Disease on EC 6.1.1.17 - glutamate-tRNA ligase
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Acidosis, Lactic
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
Amblyopia
[Effects of monocular visual deprivation on parameters of GLuRs in visual cortex in developing kittens]
Amyotrophic Lateral Sclerosis
Potential target sites in peripheral tissues for excitatory neurotransmission and excitotoxicity.
Arthritis
AMPA/kainate glutamate receptors contribute to inflammation, degeneration and pain related behaviour in inflammatory stages of arthritis.
Brain Diseases
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
Brain Diseases
[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
Carcinoma
Absence of antibodies to non-NMDA glutamate-receptor subunits in paraneoplastic cerebellar degeneration.
Cardiomyopathies
Cloning and characterization of glutamate receptors in Californian sea lions (Zalophus californianus).
Down Syndrome
Regulation of glutamate receptor RNA editing and ADAR mRNA expression in developing human normal and Down's syndrome brains.
Epilepsy
Dual-Targeted Autoimmune Sword in Fatal Epilepsy: Patient's glutamate receptor AMPA GluR3B peptide autoimmune antibodies bind, induce Reactive Oxygen Species (ROS) in, and kill both human neural cells and T cells.
Epilepsy
Effects of Spider Venom Toxin PWTX-I (6-Hydroxytrypargine) on the Central Nervous System of Rats.
Epilepsy
Potential target sites in peripheral tissues for excitatory neurotransmission and excitotoxicity.
Epilepsy
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
Glaucoma
Acetylcholine protection of adult pig retinal ganglion cells from glutamate-induced excitotoxicity.
Glaucoma
Factors contributing to neuronal degeneration in retinas of experimental glaucomatous rats.
glutamate-trna ligase deficiency
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
glutamate-trna ligase deficiency
[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
Hyperalgesia
Capsaicin-induced glutamate release is implicated in nociceptive processing through activation of ionotropic glutamate receptors and group I metabotropic glutamate receptor in primary afferent fibers.
Hypoglycemia
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
Intellectual Disability
Drosophila fragile X mental retardation protein and metabotropic glutamate receptor A convergently regulate the synaptic ratio of ionotropic glutamate receptor subclasses.
Leukoencephalopathies
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
Leukoencephalopathies
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.
Leukoencephalopathies
Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.
Medulloblastoma
Expression of N-methyl-D-aspartate (NMDA) and non-NMDA glutamate receptor genes in neuroblastoma, medulloblastoma, and other cells lines.
Microcephaly
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures.
Microcephaly
Progressive microcephaly is caused by compound-heterozygous mutations in QARS.
Microcephaly
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
Microcephaly
[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
Mitochondrial Diseases
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
Mitochondrial Diseases
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.
Muscle Hypotonia
[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
Neoplasms
Absence of antibodies to non-NMDA glutamate-receptor subunits in paraneoplastic cerebellar degeneration.
Neoplasms
Protein kinase C phosphorylates glutamyl-tRNA synthetase in rabbit reticulocytes stimulated by tumor promoting phorbol esters.
Neoplasms
The neurotransmitter glutamate and human T cells: glutamate receptors and glutamate-induced direct and potent effects on normal human T cells, cancerous human leukemia and lymphoma T cells, and autoimmune human T cells.
Neuralgia
Influence of amygdaloid glutamatergic receptors on sensory and emotional pain-related behavior in the neuropathic rat.
Neuralgia
Mammalian target of rapamycin signaling pathway is involved in synaptic plasticity of the spinal dorsal horn and neuropathic pain in rats by regulating autophagy.
Neuroblastoma
Expression of N-methyl-D-aspartate (NMDA) and non-NMDA glutamate receptor genes in neuroblastoma, medulloblastoma, and other cells lines.
Neurodegenerative Diseases
Potential target sites in peripheral tissues for excitatory neurotransmission and excitotoxicity.
Neurodegenerative Diseases
Structure-based functional design of chemical ligands for AMPA-subtype glutamate receptors.
Neurodegenerative Diseases
Structure-based rational design of chemical ligands for AMPA-subtype glutamate receptors.
Pneumococcal Infections
Protection against pneumococcal infection elicited by immunization with glutamyl tRNA synthetase, polyamine transport protein D and sortase A.
Seizures
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures.
Seizures
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
Stroke
Potential target sites in peripheral tissues for excitatory neurotransmission and excitotoxicity.
Teratoma
Expression of various glutamate receptors including N-methyl-D-aspartate receptor (NMDAR) in an ovarian teratoma removed from a young woman with anti-NMDAR encephalitis.
Tuberculosis
Kinetic and mechanistic characterization of Mycobacterium tuberculosis glutamyl-tRNA synthetase and determination of its oligomeric structure in solution.
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