Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.K136R
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TARDBP

NM_007375.4:p.K136R

Associated Papers

From TDP-43/RNA complex formation to disease-linked TDP-43 aggregation through a structural and cellular approach.

Feng Y et al.

Nature Communications, 2026

PIAS1/PIAS4-Mediated SUMOylation of TDP-43 Is Induced by Oxidative Stress.

Pendlebury DF et al.

Biorxiv : the Preprint Server for Biology, 2025

Critical impact of lysine 136 in TDP-43 phase separation, compartmentalization, and aggregation in living vertebrates.

Maurel C et al.

Iscience, 2025

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.

Xing Y et al.

Orphanet Journal of Rare Diseases, 2025

40188109 (PubMed )
Supplement: 13023_2025_3696_MOESM2_ESM.xlsx › Sheet1

A stress-dependent TDP-43 SUMOylation program preserves neuronal function.

Suk TR et al.

Molecular Neurodegeneration, 2025

The pathogenic mechanism of TAR DNA-binding protein 43 (TDP-43) in amyotrophic lateral sclerosis.

Wang X et al.

Neural Regeneration Research, 2024

Understanding age-related pathologic changes in TDP-43 functions and the consequence on RNA splicing and signalling in health and disease.

Cheng F et al.

Ageing Research Reviews, 2024

Proteomics elucidating physiological and pathological functions of TDP-43.

García Morato J et al.

Proteomics, 2023

Molecular Dissection of TDP-43 as a Leading Cause of ALS/FTLD.

Tamaki Y et al.

International Journal of Molecular Sciences, 2022

Sirtuin-1 sensitive lysine-136 acetylation drives phase separation and pathological aggregation of TDP-43.

Garcia Morato J et al.

Nature Communications, 2022

SUMOylation Regulates TDP-43 Splicing Activity and Nucleocytoplasmic Distribution.

Maraschi A et al.

Molecular Neurobiology, 2021

A role for SUMOylation in the Formation and Cellular Localization of TDP-43 Aggregates in Amyotrophic Lateral Sclerosis.

Maurel C et al.

Molecular Neurobiology, 2020

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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."