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Disease on EC 6.1.1.4 - leucine-tRNA ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis, Lactic
Correction for Li and Guan, "Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA(Leu(UUR)) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes".
Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Anemia
Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations.
Anemia, Sideroblastic
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Carcinogenesis
Implication of leucyl-tRNA synthetase 1 (LARS1) over-expression in growth and migration of lung cancer cells detected by siRNA targeted knock-down analysis.
Inactivation of LARS2, located at the commonly deleted region 3p21.3, by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma.
Carcinoma, Non-Small-Cell Lung
Therapeutic effects of the novel Leucyl-tRNA synthetase inhibitor BC-LI-0186 in non-small cell lung cancer.
CHARGE Syndrome
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Coma
Prognostic value of time-related Glasgow Coma Scale components in severe traumatic brain injury: a prospective evaluation with respect to 1-year survival and functional outcome.
Confusion
Homosexuality in ancient and modern Korea.
COVID-19
Instagram as a virtual art display for medical students.
Deafness
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Diabetes Mellitus, Type 2
Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene.
Genetic association analysis of LARS2 with type 2 diabetes.
Fetal Growth Retardation
Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations.
Gram-Negative Bacterial Infections
An assessment of the genetic toxicology of novel boron-containing therapeutic agents.
Hearing Loss
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome.
Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Hearing Loss, Sensorineural
Marfanoid habitus is a nonspecific feature of Perrault syndrome.
Hypertension
Prevalence and perinatal outcomes of non-communicable diseases in pregnancy in a regional hospital in Haiti: A prospective cohort study.
Infections
Bacterial resistance to leucyl-tRNA synthetase inhibitor GSK2251052 develops during treatment of complicated urinary tract infections.
Directive clinique no 409 : Tests diagnostiques fœtaux intra-utérins en cas d'infection virale chronique maternelle.
Discovery of a potent benzoxaborole-based anti-pneumococcal agent targeting leucyl-tRNA synthetase.
Recent development of leucyl-tRNA synthetase inhibitors as antimicrobial agents.
Kallmann Syndrome
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
leucine-trna ligase deficiency
Leucyl-tRNA synthetase deficiency systemically induces excessive autophagy in zebrafish.
Liver Failure
Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization.
Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations.
[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].
Liver Failure, Acute
Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations.
Lung Diseases
A Leucyl-tRNA Synthetase Inhibitor with Broad-Spectrum Anti-Mycobacterial Activity.
Lung Neoplasms
Implication of leucyl-tRNA synthetase 1 (LARS1) over-expression in growth and migration of lung cancer cells detected by siRNA targeted knock-down analysis.
Therapeutic effects of the novel Leucyl-tRNA synthetase inhibitor BC-LI-0186 in non-small cell lung cancer.
Malaria
Recent development of leucyl-tRNA synthetase inhibitors as antimicrobial agents.
Mandibulofacial Dysostosis
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
MELAS Syndrome
Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.
Exploring the Ability of LARS2 Carboxy-Terminal Domain in Rescuing the MELAS Phenotype.
Migraine Disorders
Samuel Auguste Tissot (1728-1797). His research on migraine.
Mitochondrial Diseases
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
Mitochondrial Encephalomyopathies
Correction for Li and Guan, "Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA(Leu(UUR)) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes".
Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
Mitochondrial Myopathies
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Muscular Diseases
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Mycoses
Recent development of leucyl-tRNA synthetase inhibitors as antimicrobial agents.
Nasopharyngeal Carcinoma
Inactivation of LARS2, located at the commonly deleted region 3p21.3, by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma.
Nasopharyngitis
Inactivation of LARS2, located at the commonly deleted region 3p21.3, by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma.
Neoplasms
An In Vivo Gain-of-Function Screen Identifies the Williams-Beuren Syndrome Gene GTF2IRD1 as a Mammary Tumor Promoter.
Avoir sa santé en main : le sentiment d'habilitation tel que perçu par les jeunes adultes souffrant d'un cancer avancé.
Concept d'adaptation chez les conjoints de femmes iraniennes atteintes du cancer du sein: étude qualitative basée sur une approche phénoménologique.
Connaissances, attitudes et croyances concernant le dépistage du cancer du col utérin dans le District d'Ajumako-Enyan-Essiam au Ghana.
