Associated Papers
Monogenic disorders of the TNF signalling pathway.
Lalaoui N et al.
Nature Reviews. Rheumatology, 2026
Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency.
van der Linden TJ et al.
Journal of Human Immunity, 2025
OTULIN-Related Autoinflammatory Syndrome With a Novel Mutation Treated With Tumor Necrosis Factor Inhibitor Therapy: A Rare Case Report.
Güngörer V et al.
The Journal of Rheumatology, 2025
Expanding the phenotypic and genetic spectrum of ORAS with novel homozygous variant in OTULIN gene: a case series and literature review.
AlSaleem A et al.
Pediatric Rheumatology Online Journal, 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
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
Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations.
Gezgin Y et al.
Molecular Biology Reports, 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
OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity.
Hoste E et al.
Nature Communications, 2021
Ubiquitin-dependent and -independent functions of OTULIN in cell fate control and beyond.
Weinelt N et al.
Cell Death and Differentiation, 2021
Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.
Jahan AS et al.
Cell Death and Differentiation, 2021
Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A).
Chen D et al.
Stem Cell Research, 2020
Regulation of the endosomal SNX27-retromer by OTULIN.
Stangl A et al.
Nature Communications, 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
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.
Nabavi M et al.
Journal of Clinical Immunology, 2019
An Update on Autoinflammatory Diseases: Relopathies.
Steiner A et al.
Current Rheumatology Reports, 2018
The Met1-Linked Ubiquitin Machinery: Emerging Themes of (De)regulation.
Hrdinka M et al.
Molecular Cell, 2017
Linear ubiquitin chains: enzymes, mechanisms and biology.
Rittinger K et al.
Open Biology, 2017
OTULIN deficiency causes auto-inflammatory syndrome.
Fiil BK et al.
Cell Research, 2016
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
Zhou Q et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.
Damgaard RB et al.
Cell, 2016