Varaico: Literature-Extracted Genetic Variants

Gene:TFEB
Variant:p.S211A
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TFEB

NM_001271944.2:p.S211A

Associated Papers

The lysosomal LAMTOR-Rag complex functions as a checkpoint for antiviral interferon production.

Feng Z et al.

The Embo Journal, 2026

41571995 (PubMed )
Supplement: 44318_2026_695_MOESM3_ESM.pdf

Small-molecule activation of TFEB alleviates Niemann-Pick disease type C via promoting lysosomal exocytosis and biogenesis.

Du K et al.

Elife, 2025

GADD45α is a direct target of TFEB and contributes to tacrolimus-induced chronic nephrotoxicity.

Gao P et al.

Jci Insight, 2025

USP7 protects TFEB from proteasome-mediated degradation.

Keshri S et al.

Cell Reports, 2024

Regulation of Caenorhabditis elegans HLH-30 subcellular localization dynamics: Evidence for a redox-dependent mechanism.

Colino-Lage H et al.

Free Radical Biology & Medicine, 2024

Enhancement of lysosome biogenesis as a potential therapeutic approach for neurodegenerative diseases.

Xue W et al.

Neural Regeneration Research, 2023

Phosphorylation of EIF2S1 (eukaryotic translation initiation factor 2 subunit alpha) is indispensable for nuclear translocation of TFEB and TFE3 during ER stress.

Dang TT et al.

Autophagy, 2023

PTEN Deficiency Facilitates Exosome Secretion and Metastasis in Cholangiocarcinoma by Impairing TFEB-mediated Lysosome Biogenesis.

Jiang TY et al.

Gastroenterology, 2023

Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex.

Cui Z et al.

Nature, 2023

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

Jiao F et al.

Cns Neuroscience & Therapeutics, 2023

The FACT complex facilitates expression of lysosomal and antioxidant genes through binding to TFEB and TFE3.

Jeong E et al.

Autophagy, 2022

Presenilin 1 phosphorylation regulates amyloid-β degradation by microglia.

Ledo JH et al.

Molecular Psychiatry, 2021

TSC2 regulates lysosome biogenesis via a non-canonical RAGC and TFEB-dependent mechanism.

Alesi N et al.

Nature Communications, 2021

Differential Sensitivity of Wild-Type and BRAF-Mutated Cells to Combined BRAF and Autophagy Inhibition.

Yeom H et al.

Biomolecules & Therapeutics, 2021

MiT Family Transcriptional Factors in Immune Cell Functions.

Kim S et al.

Molecules and Cells, 2021

A conserved cysteine-based redox mechanism sustains TFEB/HLH-30 activity under persistent stress.

Martina JA et al.

The Embo Journal, 2021

Nuclear miR-30b-5p suppresses TFEB-mediated lysosomal biogenesis and autophagy.

Guo H et al.

Cell Death and Differentiation, 2021

MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B.

Cinque L et al.

The Embo Journal, 2020

32716134 (PubMed )
Supplement: EMBJ-39-e105696-s001.pdf

Oxidation of multiple MiT/TFE transcription factors links oxidative stress to transcriptional control of autophagy and lysosome biogenesis.

Wang H et al.

Autophagy, 2020

A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome.

Napolitano G et al.

Nature, 2020

CDK4/6 regulate lysosome biogenesis through TFEB/TFE3.

Yin Q et al.

The Journal of Cell Biology, 2020

An FGF15/19-TFEB regulatory loop controls hepatic cholesterol and bile acid homeostasis.

Wang Y et al.

Nature Communications, 2020

Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance.

Naso F et al.

The Embo Journal, 2020

YWHA/14-3-3 proteins recognize phosphorylated TFEB by a noncanonical mode for controlling TFEB cytoplasmic localization.

Xu Y et al.

Autophagy, 2019

Transcriptional regulation of autophagy-lysosomal function in BRAF-driven melanoma progression and chemoresistance.

Li S et al.

Nature Communications, 2019

TFEB-driven endocytosis coordinates MTORC1 signaling and autophagy.

Nnah IC et al.

Autophagy, 2019

The transcription factors TFE3 and TFEB amplify p53 dependent transcriptional programs in response to DNA damage.

Brady OA et al.

Elife, 2018

Lysosomal Protein Lamtor1 Controls Innate Immune Responses via Nuclear Translocation of Transcription Factor EB.

Hayama Y et al.

Journal of Immunology (baltimore, Md. : 1950), 2018

MAP4K3 mediates amino acid-dependent regulation of autophagy via phosphorylation of TFEB.

Hsu CL et al.

Nature Communications, 2018

TFEB regulates lysosomal positioning by modulating TMEM55B expression and JIP4 recruitment to lysosomes.

Willett R et al.

Nature Communications, 2017

Multistep regulation of TFEB by MTORC1.

Vega-Rubin-de-Celis S et al.

Autophagy, 2017

TDP-43 loss of function increases TFEB activity and blocks autophagosome-lysosome fusion.

Xia Q et al.

The Embo Journal, 2016

The nutrient-responsive transcription factor TFE3 promotes autophagy, lysosomal biogenesis, and clearance of cellular debris.

Martina JA et al.

Science Signaling, 2014

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.

Spampanato C et al.

Embo Molecular Medicine, 2013

Rag GTPases mediate amino acid-dependent recruitment of TFEB and MITF to lysosomes.

Martina JA et al.

The Journal of Cell Biology, 2013

The transcription factor TFEB links mTORC1 signaling to transcriptional control of lysosome homeostasis.

Roczniak-Ferguson A et al.

Science Signaling, 2012

MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB.

Martina JA et al.

Autophagy, 2012

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB.

Settembre C et al.

The Embo Journal, 2012

FGF Signaling Promotes Lysosome Biogenesis in Chondrocytes via the Mannose Phosphate Receptor Pathway.

Cinque L et al.

Traffic (copenhagen, Denmark), 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."