Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.C39W
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TARDBP

NM_007375.4:p.C39W

Associated Papers

Effects of Pathogenic Mutants of the Neuroprotective RNase 5-Angiogenin in Amyotrophic Lateral Sclerosis (ALS).

Gotte G

Genes, 2024

NMR Characterization of Angiogenin Variants and tRNAAla Products Impacting Aberrant Protein Oligomerization.

Fagagnini A et al.

International Journal of Molecular Sciences, 2021

Loss of angiogenin function is related to earlier ALS onset and a paradoxical increase in ALS duration.

Aluri KC et al.

Scientific Reports, 2020

Stress Granules and ALS: A Case of Causation or Correlation?

Fernandes N et al.

Advances in Neurobiology, 2018

Prediction of functional loss of human angiogenin mutants associated with ALS by molecular dynamics simulations.

Padhi AK et al.

Scientific Reports, 2013

Structural and molecular insights into the mechanism of action of human angiogenin-ALS variants in neurons.

Thiyagarajan N et al.

Nature Communications, 2012

Targeting angiogenin in therapy of amyotropic lateral sclerosis.

Kishikawa H et al.

Expert Opinion on Therapeutic Targets, 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."