Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.K136Q
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TARDBP

NM_007375.4:p.K136Q

Associated Papers

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

Maurel C et al.

Iscience, 2025

Single Acetylation-mimetic Mutation in TDP-43 Nuclear Localization Signal Disrupts Importin α1/β Signaling.

Ko YH et al.

Journal of Molecular Biology, 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

RNA-binding deficient TDP-43 drives cognitive decline in a mouse model of TDP-43 proteinopathy.

Necarsulmer JC et al.

Elife, 2023

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

Garcia Morato J et al.

Nature Communications, 2022

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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."