Degrés de collaboration perçus entre les patients atteints de cancer et leurs prestataires de soins pendant la radiothérapie.
Élaboration d'un énoncé de position national sur la navigation des patients atteints de cancer au Canada.
Implication of leucyl-tRNA synthetase 1 (LARS1) over-expression in growth and migration of lung cancer cells detected by siRNA targeted knock-down analysis.
Leucyl-tRNA synthetase 1 is required for proliferation of TSC-null cells.
Optimiser les soins des adultes âgés atteints de cancer et l'accompagnement de leurs proches: énoncé de position et contribution des infirmières canadiennes en oncologie.
Plant tumour biocontrol agent employs a tRNA-dependent mechanism to inhibit leucyl-tRNA synthetase.
Retour au travail de patients atteints de cancer.
Nephritis, Hereditary
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Neurologic Manifestations
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
Onychomycosis
An antifungal agent inhibits an aminoacyl-tRNA synthetase by trapping tRNA in the editing site.
Pediatric Obesity
Prendre le virage des partenariats.
Primary Ovarian Insufficiency
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
Marfanoid habitus is a nonspecific feature of Perrault syndrome.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Squamous Cell Carcinoma of Head and Neck
Promoter methylation of cyclin A1 is associated with human papillomavirus 16 induced head and neck squamous cell carcinoma independently of p53 mutation.
Starvation
Glucose Starvation Blocks Translation at Multiple Levels.
Glucose-dependent control of leucine metabolism by leucyl-tRNA synthetase 1.
In vivo regulatory responses of four Escherichia coli operons which encode leucyl-tRNAs.
Membrane association of leucyl-tRNA synthetase during leucine starvation in Escherichia coli.
Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation.
Regulation of the nuclear genes encoding the cytoplasmic and mitochondrial leucyl-tRNA synthetases of Neurospora crassa.
Yeast proteinase yscB inactivates the leucyl tRNA synthetase in extracts of Saccharomyces cerevisiae.
Stroke
A video-game group intervention: Experiences and perceptions of adults with chronic stroke and their therapists: Intervention de groupe à l'aide de jeux vidéo : Expériences et perceptions d'adultes en phase chronique d'un accident vasculaire cérébral et de leurs ergothérapeutes.
Tuberculosis
A Leucyl-tRNA Synthetase Inhibitor with Broad-Spectrum Anti-Mycobacterial Activity.
A prokaryote and human tRNA synthetase provide an essential RNA splicing function in yeast mitochondria.
Crucial role of the C-terminal domain of Mycobacterium tuberculosis leucyl-tRNA synthetase in aminoacylation and editing.
Discovery of a Potent and Specific M. tuberculosis Leucyl-tRNA Synthetase Inhibitor: (S)-3-(Aminomethyl)-4-chloro-7-(2-hydroxyethoxy)benzo[c][1,2]oxaborol-1(3H)-ol (GSK656).
Discovery of novel antituberculosis agents among 3-phenyl-5-(1-phenyl-1H-[1,2,3]triazol-4-yl)-[1,2,4]oxadiazole derivatives targeting aminoacyl-tRNA synthetases.
Discovery of novel oral protein synthesis inhibitors of Mycobacterium tuberculosis that target leucyl-tRNA synthetase.
Discovery of potent anti-tuberculosis agents targeting leucyl-tRNA synthetase.
Dual-target inhibitors of mycobacterial aminoacyl-tRNA synthetases among N-benzylidene-N'-thiazol-2-yl-hydrazines.
Dual-targeted hit identification using pharmacophore screening.
First-Time-in-Human Study and Prediction of Early Bactericidal Activity for GSK3036656, a Potent Leucyl-tRNA Synthetase Inhibitor for Tuberculosis Treatment.
Identification of Mycobacterium tuberculosis leucyl-tRNA synthetase (LeuRS) inhibitors among the derivatives of 5-phenylamino-2H-[1,2,4]triazin-3-one.
In Vitro Susceptibility Testing of GSK656 against Mycobacterium Species.
Urinary Tract Infections
Bacterial resistance to leucyl-tRNA synthetase inhibitor GSK2251052 develops during treatment of complicated urinary tract infections.
Usher Syndromes
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
Waardenburg Syndrome
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.