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Disease on EC 6.1.1.14 - glycine-tRNA ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Brain Neoplasms
Intracellular glycine receptor function facilitates glioma formation in vivo.
Breast Neoplasms
A proteomic approach based on multiple parallel separation for the unambiguous identification of an antibody cognate antigen.
Carcinogenesis
Secreted human glycyl-tRNA synthetase implicated in defense against ERK-activated tumorigenesis.
Charcot-Marie-Tooth Disease
A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D).
A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement.
A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V.
A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family.
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.
Cocrystal structures of glycyl-tRNA synthetase in complex with tRNA suggest multiple conformational states in glycylation.
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
GARS axonopathy: not every neuron's cup of tRNA.
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice.
Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular homeostasis.
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease.
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.
Dehydration
Hyperekplexia mutation of glycine receptors: decreased gating efficacy with altered binding thermodynamics.
Dermatomyositis
Autoantibodies to glycyl-transfer RNA synthetase in myositis. Association with dermatomyositis and immunologic heterogeneity.
Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis.
Encephalomyelitis
Systemic delivery of human GlyR IgG antibody induces GlyR internalization into motor neurons of brainstem and spinal cord with motor dysfunction in mice.
Epilepsy
Allosteric Modulation of Glycine Receptors.
Subunit-Specific Photocontrol of Glycine Receptors by Azobenzene-Nitrazepam Photoswitcher.
Epilepsy, Temporal Lobe
Allosteric Modulation of Glycine Receptors.
Hyperekplexia
A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.
A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition.
Anxiety and Startle Phenotypes in Glrb Spastic and Glra1 Spasmodic Mouse Mutants.
Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?
Human Hyperekplexic Mutations in Glycine Receptors Disinhibit the Brainstem by Hijacking GABAA Receptors.
Hyperekplexia mutation of glycine receptors: decreased gating efficacy with altered binding thermodynamics.
Hyperekplexia mutation R271L of alpha1 glycine receptors potentiates allosteric interactions of nortropeines, propofol and glycine with [3H]strychnine binding.
Hyperekplexia mutations of the glycine receptor unmask the inhibitory subsite for beta-amino-acids.
Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission.
Individual knock out of glycine receptor alpha subunits identifies a specific requirement of glra1 for motor function in zebrafish.
Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease.
Subunit-Specific Photocontrol of Glycine Receptors by Azobenzene-Nitrazepam Photoswitcher.
The role of charged residues in independent glycine receptor folding domains for intermolecular interactions and ion channel function.
The role of tonic glycinergic conductance in cerebellar granule cell signalling and the effect of gain-of-function mutation.
Hyperglycinemia, Nonketotic
Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?
Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.
Hypersensitivity
Modulation of glycine receptor single-channel conductance by intracellular phosphorylation.
Lipodystrophy
Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family.
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Lipodystrophy, Congenital Generalized
Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family.
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Lung Diseases, Interstitial
Antibodies to glycyl-transfer RNA synthetase in patients with myositis and interstitial lung disease.
Correlation of Antisynthetase Antibody Levels with Disease Course in a Patient with Interstitial Lung Disease and Elevated Muscle Enzymes.
Lupus Erythematosus, Systemic
Correlation of Antisynthetase Antibody Levels with Disease Course in a Patient with Interstitial Lung Disease and Elevated Muscle Enzymes.
Mitochondrial Diseases
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
Movement Disorders
Subunit-specific potentiation of recombinant glycine receptors by NV-31, a bilobalide-derived compound.
Muscle Spasticity
Altered potassium channel function in the superficial dorsal horn of the spastic mouse.
Anxiety and Startle Phenotypes in Glrb Spastic and Glra1 Spasmodic Mouse Mutants.
Despite GABAergic neurotransmission, GABAergic innervation does not compensate for the defect in glycine receptor postsynaptic aggregation in spastic mice.
Distinct physiological mechanisms underlie altered glycinergic synaptic transmission in the murine mutants spastic, spasmodic, and oscillator.
Muscular Atrophy
Effect of Electroacupuncture on the Expression of Glycyl-tRNA Synthetase and Ultrastructure Changes in Atrophied Rat Peroneus Longus Muscle Induced by Sciatic Nerve Injection Injury.
Muscular Atrophy, Spinal
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy.
Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family.
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
GRS defective axonal distribution as a potential contributor to distal spinal muscular atrophy type V pathogenesis in a new model of GRS-associated neuropathy.
Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice.
Myoclonus
Systemic delivery of human GlyR IgG antibody induces GlyR internalization into motor neurons of brainstem and spinal cord with motor dysfunction in mice.
Myositis
Antibodies to glycyl-transfer RNA synthetase in patients with myositis and interstitial lung disease.
Autoantibodies to glycyl-transfer RNA synthetase in myositis. Association with dermatomyositis and immunologic heterogeneity.
Clinical Features and Cytokine Profile in Myositis Patients with Anti-EJ Autoantibodies Detected by a Novel Immunoprecipitation Assay.
Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis.
Neoplasms
Extracellular vesicles derived from macrophages display glycyl-tRNA synthetase 1 and exhibit anti-cancer activity.
Neddylation requires glycyl-tRNA synthetase to protect activated E2.
Secreted human glycyl-tRNA synthetase implicated in defense against ERK-activated tumorigenesis.
Nervous System Diseases
Glycine Receptor Drug Discovery.
Hyperekplexia mutation R271L of alpha1 glycine receptors potentiates allosteric interactions of nortropeines, propofol and glycine with [3H]strychnine binding.
Neuralgia
Neuropathic pain model of peripheral neuropathies mediated by mutations of glycyl-tRNA synthetase.
Peripheral Nervous System Diseases
An Active Dominant Mutation of Glycyl-tRNA Synthetase Causes Neuropathy in a Charcot-Marie-Tooth 2D Mouse Model.
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease.
Neuropathic pain model of peripheral neuropathies mediated by mutations of glycyl-tRNA synthetase.
Seizures
Zinc enhances the inhibitory effects of strychnine-sensitive glycine receptors in mouse hippocampal neurons.
Spinal Muscular Atrophies of Childhood
Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease.
Stiff-Person Syndrome
The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia.
Tinnitus
Activation of 5-HT2A/C receptor reduces glycine receptor-mediated currents in cultured auditory cortical neurons.