Varaico: Literature-Extracted Genetic Variants

Gene:TXNIP
Variant:p.C247S
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TXNIP

NM_006472.6:p.C247S

Associated Papers

TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescence.

Kahlhofer J et al.

The Embo Journal, 2025

Txnip deletions and missense alleles prolong the survival of cones in a retinitis pigmentosa mouse model.

Xue Y et al.

Elife, 2024

Gene Therapies for Retinitis Pigmentosa that Target Glucose Metabolism.

Xue Y et al.

Cold Spring Harbor Perspectives in Medicine, 2024

Txnip deletions and missense alleles prolong the survival of cones in a retinitis pigmentosa mouse model.

Xue Y et al.

Biorxiv : the Preprint Server for Biology, 2024

TXNIP-mediated crosstalk between oxidative stress and glucose metabolism.

Kim S et al.

Plos One, 2024

Txnip Gene Therapy of Retinitis Pigmentosa Improves Cone Health.

Xue Y

Advances in Experimental Medicine and Biology, 2023

Gene-agnostic therapeutic approaches for inherited retinal degenerations.

John MC et al.

Frontiers in Molecular Neuroscience, 2022

mTOR controls ChREBP transcriptional activity and pancreatic β cell survival under diabetic stress.

Chau GC et al.

The Journal of Cell Biology, 2017

Thioredoxin-interacting protein regulates protein disulfide isomerases and endoplasmic reticulum stress.

Lee S et al.

Embo Molecular Medicine, 2014

An expanded family of arrestins regulate metabolism.

Patwari P et al.

Trends in Endocrinology and Metabolism: Tem, 2012

Thioredoxin-independent regulation of metabolism by the alpha-arrestin proteins.

Patwari P et al.

The Journal of Biological Chemistry, 2009

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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."