neurobiology, 2010

Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin.

Dormann D et al.

Journal of Neurochemistry, 2009

Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.

Zhang YJ et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007

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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."