Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.D247A
Back to variants list

TARDBP

NM_007375.4:p.D247A

Associated Papers

ALS-linked TDP-43 mutations interfere with the recruitment of RNA recognition motifs to G-quadruplex RNA.

Ishiguro A et al.

Scientific Reports, 2023

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

Molecular dissection of ALS-linked TDP-43 - involvement of the Gly-rich domain in interaction with G-quadruplex mRNA.

Ishiguro A et al.

Febs Letters, 2020

An Intramolecular Salt Bridge Linking TDP43 RNA Binding, Protein Stability, and TDP43-Dependent Neurodegeneration.

Flores BN et al.

Cell Reports, 2019

A molecular mechanism realizing sequence-specific recognition of nucleic acids by TDP-43.

Furukawa Y et al.

Scientific Reports, 2016

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43.

Lukavsky PJ et al.

Nature Structural & Molecular Biology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."