ArticleFEBS letters2014
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.
Article in FEBS letters, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- Review
- NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.Current rheumatology reports · 2026Review
- Mechanisms outpacing medicine in autoinflammatory diseases.Frontiers in immunology · 2026Review
- Immunological analysis of Blau syndrome, a unique autoinflammatory state.Frontiers in immunology · 2026Review
- Exploring the role of NOD2 variants in pediatric undifferentiated recurrent fever: a clinical and functional perspective.Frontiers in immunology · 2025Article
- NOD1 and NOD2: Essential Monitoring Partners in the Innate Immune System.Current issues in molecular biology · 2024Review
- Proteomic Profiling of Tears in Blau Syndrome Patients in Identification of Potential Disease Biomarkers.International journal of molecular sciences · 2024Article
- Biologics and JAK inhibitors for the treatment of monogenic systemic autoinflammatory diseases in children.The Journal of allergy and clinical immunology · 2023Review
- Multifaceted roles and regulation of nucleotide-binding oligomerization domain containing proteins.Frontiers in immunology · 2023Review
- Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.Pediatric rheumatology online journal · 2022Article
- Palmitoylation restricts SQSTM1/p62-mediated autophagic degradation of NOD2 to modulate inflammation.Cell death and differentiation · 2022Article
- Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.Journal, genetic engineering & biotechnology · 2021Article
- Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.American journal of ophthalmology · 2021Article
- NOD1 and NOD2 in inflammatory and infectious diseases.Immunological reviews · 2020Review
- Supramolecular Complexes in Cell Death and Inflammation and Their Regulation by Autophagy.Frontiers in cell and developmental biology · 2019Review
- Crystal structure of NOD2 and its implications in human disease.Nature communications · 2016Article
- Genetics of inflammatory bowel disease from multifactorial to monogenic forms.World journal of gastroenterology · 2015Review
- Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.Human molecular genetics · 2015Article
- Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.Current opinion in immunology · 2015Review
- Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association.Frontiers in immunology · 2015Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Understanding how single nucleotide polymorphisms (SNPs) lead to disease at a molecular level provides a starting point for improved therapeutic intervention. SNPs in the innate immune receptor nucleotide oligomerisation domain 2 (NOD2) can cause the inflammatory disorders Blau Syndrome (BS) and early onset sarcoidosis (EOS) through receptor hyperactivation. Here, we show that these polymorphisms cluster into two primary locations: the ATP/Mg(2+)-binding site and helical domain 1. Polymorphisms in these two locations may consequently dysregulate ATP hydrolysis and NOD2 autoinhibition, respectively. Complementary mutations in NOD1 did not mirror the NOD2 phenotype, which indicates that NOD1 and NOD2 are activated and regulated by distinct methods.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.