Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.W113*
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TARDBP

NM_007375.4:p.W113*

Associated Papers

Structural details of helix-mediated multimerization of the conserved region of TDP-43 C-terminal domain.

Rizuan A et al.

Nature Communications, 2025

Repulsive vs Attractive Crowding Distinctly Regulate TDP-43 Condensates through Region-specific Structural Dynamics.

Zhang G et al.

Jacs Au, 2025

Pathological Mutations D169G and P112H Electrostatically Aggravate the Amyloidogenicity of the Functional Domain of TDP-43.

Pillai M et al.

Acs Chemical Neuroscience, 2024

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

Structural details of helix-mediated TDP-43 C-terminal domain multimerization.

Rizuan A et al.

Biorxiv : the Preprint Server for Biology, 2024

Phosphomimetic substitutions in TDP-43's transiently α-helical region suppress phase separation.

Haider R et al.

Biophysical Journal, 2024

Dissecting the Effect of ALS Mutation G335D on the Early Aggregation of the TDP-43 Amyloidogenic Core Peptide: Helix-to-β-Sheet Transition and Conformational Shift.

Li F et al.

Journal of Chemical Information and Modeling, 2023

Role of Triggers on the Structural and Functional Facets of TAR DNA-binding Protein 43.

Camilus N et al.

Neuroscience, 2023

Atomistic Insights into A315E Mutation-Enhanced Pathogenicity of TDP-43 Core Fibrils.

Li F et al.

Acs Chemical Neuroscience, 2022

TDP-43 α-helical structure tunes liquid-liquid phase separation and function.

Conicella AE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

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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."