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Disease on EC 6.1.1.17 - glutamate-tRNA ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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
Development of PET and SPECT probes for glutamate receptors.
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
[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).
Cerebral Palsy
Glutamate receptors: the cause or cure in perinatal white matter injury?
Down Syndrome
Regulation of glutamate receptor RNA editing and ADAR mRNA expression in developing human normal and Down's syndrome brains.
Drug Resistant Epilepsy
Case Report.
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.
Effects of Spider Venom Toxin PWTX-I (6-Hydroxytrypargine) on the Central Nervous System of Rats.
Potential target sites in peripheral tissues for excitatory neurotransmission and excitotoxicity.
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.
Factors contributing to neuronal degeneration in retinas of experimental glaucomatous rats.
glutamate-trna ligase deficiency
Case Report.
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
Hodgkin Disease
[Antibodies to the glutamate receptor].
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.
Spinal metabotropic glutamate receptor 4 is involved in neuropathic pain.
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.
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.
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
Case Report.
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures.
Progressive microcephaly is caused by compound-heterozygous mutations in QARS.
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
[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.
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.
Glutamate and its receptors in cancer.
Protein kinase C phosphorylates glutamyl-tRNA synthetase in rabbit reticulocytes stimulated by tumor promoting phorbol esters.
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.
Nervous System Diseases
Development of PET and SPECT probes for glutamate receptors.
Neuralgia
Influence of amygdaloid glutamatergic receptors on sensory and emotional pain-related behavior in the neuropathic rat.
Mammalian target of rapamycin signaling pathway is involved in synaptic plasticity of the spinal dorsal horn and neuropathic pain in rats by regulating autophagy.
Spinal metabotropic glutamate receptor 4 is involved in neuropathic pain.
Neuroblastoma
Expression of N-methyl-D-aspartate (NMDA) and non-NMDA glutamate receptor genes in neuroblastoma, medulloblastoma, and other cells lines.
Neurodegenerative Diseases
Case Report.
Potential target sites in peripheral tissues for excitatory neurotransmission and excitotoxicity.
Structure-based functional design of chemical ligands for AMPA-subtype glutamate receptors.
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
Case Report.
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures.
Progressive microcephaly is caused by compound-heterozygous mutations in QARS.
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
Stroke
Glutamate receptors and white matter 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.