Varaico: Literature-Extracted Genetic Variants

Gene:RRAGB
Variant:p.Q99L
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RRAGB

NM_006064.5:p.Q99L

Associated Papers

The cGAS-STING pathway activates transcription factor TFEB to stimulate lysosome biogenesis and pathogen clearance.

Xu Y et al.

Immunity, 2025

Calcium signaling from damaged lysosomes induces cytoprotective stress granules.

Duran J et al.

The Embo Journal, 2024

Rag-Ragulator is the central organizer of the physical architecture of the mTORC1 nutrient-sensing pathway.

Valenstein ML et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

A mechanism that transduces lysosomal damage signals to stress granule formation for cell survival.

Duran J et al.

Biorxiv : the Preprint Server for Biology, 2024

MORG1 limits mTORC1 signaling by inhibiting Rag GTPases.

Abudu YP et al.

Molecular Cell, 2024

CDK5-PRMT1-WDR24 signaling cascade promotes mTORC1 signaling and tumor growth.

Yin S et al.

Cell Reports, 2023

An mTORC1-mediated negative feedback loop constrains amino acid-induced FLCN-Rag activation in renal cells with TSC2 loss.

Asrani K et al.

Nature Communications, 2022

Stress granules and mTOR are regulated by membrane atg8ylation during lysosomal damage.

Jia J et al.

The Journal of Cell Biology, 2022

Lysosomal GPCR-like protein LYCHOS signals cholesterol sufficiency to mTORC1.

Shin HR et al.

Science (new York, N.y.), 2022

GABARAP sequesters the FLCN-FNIP tumor suppressor complex to couple autophagy with lysosomal biogenesis.

Goodwin JM et al.

Science Advances, 2021

p27 controls Ragulator and mTOR activity in amino acid-deprived cells to regulate the autophagy-lysosomal pathway and coordinate cell cycle and cell growth.

Nowosad A et al.

Nature Cell Biology, 2020

CDK4/6 regulate lysosome biogenesis through TFEB/TFE3.

Yin Q et al.

The Journal of Cell Biology, 2020

32662822 (PubMed )
Supplement: JCB_201911036_TableS5.xlsx › Sheet1

C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases.

Ji YJ et al.

Plos Genetics, 2020

ER-lysosome contacts enable cholesterol sensing by mTORC1 and drive aberrant growth signalling in Niemann-Pick type C.

Lim CY et al.

Nature Cell Biology, 2019

The HGF-MET axis coordinates liver cancer metabolism and autophagy for chemotherapeutic resistance.

Huang X et al.

Autophagy, 2019

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

Li S et al.

Nature Communications, 2019

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Villegas F et al.

Cell Stem Cell, 2019

A nutrient-induced affinity switch controls mTORC1 activation by its Rag GTPase-Ragulator lysosomal scaffold.

Lawrence RE et al.

Nature Cell Biology, 2018

Translational Control through Differential Ribosome Pausing during Amino Acid Limitation in Mammalian Cells.

Darnell AM et al.

Molecular Cell, 2018

The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex.

Deng Y et al.

Human Molecular Genetics, 2018

Galectins Control mTOR in Response to Endomembrane Damage.

Jia J et al.

Molecular Cell, 2018

TRIM37 deficiency induces autophagy through deregulating the MTORC1-TFEB axis.

Wang W et al.

Autophagy, 2018

Control of leucine-dependent mTORC1 pathway through chemical intervention of leucyl-tRNA synthetase and RagD interaction.

Kim JH et al.

Nature Communications, 2017

Lysosomal cholesterol activates mTORC1 via an SLC38A9-Niemann-Pick C1 signaling complex.

Castellano BM et al.

Science (new York, N.y.), 2017

SZT2 dictates GATOR control of mTORC1 signalling.

Peng M et al.

Nature, 2017

Multistep regulation of TFEB by MTORC1.

Vega-Rubin-de-Celis S et al.

Autophagy, 2017

Control of TSC2-Rheb signaling axis by arginine regulates mTORC1 activity.

Carroll B et al.

Elife, 2016

Disruption of the Rag-Ragulator Complex by c17orf59 Inhibits mTORC1.

Schweitzer LD et al.

Cell Reports, 2015

Metabolism. Lysosomal amino acid transporter SLC38A9 signals arginine sufficiency to mTORC1.

Wang S et al.

Science (new York, N.y.), 2015

The amino acid transporter SLC38A9 regulates MTORC1 and autophagy.

Jin M et al.

Autophagy, 2015

The Sestrins interact with GATOR2 to negatively regulate the amino-acid-sensing pathway upstream of mTORC1.

Chantranupong L et al.

Cell Reports, 2014

Sestrins function as guanine nucleotide dissociation inhibitors for Rag GTPases to control mTORC1 signaling.

Peng M et al.

Cell, 2014

REDD1 enhances protein phosphatase 2A-mediated dephosphorylation of Akt to repress mTORC1 signaling.

Dennis MD et al.

Science Signaling, 2014

Impairing the production of ribosomal RNA activates mammalian target of rapamycin complex 1 signalling and downstream translation factors.

Liu R et al.

Nucleic Acids Research, 2014

Amino acids activate mammalian target of rapamycin (mTOR) complex 1 without changing Rag GTPase guanyl nucleotide charging.

Oshiro N et al.

The Journal of Biological Chemistry, 2014

The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1.

Tsun ZY et al.

Molecular Cell, 2013

Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases.

Petit CS et al.

The Journal of Cell Biology, 2013

A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1.

Bar-Peled L et al.

Science (new York, N.y.), 2013

Metabolic stress controls mTORC1 lysosomal localization and dimerization by regulating the TTT-RUVBL1/2 complex.

Kim SG et al.

Molecular Cell, 2013

Ragulator is a GEF for the rag GTPases that signal amino acid levels to mTORC1.

Bar-Peled L et al.

Cell, 2012

Leucyl-tRNA synthetase is an intracellular leucine sensor for the mTORC1-signaling pathway.

Han JM et al.

Cell, 2012

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

Settembre C et al.

The Embo Journal, 2012

cAMP inhibits mammalian target of rapamycin complex-1 and -2 (mTORC1 and 2) by promoting complex dissociation and inhibiting mTOR kinase activity.

Xie J et al.

Cellular Signalling, 2011

mTORC1 senses lysosomal amino acids through an inside-out mechanism that requires the vacuolar H(+)-ATPase.

Zoncu R et al.

Science (new York, N.y.), 2011

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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."