LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages

Juvenile arthritis represents the most common rheumatic manifestation in children. LACC1 deficiency has been identified as a monogenic cause of juvenile arthritis. In this issue, Omarjee et al. demonstrate a new role of LACC1 in autophagy and metabolism in macrophages.

• Publication year

  2021

• Venue

  Journal of Experimental Medicine

• Publication date

  2021-02-19

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1084/jem.20201006PMID 33606008PMCID 7901146
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2020cited by this paper
• Microtubule Associated Protein

  2020cited by this paper
• FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle

  2020cited by this paper
• LACC1 Required for NOD2-Induced, ER Stress-Mediated Innate Immune Outcomes in Human Macrophages and LACC1 Risk Variants Modulate These Outcomes.

  2019cited by this paper
• Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

  2019cited by this paper
• Comparison of RT‐qPCR and Nanostring in the measurement of blood interferon response for the diagnosis of type I interferonopathies

  2019cited by this paper
• Biological Functions of Autophagy Genes: A Disease Perspective.

  2019cited by this paper
• Alpinetin improves intestinal barrier homeostasis via regulating AhR/suv39h1/TSC2/mTORC1/autophagy pathway.

  2019cited by this paper
• LACC1 Regulates TNF and IL-17 in Mouse Models of Arthritis and Inflammation

  2018influential reference
• LACC1 Gene Defects in Familial Form of Juvenile Arthritis

  2018cited by this paper
• An Update on Autoinflammatory Diseases: Relopathies

  2018cited by this paper
• An Update on Autoinflammatory Diseases: Inflammasomopathies

  2018cited by this paper
• WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

  2017cited by this paper
• Critical roles of mTORC1 signaling and metabolic reprogramming for M-CSF–mediated myelopoiesis

  2017cited by this paper
• Human LACC1 increases innate receptor-induced responses and a LACC1 disease-risk variant modulates these outcomes

  2017cited by this paper
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  2017cited by this paper
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  2017cited by this paper
• Role of autophagy in the pathogenesis of inflammatory bowel disease

  2017cited by this paper
• Immunopathogenesis of Rheumatoid Arthritis.

  2017cited by this paper
• DGAT1-Dependent Lipid Droplet Biogenesis Protects Mitochondrial Function during Starvation-Induced Autophagy.

  2017cited by this paper
• Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course

  2016cited by this paper
• LACC1 polymorphisms in inflammatory bowel disease and juvenile idiopathic arthritis

  2016cited by this paper
• RACK1 Is an Interaction Partner of ATG5 and a Novel Regulator of Autophagy*

  2016cited by this paper
• Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

  2016cited by this paper
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  2016cited by this paper
• C13orf31 (FAMIN) is a central regulator of immunometabolic function

  2016influential reference
• Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis

  2015cited by this paper
• RACK1 Promotes Autophagy by Enhancing the Atg14L-Beclin 1-Vps34-Vps15 Complex Formation upon Phosphorylation by AMPK.

  2015cited by this paper
• Immunogenetics of juvenile idiopathic arthritis: A comprehensive review.

  2015cited by this paper
• Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance

  2015cited by this paper
• IRGM governs the core autophagy machinery to conduct antimicrobial defense.

  2015cited by this paper
• Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles

  2014cited by this paper
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  2014cited by this paper
• Synovial phenotypes in rheumatoid arthritis correlate with response to biologic therapeutics

  2014cited by this paper
• Autophagy regulates phagocytosis by modulating the expression of scavenger receptors.

  2013cited by this paper
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  2013cited by this paper
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  2012cited by this paper
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  2012cited by this paper
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  2012cited by this paper
• Defining GM-CSF– and Macrophage-CSF–Dependent Macrophage Responses by In Vitro Models

  2012cited by this paper
• Autophagy attenuates the adaptive immune response by destabilizing the immunologic synapse.

  2012cited by this paper
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  2012cited by this paper
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  2011cited by this paper
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  2011cited by this paper
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  2011cited by this paper
• Microtubule-associated protein 1 light chain 3 alpha (LC3)-associated phagocytosis is required for the efficient clearance of dead cells

  2011cited by this paper
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  2010cited by this paper
• Mammalian target of rapamycin signaling is crucial for joint destruction in experimental arthritis and is activated in osteoclasts from patients with rheumatoid arthritis.

  2010cited by this paper
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  2010cited by this paper
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  2010cited by this paper
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  2010cited by this paper
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  2010cited by this paper
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  2009cited by this paper
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  2009cited by this paper
• Colony-stimulating factor-1-induced oscillations in phosphatidylinositol-3 kinase/AKT are required for caspase activation in monocytes undergoing differentiation into macrophages.

  2009cited by this paper
• Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

  2008cited by this paper
• Loss of the autophagy protein Atg16L1 enhances endotoxin-induced IL-1β production

  2008influential reference
• Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn’s disease

  2007cited by this paper
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  2005cited by this paper
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  2004cited by this paper
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  1996cited by this paper

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