EARS2

Summary

Gene Symbol: EARS2
Description: glutamyl-tRNA synthetase 2, mitochondrial
Alias: COXPD12, MSE1, gluRS, glutamate tRNA ligase 2, mitochondrial, glutamate--tRNA ligase
Species: human
Products:     EARS2

Top Publications

  1. Kinsella C, Deijs M, van der Hoek L. Enhanced bioinformatic profiling of VIDISCA libraries for virus detection and discovery. Virus Res. 2018;: pubmed publisher
    ..The workflow leverages the VIDISCA library preparation molecular biology, specifically the use of Mse1 restriction enzyme which produces biological replicate library inserts from identical genomes...
  2. Taskin B, Karalok Z, Gürkas E, Aydin K, Aydogmus U, Ceylaner S, et al. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. J Child Neurol. 2016;31:938-41 pubmed publisher
    ..caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutamate, EARS2 Magnetic resonance images show a characteristic leukoencephalopathy with thalamic and brain stem involvement...
  3. Sahin S, Cansu A, Kalay E, Dinçer T, Kul S, Çakır İ, et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings. J Neurol Sci. 2016;365:54-8 pubmed publisher
    ..and brainstem involvement, and high lactate (LTBL) is a recently identified disease related to mutations in the EARS2 gene encoding glutamyl-tRNA synthetase...
  4. Pronicka E, Piekutowska Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucinska Wieckowska A, et al. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. J Transl Med. 2016;14:174 pubmed publisher
    ..In 47 patients, changes in 31 MD-related genes (ACAD9, ADCK3, AIFM1, CLPB, COX10, DLD, EARS2, FBXL4, MTATP6, MTFMT, MTND1, MTND3, MTND5, NAXE, NDUFS6, NDUFS7, NDUFV1, OPA1, PARS2, PC, PDHA1, POLG, RARS2, ..
  5. Danhauser K, Haack T, Alhaddad B, Melcher M, Seibt A, Strom T, et al. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum. Metab Brain Dis. 2016;31:717-21 pubmed publisher
    ..Here, we report on a child with fatal neonatal lactic acidosis and recurrent hypoglycemia caused by mutations in EARS2, encoding mitochondrial glutamyl-tRNA synthetase 2. Brain ultrasound revealed agenesis of corpus callosum...
  6. Gungor O, Özkaya A, Sahin Y, Gungor G, Dilber C, Aydin K. A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). Brain Dev. 2016;38:857-61 pubmed publisher
    ..High-throughput sequencing revealed a novel compound heterozygous mutation in mitochondrial glutamyl-tRNA synthetase 2 (EARS2), which appears to be causative of disease symptoms.
  7. Oliveira R, Sommerville E, Thompson K, Nunes J, Pyle A, Grazina M, et al. Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features. JIMD Rep. 2017;33:61-68 pubmed publisher
    ..Whole exome sequencing (WES) identified biallelic EARS2 (NM_001083614) variants, a previously reported start-loss (c.1>G, p.Met1?) variant and a novel missense (c...
  8. Galaktionov N, Podgornaya O, Strelkov P, Galaktionov K. Genomic diversity of cercarial clones of Himasthla elongata (Trematoda, Echinostomatidae) determined with AFLP technique. Parasitol Res. 2016;115:4587-4593 pubmed
    ..The level of genomic diversity of particular cercariae isolates from a single clone, detected with EcoR1/Mse1 AFLP reaction, was significantly lower than the variability of cercariae from different clones...
  9. Ciara E, Rokicki D, Lazniewski M, Mierzewska H, Jurkiewicz E, Bekiesinska Figatowska M, et al. Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations. J Hum Genet. 2018;63:473-485 pubmed publisher
    ..reported PARS2 patients and seemed specific for this defect when compared with other mt-aaRSs defects (DARS2, EARS2, IARS2, and RARS2)...

More Information

Publications14

  1. Nagao A, Suzuki T, Katoh T, Sakaguchi Y, Suzuki T. Biogenesis of glutaminyl-mt tRNAGln in human mitochondria. Proc Natl Acad Sci U S A. 2009;106:16209-14 pubmed publisher
  2. Calvo S, Compton A, Hershman S, Lim S, Lieber D, Tucker E, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012;4:118ra10 pubmed publisher
    ..The pathogenicity of two such genes, NDUFB3 and AGK, was supported by complementation studies and evidence from multiple patients, respectively. The results underscore the potential and challenges of deploying NGS in clinical settings. ..
  3. Bonnefond L, Fender A, Rudinger Thirion J, Giege R, Florentz C, Sissler M. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. Biochemistry. 2005;44:4805-16 pubmed
    ..Their sequence analysis confirms and further extends the view that, except for lysyl- and glycyl-tRNA synthetases, human mitochondrial and cytosolic enzymes are coded by two different sets of genes. ..
  4. Steenweg M, Ghezzi D, Haack T, Abbink T, Martinelli D, van Berkel C, et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012;135:1387-94 pubmed publisher
    ..In an isolated patient, we found two mutant alleles for EARS2, the gene encoding mitochondrial glutamyl-tRNA synthetase...
  5. Talim B, Pyle A, Griffin H, Topaloglu H, Tokatli A, Keogh M, et al. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. Brain. 2013;136:e228 pubmed publisher