Varaico: Literature-Extracted Genetic Variants

Gene:OTULIN
Variant:p.P43P
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OTULIN

NM_138348.6:p.P43P

Associated Papers

M1-linked ubiquitination by LUBAC regulates AMPK signalling and the response to energetic stress.

Elbæk CR et al.

Cell Death and Differentiation, 2026

Linear ubiquitination triggers Amph-mediated T-tubule biogenesis.

Kawaguchi K et al.

Science Advances, 2026

Monogenic disorders of the TNF signalling pathway.

Lalaoui N et al.

Nature Reviews. Rheumatology, 2026

Spatiotemporal Regulation of STING Activity by Linear Ubiquitination Governs Antiviral Immunity.

Zhang Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

Linear ubiquitination at damaged lysosomes induces local NFKB activation and controls cell survival.

Zein L et al.

Autophagy, 2025

OTULIN-related conditions: Report of a new case and review of the literature using GenIA.

Caballero-Oteyza A et al.

Clinical Immunology (orlando, Fla.), 2024

Dominant negative OTULIN-related autoinflammatory syndrome.

Davidson S et al.

The Journal of Experimental Medicine, 2024

A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.

Takeda Y et al.

The Journal of Experimental Medicine, 2024

Systematic HOIP interactome profiling reveals critical roles of linear ubiquitination in tissue homeostasis.

Fu Y et al.

Nature Communications, 2024

OTULIN-related conditions: Report of a new case and review of the literature using GenIA.

Caballero-Oteyza A et al.

Research Square, 2024

OTULIN deficiency: focus on innate immune system impairment.

Dou B et al.

Frontiers in Immunology, 2024

Innate and adaptive immune abnormalities underlying autoimmune diseases: the genetic connections.

Chi X et al.

Science China. Life Sciences, 2023

Ubiquitin-binding domain in ABIN1 is critical for regulating cell death and inflammation during development.

Li M et al.

Cell Death and Differentiation, 2022

Structural basis for the dual catalytic activity of the Legionella pneumophila ovarian tumor (OTU) domain deubiquitinase LotA.

Luo J et al.

The Journal of Biological Chemistry, 2022

Linear ubiquitination of PTEN impairs its function to promote prostate cancer progression.

Guo Y et al.

Oncogene, 2022

Substrate-assisted activation and selectivity of the bacterial RavD effector deubiquitinylase.

Schulze-Niemand E et al.

Proteins, 2022

Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS.

Zinngrebe J et al.

Embo Molecular Medicine, 2022

Deubiquitination of proteasome subunits by OTULIN regulates type I IFN production.

Tao P et al.

Science Advances, 2021

Mechanism of activation and regulation of deubiquitinase activity in MINDY1 and MINDY2.

Abdul Rehman SA et al.

Molecular Cell, 2021

34529927 (PubMed )
Supplement: mmc1.pdf

OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity.

Hoste E et al.

Nature Communications, 2021

OTULIN allies with LUBAC to govern angiogenesis by editing ALK1 linear polyubiquitin.

Fu Y et al.

Molecular Cell, 2021

Ubiquitin-dependent and -independent functions of OTULIN in cell fate control and beyond.

Weinelt N et al.

Cell Death and Differentiation, 2021

The Met1-linked ubiquitin machinery in inflammation and infection.

Fiil BK et al.

Cell Death and Differentiation, 2021

Site-specific ubiquitination of the E3 ligase HOIP regulates apoptosis and immune signaling.

Fennell LM et al.

The Embo Journal, 2020

Linear Ubiquitin Code: Its Writer, Erasers, Decoders, Inhibitors, and Implications in Disorders.

Oikawa D et al.

International Journal of Molecular Sciences, 2020

Regulation of the endosomal SNX27-retromer by OTULIN.

Stangl A et al.

Nature Communications, 2019

Identification and Characterization of Mutations in Ubiquitin Required for Non-covalent Dimer Formation.

Gabrielsen M et al.

Structure (london, England : 1993), 2019

A protein quality control pathway regulated by linear ubiquitination.

van Well EM et al.

The Embo Journal, 2019

OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death.

Damgaard RB et al.

Embo Molecular Medicine, 2019

Active site alanine mutations convert deubiquitinases into high-affinity ubiquitin-binding proteins.

Morrow ME et al.

Embo Reports, 2018

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Damgaard RB et al.

Cell, 2016

Phosphorylation by PINK1 releases the UBL domain and initializes the conformational opening of the E3 ubiquitin ligase Parkin.

Caulfield TR et al.

Plos Computational Biology, 2014

25375667 (PubMed )
Supplement: pcbi.1003935.s019.docx

Molecular basis and regulation of OTULIN-LUBAC interaction.

Elliott PR et al.

Molecular Cell, 2014

OTULIN restricts Met1-linked ubiquitination to control innate immune signaling.

Fiil BK et al.

Molecular Cell, 2013

The linear ubiquitin-specific deubiquitinase gumby regulates angiogenesis.

Rivkin E et al.

Nature, 2013

OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1-linked polyubiquitin.

Keusekotten K et al.

Cell, 2013

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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."