Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.C39S
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TARDBP

NM_007375.4:p.C39S

Associated Papers

Understanding liquid-liquid phase separation through TDP-43: fundamental principles, subcellular compartmentalisation, and role of solid inclusion formation.

Bigi A et al.

Genome Biology, 2026

Loss of TDP-43 oligomerization or RNA binding elicits distinct aggregation patterns.

Pérez-Berlanga M et al.

The Embo Journal, 2023

Biophysical evaluation of the oligomerization and conformational properties of the N-terminal domain of TDP-43.

Herrera MG et al.

Archives of Biochemistry and Biophysics, 2023

Loss of TDP-43 function underlies hippocampal and cortical synaptic deficits in TDP-43 proteinopathies.

Ni J et al.

Molecular Psychiatry, 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

Insight into the Folding and Dimerization Mechanisms of the N-Terminal Domain from Human TDP-43.

Vivoli-Vega M et al.

International Journal of Molecular Sciences, 2020

TDP-43 and FUS-structural insights into RNA recognition and self-association.

Loughlin FE et al.

Current Opinion in Structural Biology, 2019

The N-terminal dimerization is required for TDP-43 splicing activity.

Jiang LL et al.

Scientific Reports, 2017

Structural insights into the multi-determinant aggregation of TDP-43 in motor neuron-like cells.

Bozzo F et al.

Neurobiology of Disease, 2016

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 crystal structure of TDP-43 RRM1-DNA complex reveals the specific recognition for UG- and TG-rich nucleic acids.

Kuo PH et al.

Nucleic Acids Research, 2014

4-Hydroxynonenal induces persistent insolubilization of TDP-43 and alters its intracellular localization.

Kabuta C et al.

Biochemical and Biophysical Research Communications, 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."