Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity (Q24655886)

Aicardi-Goutieres syndrome

Europe PubMed Central

title

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity (English)

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main subject

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2

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Yanick J. Crow

object named as

Yanick J Crow

series ordinal

1

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language of work or name

English

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publication date

15 October 2009

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published in

Human Molecular Genetics

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volume

18

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page(s)

R130-6

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issue

R2

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cites work

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

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Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

7 April 2017

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An orthogonal proteomic-genomic screen identifies AIM2 as a cytoplasmic DNA sensor for the inflammasome

7 April 2017

1 reference

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AIM2 activates the inflammasome and cell death in response to cytoplasmic DNA

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

AIM2 recognizes cytosolic dsDNA and forms a caspase-1-activating inflammasome with ASC

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex

7 April 2017

1 reference

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Trex1 prevents cell-intrinsic initiation of autoimmunity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

7 April 2017

1 reference

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DAI (DLM-1/ZBP1) is a cytosolic DNA sensor and an activator of innate immune response

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells

7 April 2017

1 reference

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A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein

7 April 2017

1 reference

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Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Structural insight into the mechanism of substrate specificity and catalytic activity of an HD-domain phosphohydrolase: the 5'-deoxyribonucleotidase YfbR from Escherichia coli

7 April 2017

1 reference

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Structure of the dimeric exonuclease TREX1 in complex with DNA displays a proline-rich binding site for WW Domains

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

RIG-I-mediated antiviral responses to single-stranded RNA bearing 5'-phosphates

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Shape-specific recognition in the structure of the Vts1p SAM domain with RNA.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

RNase H2 of Saccharomyces cerevisiae is a complex of three proteins

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

7 April 2017

The many faces of SAM

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Mutation of DNASE1 in people with systemic lupus erythematosus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

HIN-200 proteins regulate caspase activation in response to foreign cytoplasmic DNA

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Cloning and characterization of a novel cDNA that is IFN-gamma-induced in mouse peritoneal macrophages and encodes a putative GTP-binding protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

The inflammasome: a caspase-1-activation platform that regulates immune responses and disease pathogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Plasmacytoid dendritic cells sense self-DNA coupled with antimicrobial peptide

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Toll-like receptor 9-dependent activation by DNA-containing immune complexes is mediated by HMGB1 and RAGE

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Recognition of cytosolic DNA activates an IRF3-dependent innate immune response

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

The NLRP3 inflammasome mediates in vivo innate immunity to influenza A virus through recognition of viral RNA.

7 April 2017

1 reference

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Ribonuclease H: the enzymes in eukaryotes

28 September 2017

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RNA recognition and signal transduction by RIG-I-like receptors

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Inhibition of G1P3 expression found in the differential display study on respiratory syncytial virus infection

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Dendritic cell-derived interferon-gamma-induced protein mediates tumor necrosis factor-alpha stimulation of human lung fibroblasts

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

The innate immune system in SLE: type I interferons and dendritic cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Complement deficiencies and systemic lupus erythematosus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Type I interferon in systemic lupus erythematosus.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Innate recognition of viruses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Adenovirus infection triggers a rapid, MyD88-regulated transcriptome response critical to acute-phase and adaptive immune responses in vivo

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Antiviral defense: interferons and beyond

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Autoreactive B cell responses to RNA-related antigens due to TLR7 gene duplication

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Virus infection switches TLR-3-positive human neurons to become strong producers of beta interferon

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Bacillus subtilis YhaM, a member of a new family of 3'-to-5' exonucleases in gram-positive bacteria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Familial systemic lupus erythematosus and congenital infection-like syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Cloning, subcellular localization and functional expression of human RNase HII.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

The HD domain defines a new superfamily of metal-dependent phosphohydrolases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Junction ribonuclease: an activity in Okazaki fragment processing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Overexpression of RNase H partially complements the growth defect of an Escherichia coli delta topA mutant: R-loop formation is a major problem in the absence of DNA topoisomerase I

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Intrathecal synthesis of different alpha-interferons in patients with various neurological diseases.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP293

Genetic syndromes mimic congenital infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP293

Nucleic acid by-products and chronic inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP293

Intracellular localization of Toll-like receptor 9 prevents recognition of self DNA but facilitates access to viral DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP293

Fen1 mutations result in autoimmunity, chronic inflammation and cancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP293

Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutières syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Systemic Lupus Erythematosus or Aicardi-Goutières Syndrome?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2758706

Chronic polyarthritis caused by mammalian DNA that escapes from degradation in macrophages

28 November 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP293

Ribonuclease H from K562 human erythroleukemia cells. Purification, characterization, and substrate specificity

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19808788

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Substrate specificity of human RNase H1 and its role in excision repair of ribose residues misincorporated in DNA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19808788

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDP293

1 reference

1741539

1741539

1 reference

1 reference

1 reference