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Disease on EC 6.1.1.21 - histidine-tRNA ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Arthritis, Rheumatoid
The potential role of human endogenous retrovirus K10 in the pathogenesis of rheumatoid arthritis: a preliminary study.
Ataxia
Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.
Autoimmune Diseases
Histidyl-tRNA synthetase.
Hodgkin's lymphoma in a patient with Jo-1 syndrome.
Isolation of monoclonal antibodies from anti-synthetase syndrome patients and affinity maturation by recombination of independent somatic variants.
Myositis autoantibody inhibits histidyl-tRNA synthetase: a model for autoimmunity.
[The Jo-1 Syndrome--immunological findings and clinical manifestations]
Carcinoma
Localization of histidyl-tRNA synthetase (Jo-1) in human laryngeal epithelial carcinoma cell line (HEp-2 cells).
Carcinoma, Hepatocellular
Human histidyl-tRNA synthetase: recognition of amino acid signature regions in class 2a aminoacyl-tRNA synthetases.
Charcot-Marie-Tooth Disease
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
CHARGE Syndrome
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Connective Tissue Diseases
The precipitating antibody to an acidic nuclear protein antigen, the Jo-1, in connective tissue diseases. A marker for a subset of polymyositis with interstitial pulmonary fibrosis.
What does it mean if a patient is positive for anti-Jo-1 in routine hospital practice? A retrospective nested case-control study.
Deafness
Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.
Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients.
Dengue
Designing a polytope for use in a broad-spectrum dengue virus vaccine.
Dermatomyositis
Association Between Autoantibody Phenotype and Cutaneous Adverse Reactions to Hydroxychloroquine in Dermatomyositis.
Histidyl-tRNA synthetase and asparaginyl-tRNA synthetase, autoantigens in myositis, activate chemokine receptors on T lymphocytes and immature dendritic cells.
Predominant TCR-alpha beta variable and joining gene expression by muscle-infiltrating lymphocytes in the idiopathic inflammatory myopathies.
Secreted histidyl-tRNA synthetase splice variants elaborate major epitopes for autoantibodies in inflammatory myositis.
Hearing Loss
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.
Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.
Hearing Loss, Sensorineural
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.
Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.
histidine-trna ligase deficiency
[High resolution CT of the lung in Jo-1 syndrome: rapidly progressive fibrosis as a sequela of histidyl-tRNA synthetase deficiency syndrome]
Intellectual Disability
Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.
Kallmann Syndrome
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Lung Diseases, Interstitial
Electron microscopy proves Jo-1 antigen to be predominantly cytoplasmic but also nuclear.
Novel conformation of histidyl-transfer RNA synthetase in the lung: the target tissue in Jo-1 autoantibody-associated myositis.
Role of Jo-1 in the Immunopathogenesis of the Anti-synthetase Syndrome.
Secreted histidyl-tRNA synthetase splice variants elaborate major epitopes for autoantibodies in inflammatory myositis.
Species-specific immune responses generated by histidyl-tRNA synthetase immunization are associated with muscle and lung inflammation.
Mandibulofacial Dysostosis
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Melanoma
Association Between Autoantibody Phenotype and Cutaneous Adverse Reactions to Hydroxychloroquine in Dermatomyositis.
Muscular Diseases
Myopathy with anti-Jo-1 antibodies: pathology in perimysium and neighbouring muscle fibres.
Myositis
7-Tesla magnetic resonance imaging precisely and noninvasively reflects inflammation and remodeling of the skeletal muscle in a mouse model of antisynthetase syndrome.
A motif in human histidyl-tRNA synthetase which is shared among several aminoacyl-tRNA synthetases is a coiled-coil that is essential for enzymatic activity and contains the major autoantigenic epitope.
Anti-Jo-1 autoantibodies and the immunopathogenesis of autoimmune myositis.
Characterization of TLR4-mediated auto-antibody production in a mouse model of histidyl-tRNA synthetase-induced myositis.
Electron microscopy proves Jo-1 antigen to be predominantly cytoplasmic but also nuclear.
Epitope mapping of the cloned human autoantigen, histidyl-tRNA synthetase. Analysis of the myositis-associated anti-Jo-1 autoimmune response.
Epitope studies indicate that histidyl-tRNA synthetase is a stimulating antigen in idiopathic myositis.
Histidyl tRNA synthetase: A key participant in idiopathic inflammatory myopathies.
Histidyl-transfer RNA synthetase: a key participant in idiopathic inflammatory myopathies.
Histidyl-tRNA synthetase and asparaginyl-tRNA synthetase, autoantigens in myositis, activate chemokine receptors on T lymphocytes and immature dendritic cells.
Histidyl-tRNA synthetase, the myositis Jo-1 antigen, is cytoplasmic and unassociated with the cytoskeletal framework.
Histidyl-tRNA synthetase.
HLA-D region genes associated with autoantibody responses to histidyl-transfer RNA synthetase (Jo-1) and other translation-related factors in myositis.
Improved detection of anti-Jo-1 antibody, a marker for myositis, using purified histidyl-tRNA synthetase.
Interaction of HLA-DRB1*03 and smoking for the development of anti-Jo-1 antibodies in adult idiopathic inflammatory myopathies: a European-wide case study.
