Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

High‐throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts

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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

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VDAC oligomers form mitochondrial pores to release mtDNA fragments and promote lupus-like disease

(2020) Jeonghan Kim et al.   SCIENCE

Mitochondrial DNA promotes autoimmunity

(2020) Mary K. Crow   SCIENCE

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

(2020) Alice Lepelley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome

(2020) Ilana Hanes et al.   Neurology-Genetics

TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS

(2020) Chien-Hsiung Yu et al.   CELL

Mitochondrial dysfunction caused by novel ATAD3A mutations

(2020) Nathalie Dorison et al.   MOLECULAR GENETICS AND METABOLISM

cGAS suppresses genomic instability as a decelerator of replication forks

(2020) Hao Chen et al.   Science Advances

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

(2020) Carolina Uggenti et al.   NATURE GENETICS

Self-Awareness: Nucleic Acid–Driven Inflammation and the Type I Interferonopathies

(2019) Carolina Uggenti et al.   Annual Review of Immunology

ATAD3A oligomerization causes neurodegeneration by coupling mitochondrial fragmentation and bioenergetics defects

(2019) Yuanyuan Zhao et al.   Nature Communications

Type I interferon dysregulation in Systemic Sclerosis

(2019) Brian Skaug et al.   CYTOKINE

Interferon regulatory factor 7 (IRF7) represents a link between inflammation and fibrosis in the pathogenesis of systemic sclerosis

(2019) Minghua Wu et al.   ANNALS OF THE RHEUMATIC DISEASES

GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

(2019) Elena López-Isac et al.   Nature Communications

Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease

(2019) Matthew J Bird et al.   Metabolites

Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities

(2019) Susana Peralta et al.   MOLECULAR GENETICS AND METABOLISM

Type I interferon in rheumatic diseases

(2018) Theresa L. Wampler Muskardin et al.   Nature Reviews Rheumatology

BAK/BAX macropores facilitate mitochondrial herniation and mtDNA efflux during apoptosis

(2018) Kate McArthur et al.   SCIENCE

Plasmacytoid dendritic cells promote systemic sclerosis with a key role for TLR8

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Mitochondrial inner membrane permeabilisation enables mtDNA release during apoptosis

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Mitochondrial double-stranded RNA triggers antiviral signalling in humans

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ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

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Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

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Importance of Nucleic Acid Recognition in Inflammation and Autoimmunity

(2016) Franck J. Barrat et al.   Annual Review of Medicine

Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

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The interferon type I signature is present in systemic sclerosis before overt fibrosis and might contribute to its pathogenesis through high BAFF gene expression and high collagen synthesis

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Targeting autophagy and mitophagy for mitochondrial diseases treatment

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Mitochondrial DNA stress primes the antiviral innate immune response

(2015) A. Phillip West et al.   NATURE

Brief Report:IFIH1Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency

(2015) Lien Van Eyck et al.   Arthritis & Rheumatology

Rapamycin attenuates mitochondrial dysfunction via activation of mitophagy in experimental ischemic stroke

(2014) Qiang Li et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Apoptotic Caspases Prevent the Induction of Type I Interferons by Mitochondrial DNA

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Mutations in ADAR1, IFIH1, and RNASEH2B Presenting As Spastic Paraplegia

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2013 Classification Criteria for Systemic Sclerosis: An American College of Rheumatology/European League Against Rheumatism Collaborative Initiative

(2013) Frank van den Hoogen et al.   ARTHRITIS AND RHEUMATISM

A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1

(2013) John H Livingston et al.   JOURNAL OF MEDICAL GENETICS

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

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Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis

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Understanding fibrosis in systemic sclerosis: shifting paradigms, emerging opportunities

(2011) Swati Bhattacharyya et al.   Nature Reviews Rheumatology

The AAA+ ATPase ATAD3A Controls Mitochondrial Dynamics at the Interface of the Inner and Outer Membranes

(2010) B. Gilquin et al.   MOLECULAR AND CELLULAR BIOLOGY

A role for mitochondria in NLRP3 inflammasome activation

(2010) Rongbin Zhou et al.   NATURE