| Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review. | Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N, Chen L, Zhang Y, Wu X, Hao Y, Yang F, Yang Z, Liang J., Free PMC Article | 02/7/2024 |
| Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability. | Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.
Ait-El-Mkadem Saadi S, Kaphan E, Morales Jaurrieta A, Fragaki K, Chaussenot A, Bannwarth S, Maues De Paula A, Paquis-Flucklinger V, Rouzier C. | 11/26/2022 |
| The phenotypic variability and natural history of NARS2 associated disease. | The phenotypic variability and natural history of NARS2 associated disease.
Sofou K, Kollberg G, Hedberg-Oldfors C, Oldfors A. | 06/19/2021 |
| The AARS2 variant accounts for a significant number of cases with Non-immune Hydrops Fetalis in the cohort of pregnancies Omani patients. | Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
Bruwer Z, Al Riyami N, Al Dughaishi T, Al Murshedi F, Al Sayegh A, Al Kindy A, Meftah D, Al Kharusi K, Al Foori A, Al Yarubi N, Scott P, Al-Thihli K. | 03/16/2019 |
| NARS2 expression is reduced in AD brain tissue compared with controls. NARS2 expression in brain is associated with GAB2 AD risk variant rs2373115. | Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2 Expression in Human Brain Tissues.
Liu G, Wang T, Tian R, Hu Y, Han Z, Wang P, Zhou W, Ren P, Zong J, Jin S, Jiang Q. | 11/10/2018 |
| The individuals with PARS2 and NARS2 mutations demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type. | PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N. | 01/13/2018 |
| Genome-wide SNP analysis identified multiple suggestive novel loci and two of them were also significant in gene-based analysis (CCDC85C and NARS2) that survived after controlling for false-discovery rate at 0.05. | Genetic Determinants of Survival in Patientswith Alzheimer’s Disease.
Wang X, Lopez O, Sweet RA, Becker JT, DeKosky ST, Barmada MM, Feingold E, Demirci FY, Kamboh MI., Free PMC Article | 01/16/2016 |
| In these cells we show that a decrease in oxygen consumption rates (OCR) and electron transport chain (ETC) activity can be rescued by overexpression of wild type NARS2 | Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S., Free PMC Article | 01/2/2016 |
| A variant in NARS2 results in a combined OXPHOS complex deficiency involving complex I and IV, making NARS2 a new member of disease-associated aminoacyl-tRNA synthetases. | Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M, Van Coster R. | 10/3/2015 |
| 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 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |