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Disease on EC 6.1.1.12 - aspartate-tRNA ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Apnea
Provocation of aspiration reflexes and their effects on the pattern of cough and reflex apnea in cats.
arginine-trna ligase deficiency
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.
aspartate-trna ligase deficiency
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.
Loss of CLPP alleviates mitochondrial cardiomyopathy without affecting the mammalian UPRmt.
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.
Ataxia
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Carcinogenesis
Upregulation of DARS2 by HBV promotes hepatocarcinogenesis through the miR-30e-5p/MAPK/NFAT5 pathway.
Carcinoma, Hepatocellular
Upregulation of DARS2 by HBV promotes hepatocarcinogenesis through the miR-30e-5p/MAPK/NFAT5 pathway.
Cardiomyopathies
Loss of CLPP alleviates mitochondrial cardiomyopathy without affecting the mammalian UPRmt.
Cataract
Headache, cataract, and unilateral visual loss: unusual features of DARS2 variants in LBSL.
Cerebellar Ataxia
DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
Cough
Excitability and rhythmicity of tracheobronchial cough is altered by aspiration reflex in cats.
Provocation of aspiration reflexes and their effects on the pattern of cough and reflex apnea in cats.
Epilepsy
Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL).
Gait Ataxia
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
Hearing Loss
An acoustically evoked short latency negative response in profound hearing loss patients.
Infections
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
The genome and transcriptome of the zoonotic hookworm Ancylostoma ceylanicum identify infection-specific gene families.
Leukoencephalopathies
A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.
A New DARS2 Mutation Discovered in an Adult Patient.
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy.
DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis.
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL): A Case With Long-term Follow-up.
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation High Outcome Variation between Two Siblings.
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis.
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene.
Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.
Magnetic resonance imaging and genetic investigation of a case of rottweiler leukoencephalomyelopathy.
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL).
Mitochondrial syndromes with leukoencephalopathies.
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures.
Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption.
Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2.
Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL).
Reply: DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy.
Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy.
The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.
Malaria
Plasmodial aspartyl-tRNA synthetases and peculiarities in Plasmodium falciparum.
Melanoma
Current practice of patient follow-up after potentially curative resection of cutaneous melanoma.
Geographic variation in posttreatment surveillance intensity for patients with cutaneous melanoma.
How surgeon age affects post-treatment surveillance strategies for melanoma patients.
Mitochondrial Diseases
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.
Mitochondrial DNA homeostasis is essential for nigrostriatal integrity.
Tissue-Specific Loss of DARS2 Activates Stress Responses Independently of Respiratory Chain Deficiency in the Heart.
Multiple Sclerosis
DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis.
Muscle Spasticity
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.
Neoplasms
Using apelin-based synthetic Notch receptors to detect angiogenesis and treat solid tumors.
Nervous System Diseases
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
Neurodegenerative Diseases
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.
Neuroinflammatory Diseases
DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.
Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption.
Otitis Media
Natural insertion of the bro-1 ?-lactamase gene into the gatCAB operon affects Moraxella catarrhalis aspartyl-tRNAAsn amidotransferase activity.
pantoate-beta-alanine ligase (amp-forming) deficiency
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.
Paraparesis, Spastic
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis.
Respiratory Tract Infections
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
Shoulder Pain
The Health Status of Informal Waste Collectors in Korea.
Spastic Paraplegia, Hereditary
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
Tuberculosis
Identification and characterization of aspartyl-tRNA synthetase inhibitors against Mycobacterium tuberculosis by an integrated whole-cell target-based approach.