Disease on EC 6.1.1.22 - asparagine-tRNA ligase
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DISEASE 
TITLE OF PUBLICATION
LINK TO PUBMED
Alzheimer Disease
Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2 Expression in Human Brain Tissues.
Ataxia
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Autoimmune Diseases
Unique N-terminal extension domain of human asparaginyl-tRNA synthetase elicits CCR3-mediated chemokine activity.
Carcinogenesis
Asparaginyl-tRNA Synthetase, a Novel Component of Hippo Signaling, Binds to Salvador and Enhances Yorkie-Mediated Tumorigenesis.
Cataract
Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract.
Central Nervous System Diseases
The phenotypic variability and natural history of NARS2 associated disease.
Colitis
Nematode asparaginyl-tRNA synthetase resolves intestinal inflammation in mice with T-cell transfer colitis.
Deafness
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Diffuse Cerebral Sclerosis of Schilder
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.
Diffuse Cerebral Sclerosis of Schilder
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Diffuse Cerebral Sclerosis of Schilder
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
Elephantiasis, Filarial
Brugia malayi Asparaginyl - tRNA Synthetase Stimulates Endothelial Cell Proliferation, Vasodilation and Angiogenesis.
Elephantiasis, Filarial
Expression, localization and alternative function of cytoplasmic asparaginyl-tRNA synthetase in Brugia malayi.
Elephantiasis, Filarial
Immune Response to Brugia malayi Asparaginyl-tRNA Synthetase in Balb/c Mice and Human Clinical Samples of Lymphatic Filariasis.
Elephantiasis, Filarial
Tirandamycins from Streptomyces sp. 17944 Inhibiting the Parasite Brugia malayi Asparagine tRNA Synthetase.
Epilepsy
Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.
Epilepsy
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.
Filariasis
Virtual screening of traditional Chinese medicine (TCM) database: identification of fragment-like lead molecules for filariasis target asparaginyl-tRNA synthetase.
Hallux Valgus
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
Hearing Loss
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Intellectual Disability
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Leigh Disease
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Lung Diseases, Interstitial
Anti-KS: identification of autoantibodies to asparaginyl-transfer RNA synthetase associated with interstitial lung disease.
Microcephaly
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Mitochondrial Diseases
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
Mitral Valve Prolapse
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
Myositis
Do tissue levels of autoantigenic aminoacyl-tRNA synthetase predict clinical disease?
Myositis
Histidyl-tRNA synthetase and asparaginyl-tRNA synthetase, autoantigens in myositis, activate chemokine receptors on T lymphocytes and immature dendritic cells.
Neoplasms
Identification of hub genes and key pathways associated with the progression of gynecological cancer.
Neurodegenerative Diseases
Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Neurodegenerative Diseases
Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.
Neurodegenerative Diseases
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.
Neurodegenerative Diseases
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Osteoarthropathy, Secondary Hypertrophic
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
Paraplegia
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.
Peripheral Nervous System Diseases
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Seizures
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Status Epilepticus
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.
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