Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.K116R
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TFEB

NM_001271944.2:p.K116R

Associated Papers

The ATAC complex represses the transcriptional program of the autophagy-lysosome pathway via its E3 ubiquitin ligase activity.

Wang X et al.

Cell Reports, 2024

USP7 protects TFEB from proteasome-mediated degradation.

Keshri S et al.

Cell Reports, 2024

The regulatory mechanism and therapeutic potential of transcription factor EB in neurodegenerative diseases.

Jiao F et al.

Cns Neuroscience & Therapeutics, 2023

Sirtuins in Alzheimer's Disease: SIRT2-Related GenoPhenotypes and Implications for PharmacoEpiGenetics.

Cacabelos R et al.

International Journal of Molecular Sciences, 2019

Importance of TFEB acetylation in control of its transcriptional activity and lysosomal function in response to histone deacetylase inhibitors.

Zhang J et al.

Autophagy, 2018

Deacetylation of TFEB promotes fibrillar Aβ degradation by upregulating lysosomal biogenesis in microglia.

Bao J et al.

Protein & Cell, 2016

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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."