| Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease. | Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease.
Li G, Eriani G, Wang ED, Zhou XL. | 03/12/2022 |
| RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. | RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI., Free PMC Article | 02/6/2021 |
| we demonstrated the presence of the recurrent RARS-MAD1L1 gene fusion in NPC. Furthermore, we provided the first evidence showing that the RARS-MAD1L1 fusion gene enhances tumorigenicity, CSC-like properties, and therapeutic resistance | The RARS-MAD1L1 Fusion Gene Induces Cancer Stem Cell-like Properties and Therapeutic Resistance in Nasopharyngeal Carcinoma.
Zhong Q, Liu ZH, Lin ZR, Hu ZD, Yuan L, Liu YM, Zhou AJ, Xu LH, Hu LJ, Wang ZF, Guan XY, Hao JJ, Lui VWY, Guo L, Mai HQ, Chen MY, Han F, Xia YF, Grandis JR, Zhang X, Zeng MS., Free PMC Article | 07/27/2019 |
| This study demonstrates that human mitochondrial AspRS, ArgRS, and LysRS, each have a specific sub-mitochondrial distribution, with ArgRS being exclusively localized in the membrane, LysRS exclusively in the soluble fraction, and AspRS being present in both. | Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.
González-Serrano LE, Karim L, Pierre F, Schwenzer H, Rötig A, Munnich A, Sissler M., Free PMC Article | 03/9/2019 |
| Missense variant Ser456Leu and a de novo deletion Tyr616Leufs*6 cause disorder akin to Pelizaeus-Merzbacher disease. | Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.
Nafisinia M, Sobreira N, Riley L, Gold W, Uhlenberg B, Weiß C, Boehm C, Prelog K, Ouvrier R, Christodoulou J., Free PMC Article | 12/16/2017 |
| Data indicate that the N terminus of Pro-EMAP II binds to its C terminus, arginyl-tRNA synthetase, and the neurofilament light subunit. | The N terminus of pro-endothelial monocyte-activating polypeptide II (EMAP II) regulates its binding with the C terminus, arginyl-tRNA synthetase, and neurofilament light protein.
Xu H, Malinin NL, Awasthi N, Schwarz RE, Schwarz MA., Free PMC Article | 06/27/2015 |
| interactions between the N-terminal domains of ArgRS and AIMP1 are important for the catalytic and noncatalytic activities of ArgRS and for the assembly of the higher-order MSC protein complex with ArgRS-GlnRS-AIMP1 | Structure of the ArgRS-GlnRS-AIMP1 complex and its implications for mammalian translation.
Fu Y, Kim Y, Jin KS, Kim HS, Kim JH, Wang D, Park M, Jo CH, Kwon NH, Kim D, Kim MH, Jeon YH, Hwang KY, Kim S, Cho Y., Free PMC Article | 04/25/2015 |
| The mRNA of human cytoplasmic arginyl-tRNA synthetase recruits prokaryotic ribosomes independently. | The mRNA of human cytoplasmic arginyl-tRNA synthetase recruits prokaryotic ribosomes independently.
Yang F, Ji QQ, Ruan LL, Ye Q, Wang ED., Free PMC Article | 02/14/2015 |
| report describe 4 patients with hypomyelination and mutations in RARS | Mutations in RARS cause hypomyelination.
Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q. | 11/8/2014 |
| The crystal structures of the L-arginine-complexed, and L-canavanine-complexed forms of arginyl-tRNA synthetase from Homo sapiens. | The crystal structure of arginyl-tRNA synthetase from Homo sapiens.
Kim HS, Cha SY, Jo CH, Han A, Hwang KY. | 08/16/2014 |
| Hemin binds to human cytoplasmic arginyl-tRNA synthetase and inhibits its catalytic activity | Hemin binds to human cytoplasmic arginyl-tRNA synthetase and inhibits its catalytic activity.
Yang F, Xia X, Lei HY, Wang ED., Free PMC Article | 01/15/2011 |
| 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 |
| RARS over-expression impairs aminoacyl t-RNA synthetase interacting multifunctional protein (AIMP1) secretion by both HeLa and MCF7 cells. | Proteasomes and RARS modulate AIMP1/EMAP II secretion in human cancer cell lines.
Bottoni A, Vignali C, Piccin D, Tagliati F, Luchin A, Zatelli MC, Uberti EC. | 01/21/2010 |
| leucyl-tRNA synthetase requires its C-terminal domain for its interaction with arginyl-tRNA synthetase in the multi-tRNA synthetase complex | The C-terminal appended domain of human cytosolic leucyl-tRNA synthetase is indispensable in its interaction with arginyl-tRNA synthetase in the multi-tRNA synthetase complex.
Ling C, Yao YN, Zheng YG, Wei H, Wang L, Wu XF, Wang ED. | 01/21/2010 |