Jo-1 autoantigen-specific B cells are skewed towards distinct functional B cell subsets in anti-synthetase syndrome patients.
Measurement of antibody to Jo-1 by ELISA and comparison to enzyme inhibitory activity.
Myositis autoantibody inhibits histidyl-tRNA synthetase: a model for autoimmunity.
Myositis induced by naked DNA immunization with the gene for histidyl-tRNA synthetase.
Myositis specific autoantibodies: changing insights in pathophysiology and clinical associations.
Novel conformation of histidyl-transfer RNA synthetase in the lung: the target tissue in Jo-1 autoantibody-associated myositis.
Origin and regulation of a disease-specific autoantibody response. Antigenic epitopes, spectrotype stability, and isotype restriction of anti-Jo-1 autoantibodies.
Oxidative stress-induced modifications of histidyl-tRNA synthetase affect its tRNA aminoacylation activity but not its immunoreactivity.
Polymyositis evolving after rhabdomyolysis associated with HMG-CoA reductase inhibitors: a report of two cases.
Pro-inflammatory histidyl-tRNA synthetase-specific CD4+ T cells in the blood and lung of patients with idiopathic inflammatory myopathies.
RENAL, HEPATIC AND IMMUNE FUNCTION INDICES IN PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY.
Role of innate immunity in a model of histidyl-tRNA synthetase (Jo-1)-mediated myositis.
Role of innate immunity in a murine model of histidyl-transfer RNA synthetase (Jo-1)-mediated myositis.
Role of Jo-1 in the Immunopathogenesis of the Anti-synthetase Syndrome.
Secreted histidyl-tRNA synthetase splice variants elaborate major epitopes for autoantibodies in inflammatory myositis.
What does it mean if a patient is positive for anti-Jo-1 in routine hospital practice? A retrospective nested case-control study.
[Idiopathic Inflammatory Myopathy and Anti-aminoacyl-tRNA Synthetase Antibody].
Neoplasms
Multidimensional degradomics identifies systemic autoantigens and intracellular matrix proteins as novel gelatinase B/MMP-9 substrates.
Nephritis, Hereditary
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Osteoarthritis
The potential role of human endogenous retrovirus K10 in the pathogenesis of rheumatoid arthritis: a preliminary study.
Peripheral Nervous System Diseases
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Pneumonia
Species-specific immune responses generated by histidyl-tRNA synthetase immunization are associated with muscle and lung inflammation.
Polymyositis
A patient with antihistidyl-tRNA synthetase positive polymyositis presenting as acute respiratory distress syndrome.
A probable role of an infectious agent in polymyositis associated with antibodies against histidyl-tRNA synthetase: antisynthetase syndrome.
Clinical and histological features of 'mechanic's hands' in a patient with antibodies to Jo-1--a case report.
Critical requirement for professional APCs in eliciting T cell responses to novel fragments of histidyl-tRNA synthetase (Jo-1) in Jo-1 antibody-positive polymyositis.
Histidyl-tRNA synthetase and asparaginyl-tRNA synthetase, autoantigens in myositis, activate chemokine receptors on T lymphocytes and immature dendritic cells.
Polymyositis and molecular mimicry, a mechanism of autoimmunity.
Predominant TCR-alpha beta variable and joining gene expression by muscle-infiltrating lymphocytes in the idiopathic inflammatory myopathies.
Purification of bovine liver histidyl-tRNA synthetase, the Jo-1 antigen of polymyositis: size of the whole enzyme and its characteristic proteolytic fragments.
Sequence homology between encephalomyocarditis virus protein VPI and histidyl-tRNA synthetase supports a hypothesis of molecular mimicry in polymyositis.
Stimulation and partial stabilization of human histidyl-tRNA synthetase by hemoglobin.
The role of an autoantigen, histidyl-tRNA synthetase, in the induction and maintenance of autoimmunity.
Primary Ovarian Insufficiency
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.
Pulmonary Disease, Chronic Obstructive
Dissociation between airway and systemic autoantibody responses in chronic obstructive pulmonary disease.
Respiratory Distress Syndrome
A patient with antihistidyl-tRNA synthetase positive polymyositis presenting as acute respiratory distress syndrome.
Rheumatic Fever
Histidyl-tRNA synthetase.
Sjogren's Syndrome
Prognostic value of auto-antibodies in the serum of Omani patients with gastric cancer.
Starvation
Dimerization is required for activation of eIF2 kinase Gcn2 in response to diverse environmental stress conditions.
Interaction between the tRNA-Binding and C-Terminal Domains of Yeast Gcn2 Regulates Kinase Activity In Vivo.
Mutations activating the yeast eIF-2 alpha kinase GCN2: isolation of alleles altering the domain related to histidyl-tRNA synthetases.
Role of idle ribosomes in the response of Chinese hamster ovary cells to depletion of histidyl-tRNA.
Uncharged tRNA activates GCN2 by displacing the protein kinase moiety from a bipartite tRNA-binding domain.
Stomach Neoplasms
Prognostic value of auto-antibodies in the serum of Omani patients with gastric cancer.
Usher Syndromes
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity.
Waardenburg Syndrome
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.