Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.D69A
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SQSTM1

NM_003900.5:p.D69A

Associated Papers

Cancer-associated mutations in autophagy-related proteins analyzed in yeast and human cells.

Lei Y et al.

Autophagy, 2025

40017376 (PubMed )
Supplement: KAUP_A_2471142_SM8121.docx

The PB1 and the ZZ domain of the autophagy receptor p62/SQSTM1 regulate the interaction of p62/SQSTM1 with the autophagosome protein LC3B.

Alcober-Boquet L et al.

Protein Science : a Publication of the Protein Society, 2024

S-acylation of p62 promotes p62 droplet recruitment into autophagosomes in mammalian autophagy.

Huang X et al.

Molecular Cell, 2023

The selective autophagy adaptor p62/SQSTM1 forms phase condensates regulated by HSP27 that facilitate the clearance of damaged lysosomes via lysophagy.

Gallagher ER et al.

Cell Reports, 2023

Enhanced liquidity of p62 droplets mediated by Smurf1 links Nrf2 activation and autophagy.

Xia Q et al.

Cell & Bioscience, 2023

Autophagy deficiency activates rDNA transcription.

Xu Y et al.

Autophagy, 2022

Vault RNA1-1 riboregulates the autophagic function of p62 by binding to lysine 7 and arginine 21, both of which are critical for p62 oligomerization.

Büscher M et al.

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

35210358 (PubMed )
Supplement: supp_079129.122_Supplemental_Figures_and_Tables.docx

TRIM44 links the UPS to SQSTM1/p62-dependent aggrephagy and removing misfolded proteins.

Lyu L et al.

Autophagy, 2022

Structure and function of p62/SQSTM1 in the emerging framework of phase separation.

Berkamp S et al.

The Febs Journal, 2021

p62 overexpression induces TDP-43 cytoplasmic mislocalisation, aggregation and cleavage and neuronal death.

Foster AD et al.

Scientific Reports, 2021

SQSTM1L341V variant that is linked to sporadic ALS exhibits impaired association with MAP1LC3 in cultured cells.

Nozaki M et al.

Eneurologicalsci, 2021

MOAP-1-mediated dissociation of p62/SQSTM1 bodies releases Keap1 and suppresses Nrf2 signaling.

Tan CT et al.

Embo Reports, 2021

p62/SQSTM1-droplet serves as a platform for autophagosome formation and anti-oxidative stress response.

Kageyama S et al.

Nature Communications, 2021

The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.

Foster AD et al.

Neural Regeneration Research, 2020

NBR1-mediated p62-liquid droplets enhance the Keap1-Nrf2 system.

Sánchez-Martín P et al.

Embo Reports, 2020

NIMA-related kinase 9-mediated phosphorylation of the microtubule-associated LC3B protein at Thr-50 suppresses selective autophagy of p62/sequestosome 1.

Shrestha BK et al.

The Journal of Biological Chemistry, 2020

Structural basis of p62/SQSTM1 helical filaments and their role in cellular cargo uptake.

Jakobi AJ et al.

Nature Communications, 2020

Requirement for p62 acetylation in the aggregation of ubiquitylated proteins under nutrient stress.

You Z et al.

Nature Communications, 2019

TRIM32, but not its muscular dystrophy-associated mutant, positively regulates and is targeted to autophagic degradation by p62/SQSTM1.

Overå KS et al.

Journal of Cell Science, 2019

Oligomer Model of PB1 Domain of p62/SQSTM1 Based on Crystal Structure of Homo-Dimer and Calculation of Helical Characteristics.

Lim D et al.

Molecules and Cells, 2019

Cytoplasmic DAXX drives SQSTM1/p62 phase condensation to activate Nrf2-mediated stress response.

Yang Y et al.

Nature Communications, 2019

31434890 (PubMed )
Supplement: 41467_2019_11671_MOESM1_ESM.pdf

p62-mediated Selective autophagy endows virus-transformed cells with insusceptibility to DNA damage under oxidative stress.

Wang L et al.

Plos Pathogens, 2019

pH-dependent regulation of SQSTM1/p62 during autophagy.

Kwon DH et al.

Autophagy, 2019

PB1 and UBA domains of p62 are essential for aggresome-like induced structure formation.

Cabe M et al.

Biochemical and Biophysical Research Communications, 2018

Insights into degradation mechanism of N-end rule substrates by p62/SQSTM1 autophagy adapter.

Kwon DH et al.

Nature Communications, 2018

Negative Regulation of the Keap1-Nrf2 Pathway by a p62/Sqstm1 Splicing Variant.

Kageyama S et al.

Molecular and Cellular Biology, 2018

USP14 regulates DNA damage repair by targeting RNF168-dependent ubiquitination.

Sharma A et al.

Autophagy, 2018

The HECT E3 ubiquitin ligase NEDD4 interacts with and ubiquitylates SQSTM1 for inclusion body autophagy.

Lin Q et al.

Journal of Cell Science, 2017

p62/SQSTM1/Sequestosome-1 is an N-recognin of the N-end rule pathway which modulates autophagosome biogenesis.

Cha-Molstad H et al.

Nature Communications, 2017

Repair, Reuse, Recycle: The Expanding Role of Autophagy in Genome Maintenance.

Hewitt G et al.

Trends in Cell Biology, 2017

Ubiquitylation of p62/sequestosome1 activates its autophagy receptor function and controls selective autophagy upon ubiquitin stress.

Peng H et al.

Cell Research, 2017

Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination.

Lee Y et al.

Cell Reports, 2017

Autophagy substrate SQSTM1/p62 regulates chromatin ubiquitination during the DNA damage response.

Wang Y et al.

Autophagy, 2017

Autophagy Regulates Chromatin Ubiquitination in DNA Damage Response through Elimination of SQSTM1/p62.

Wang Y et al.

Molecular Cell, 2016

Parkin promotes proteasomal degradation of p62: implication of selective vulnerability of neuronal cells in the pathogenesis of Parkinson's disease.

Song P et al.

Protein & Cell, 2016

26746706 (PubMed )
Supplement: 13238_2015_230_MOESM1_ESM.pdf

Autophagy regulates DNA repair by modulating histone ubiquitination.

Wang Y et al.

Molecular & Cellular Oncology, 2016

Amino Acid Activation of mTORC1 by a PB1-Domain-Driven Kinase Complex Cascade.

Linares JF et al.

Cell Reports, 2015

The Wnt Signaling Antagonist Dapper1 Accelerates Dishevelled2 Degradation via Promoting Its Ubiquitination and Aggregate-induced Autophagy.

Ma B et al.

The Journal of Biological Chemistry, 2015

PKA phosphorylation of p62/SQSTM1 regulates PB1 domain interaction partner binding.

Christian F et al.

Biochimica Et Biophysica Acta, 2014

Structural and biochemical insights into the homotypic PB1-PB1 complex between PKCζ and p62.

Ren J et al.

Science China. Life Sciences, 2014

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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."