| Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation. | Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
Bostanova FM, Tsygankova PG, Larshina EA, Nagornov IO, Evseeva YV, Krutikhina IL, Dzhentemirova ME, Kashlakova MN, Petukhova MS, Sharkova IV, Zakharova EY., Free PMC Article | 07/3/2024 |
| Functional enrichment analysis reveals the involvement of DARS2 in multiple biological pathways and its potential as a therapeutic target in esophageal carcinoma. | Functional enrichment analysis reveals the involvement of DARS2 in multiple biological pathways and its potential as a therapeutic target in esophageal carcinoma.
Liu XS, Liu ZY, Zeng DB, Hu J, Chen XL, Gu JL, Gao Y, Pei ZJ., Free PMC Article | 03/6/2024 |
| DARS2 promotes the occurrence of lung adenocarcinoma via the ERK/c-Myc signaling pathway. | DARS2 promotes the occurrence of lung adenocarcinoma via the ERK/c-Myc signaling pathway.
Fang T, Jiang J, Yu W, Li R, Tian H., Free PMC Article | 12/29/2023 |
| DARS2 overexpression is associated with PET/CT metabolic parameters and affects glycolytic activity in lung adenocarcinoma. | DARS2 overexpression is associated with PET/CT metabolic parameters and affects glycolytic activity in lung adenocarcinoma.
Liu XS, Yuan LL, Gao Y, Ming X, Zhang YH, Zhang Y, Liu ZY, Yang Y, Pei ZJ., Free PMC Article | 08/30/2023 |
| Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing. | Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Guang S, O'Brien BM, Fine AS, Ying M, Fatemi A, Nemeth CL., Free PMC Article | 08/16/2023 |
| High expression of DARS2 indicates poor prognosis in lung adenocarcinoma. | High expression of DARS2 indicates poor prognosis in lung adenocarcinoma.
Jiang Y, You J, Wu C, Kang Y, Chen F, Chen L, Wu W., Free PMC Article | 10/15/2022 |
| Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations. | Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Roux CJ, Barcia G, Schiff M, Sissler M, Levy R, Dangouloff-Ros V, Desguerre I, Edvardson S, Elpeleg O, Rötig A, Munnich A, Boddaert N. | 09/11/2021 |
| DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia. | DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
Rumyantseva A, Motori E, Trifunovic A. | 08/28/2021 |
| Whole exome sequencing of the proband identified two compound heterozygous variants (NM_018122.4:c.1762C > G and c.563G > A) in DARS2 | Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
Yahia A, Elsayed L, Babai A, Salih MA, El-Sadig SM, Amin M, Koko M, Abubakr R, Idris R, Taha SOMA, Elmalik SA, Brice A, Ahmed AE, Stevanin G., Free PMC Article | 12/22/2018 |
| Results show that DARS2 is strongly upregulated in hepatocellular carcinoma (HCC) and is associated with HCC progression. DARS2 promotes HCC tumorigenesis by accelerating cell cycle progression and attenuating cell apoptosis. | Upregulation of DARS2 by HBV promotes hepatocarcinogenesis through the miR-30e-5p/MAPK/NFAT5 pathway.
Qin X, Li C, Guo T, Chen J, Wang HT, Wang YT, Xiao YS, Li J, Liu P, Liu ZS, Liu QY., Free PMC Article | 07/21/2018 |
| Mutations with mild effects on solubility occur in patients as allelic combinations whereas those with strong effects on solubility or on aminoacylation are necessarily associated with a partially functional allele. | Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures.
Sauter C, Lorber B, Gaudry A, Karim L, Schwenzer H, Wien F, Roblin P, Florentz C, Sissler M., Free PMC Article | 09/24/2016 |
| This study identified DARS2-associated leukoencephalopathy with hypomyelination with brainstem and spinal cord involvement and leg spasticity. | DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.
Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A., Free PMC Article | 05/9/2015 |
| 60 different DARS2 mutations were identified in 78 patients with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, 13 of which have not been reported before | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
van Berge L, Hamilton EM, Linnankivi T, Uziel G, Steenweg ME, Isohanni P, Wolf NI, Krägeloh-Mann I, Brautaset NJ, Andrews PI, de Jong BA, al Ghamdi M, van Wieringen WN, Tannous BA, Hulleman E, Würdinger T, van Berkel CG, Polder E, Abbink TE, Struys EA, Scheper GC, van der Knaap MS, LBSL Research Group. | 05/24/2014 |
| Cognitive impairment seems to be common among patients with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate and DARS2 mutations | Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.
Martikainen MH, Ellfolk U, Majamaa K. | 03/1/2014 |
| A comparison of biophysical properties of human mitochondrial aspartyl-tRNA synthetase, HsaDRS2, with them to those of a bacterial (E. coli) homolog, EcoDRS. | Thermodynamic properties distinguish human mitochondrial aspartyl-tRNA synthetase from bacterial homolog with same 3D architecture.
Neuenfeldt A, Lorber B, Ennifar E, Gaudry A, Sauter C, Sissler M, Florentz C., Free PMC Article | 05/11/2013 |
| Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse way | Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
van Berge L, Kevenaar J, Polder E, Gaudry A, Florentz C, Sissler M, van der Knaap MS, Scheper GC. | 04/13/2013 |
| We describe two new cases of Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate with a novel pathogenic mutation in the DARS2 gene | Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.
Tzoulis C, Tran GT, Gjerde IO, Aasly J, Neckelmann G, Rydland J, Varga V, Wadel-Andersen P, Bindoff LA. | 05/26/2012 |
| Case demonstrates that DARS2 mutation homozygosity is not lethal, as suggested earlier, but compatible with a rather benign disease course. | Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schöls L. | 03/17/2012 |
| Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC. | 03/17/2012 |
| A novel homozygous mutation of DARS2 may cause a severe LBSL (Leukoencephalopathy with brain stem and spinal cord involvement with lactate elevation) variant. | A novel homozygous mutation of DARS2 may cause a severe LBSL variant.
Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N. | 12/31/2011 |
| This report describes two novel heterozygote composite mutations in the DARS2 gene | Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations.
Labauge P, Dorboz I, Eymard-Pierre E, Dereeper O, Boespflug-Tanguy O. | 06/18/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| DARS2 mutations cause childhood-to-adolescence onset leucoencephalopathy, but they do not seem to be associated with multiple sclerosis. | DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.
Isohanni P, Linnankivi T, Buzkova J, Lönnqvist T, Pihko H, Valanne L, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Koivisto K, Marjavaara S, Suomalainen A. | 03/8/2010 |
| The gene for mitochondrial aspartyl-tRNA synthetase is described and the initial characterization of the enzyme is reported. Genes for the remaining missing human synthetases have also been found with the exception of glutaminyl-tRNA synthetase. | Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS.
Bonnefond L, Fender A, Rudinger-Thirion J, Giegé R, Florentz C, Sissler M. | 03/1/2010 |
| Meta-analysis of gene-disease association. (HuGE Navigator) | Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
Reiling E, van Vliet-Ostaptchouk JV, van 't Riet E, van Haeften TW, Arp PA, Hansen T, Kremer D, Groenewoud MJ, van Hove EC, Romijn JA, Smit JW, Nijpels G, Heine RJ, Uitterlinden AG, Pedersen O, Slagboom PE, Maassen JA, Hofker MH, 't Hart LM, Dekker JM., Free PMC Article | 03/25/2009 |