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Disease on EC 6.1.1.5 - isoleucine-tRNA ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Aortic Aneurysm, Abdominal
Up regulation of isoleucyl-tRNA synthetase promotes vascular smooth muscle cells dysfunction via p38 MAPK/PI3K signaling pathways.
Aphasia
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.
Bacterial Infections
Enzymatic glycosylation of the topical antibiotic mupirocin.
Bone Resorption
Reveromycin A, an agent for osteoporosis, inhibits bone resorption by inducing apoptosis specifically in osteoclasts.
Candidiasis
Efficacy of PLD-118, a novel inhibitor of candida isoleucyl-tRNA synthetase, against experimental oropharyngeal and esophageal candidiasis caused by fluconazole-resistant C. albicans.
Efficacy, plasma pharmacokinetics, and safety of icofungipen, an inhibitor of Candida isoleucyl-tRNA synthetase, in treatment of experimental disseminated candidiasis in persistently neutropenic rabbits.
Carcinogenesis
The Oncogene IARS2 Promotes Non-small Cell Lung Cancer Tumorigenesis by Activating the AKT/MTOR Pathway.
Carcinoma, Non-Small-Cell Lung
IARS2 silencing induces non-small cell lung cancer cells proliferation inhibition, cell cycle arrest and promotes cell apoptosis.
The Oncogene IARS2 Promotes Non-small Cell Lung Cancer Tumorigenesis by Activating the AKT/MTOR Pathway.
Cardiomyopathy, Hypertrophic
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
Cataract
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.
Colonic Neoplasms
Expression of IARS2 gene in colon cancer and effect of its knockdown on biological behavior of RKO cells.
Deafness
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Hearing Loss, Sensorineural
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.
Hepatitis
Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report.
Hip Dislocation
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Infections
Expression of IARS2 gene in colon cancer and effect of its knockdown on biological behavior of RKO cells.
Inhibition of isoleucyl-tRNA synthetase as a potential treatment for human African Trypanosomiasis.
Mupirocin: biosynthesis, special features and applications of an antibiotic from a Gram-negative bacterium.
Phenyltriazole-functionalized sulfamate inhibitors targeting tyrosyl- or isoleucyl-tRNA synthetase.
Inflammatory Bowel Diseases
Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report.
Influenza, Human
Effects of a minor isoleucyl tRNA on heterologous protein translation in Escherichia coli.
isoleucine-trna ligase deficiency
Does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?
Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?
Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report.
Response to: does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?
Leigh Disease
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.
Leukemia
Knockdown of IARS2 Inhibited Proliferation of Acute Myeloid Leukemia Cells by Regulating p53/p21/PCNA/eIF4E Pathway.
Leukemia, Myeloid, Acute
Knockdown of IARS2 Inhibited Proliferation of Acute Myeloid Leukemia Cells by Regulating p53/p21/PCNA/eIF4E Pathway.
Lung Neoplasms
IARS2 silencing induces non-small cell lung cancer cells proliferation inhibition, cell cycle arrest and promotes cell apoptosis.
The Oncogene IARS2 Promotes Non-small Cell Lung Cancer Tumorigenesis by Activating the AKT/MTOR Pathway.
Melanoma
RNAi-mediated IARS2 knockdown inhibits proliferation and promotes apoptosis in human melanoma A375 cells.
Neoplasm Metastasis
Inhibitory mechanism of reveromycin A at the tRNA binding site of a class I synthetase.
The Oncogene IARS2 Promotes Non-small Cell Lung Cancer Tumorigenesis by Activating the AKT/MTOR Pathway.
Neoplasms
Alterations of repeated sequences in 5' upstream and coding regions in colorectal tumors from patients with hereditary nonpolyposis colorectal cancer and Turcot syndrome.
Expression of IARS2 gene in colon cancer and effect of its knockdown on biological behavior of RKO cells.
RNAi-mediated IARS2 knockdown inhibits proliferation and promotes apoptosis in human melanoma A375 cells.
The Oncogene IARS2 Promotes Non-small Cell Lung Cancer Tumorigenesis by Activating the AKT/MTOR Pathway.
Transcriptional profiling of genes at the human common fragile site FRA1H in tumor-derived cell lines.
Nervous System Diseases
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Peripheral Nervous System Diseases
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Spasms, Infantile
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.
Stomach Neoplasms
Knockdown of IARS2 suppressed growth of gastric cancer cells by regulating the phosphorylation of cell cycle-related proteins.
Trypanosomiasis, African
Inhibition of isoleucyl-tRNA synthetase as a potential treatment for human African Trypanosomiasis.
Tuberculosis
A eubacterial Mycobacterium tuberculosis tRNA synthetase is eukaryote-like and resistant to a eubacterial-specific antisynthetase drug.