Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.A328T
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TARDBP

NM_007375.4:p.A328T

Associated Papers

Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism.

Hogan AL et al.

Acta Neuropathologica Communications, 2025

Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis.

Kumar R et al.

Ibro Neuroscience Reports, 2022

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis.

Prasad A et al.

Frontiers in Molecular Neuroscience, 2019

TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca²⁺ signaling in motor neurons.

Mutihac R et al.

Neurobiology of Disease, 2015

TDP-43/FUS in motor neuron disease: Complexity and challenges.

Guerrero EN et al.

Progress in Neurobiology, 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."