NARS1 Disorder Tieteelliset julkaisut
Research into the NARS1 gene is still emerging, but the volume of published work has grown steadily since the first papers in 2020.
This page provides a collection of scientific publications related to NARS1 to date, reflecting the current state of research and contributing to a developing understanding of the disorder.
2025
Kliiniset raportit (NARS1-häiriön ymmärtäminen ihmisillä)
Hasija N, Lees J. NARS1-Related Disorder-An Orphan Disease. Paediatr Anaesth. Published online February 4, 2025. doi:10.1111/pan.15071.
Trzupek K, Bhargava R, Kuan C, et al. Breaking barriers in rare disease research: The RARE-X Open Science Data Challenge as a model for collaborative innovation and community partnership. HGG Adv. Published online May 30, 2025. doi:10.1016/j.xhgg.2025.100462
Laboratory Studies
Vallee I, Shapiro R, Yang XL. Purification and validation of asparaginyl-tRNA synthetase heterodimer with indistinguishable subunits. IUBMB Life. 2025;77(2):e70000. doi:10.1002/iub.70000
Vallee I, Shapiro R, Qi L, et al. Dominant-negative NARS1 R534* mutation causes wild-type subunit poisoning and heterodimer predominance in cells. J Biol Chem. Published online September 4, 2025. doi:10.1016/j.jbc.2025.110690
NARS1-häiriön kliininen yhteenveto
Efthymiou S, Nagy S, Aynekin B, Houlden H. NARS1-Related Neurologic Disorders. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; February 27, 2025.
2024
Kliiniset raportit (NARS1-häiriön ymmärtäminen ihmisillä)
Ahmed AN, Rawlins LE, Khan N, et al. Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan. BMC Neurol. 2024;24(1):394. Published 2024 Oct 16. doi:10.1186/s12883-024-03882-y.
Beijer D, Marte S, Li JC, et al. Dominant NARS1mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases. Brain Commun. 2024;6(2):fcae070. Published 2024 Mar 8. doi:10.1093/braincomms/fcae070.
Cesaroni CA, Contrò G, Spagnoli C, et al. Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature. Neurogenetics. 2024;25(3):287-291. doi:10.1007/s10048-024-00760-0.
Guo T, Adam M. Milder symptom presentation of de novo NARS1 pathogenic variant: A case report. Genet Med Open. 2024;2(Suppl 1):101349. doi:10.1016/j.gimo.2024.101349
Nonkulovski, D., Sulejmani, H., & Memeti, S. (2024). Neurodevelopmental disorder associated with NARS1 gene mutation in a child with cerebral palsy. International Journal of Research in Medical Sciences, 12(5), 1702–1705. doi:10.18203/2320-6012.ijrms20241258.
Theuriet J, Marte S, Isapof A, et al. A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. J Peripher Nerv Syst. 2024;29(2):275-278. doi:10.1111/jns.12635.
Vlachou V, Alrahman A, Majumdar A. 78VP Pathogenic NARS1 mutations identified as the cause of neurodevelopment delay, microcephaly and peripheral neuropathy in two related patients. Neuromuscular Disorders. 2024; 43(1):117. doi:10.1016/j.nmd.2024.07.441.
2022
Kliiniset raportit (NARS1-häiriön ymmärtäminen ihmisillä)
Atemin S, Todorov T, Tourtourikov I, et al. Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the NARS1 Gene. Acta Medica Bulgarica. 2022;49(2):48-50. doi.:10.2478/amb-2022-0020.
2020
Kliiniset raportit (NARS1-häiriön ymmärtäminen ihmisillä)
Manole A, Efthymiou S, O'Connor E, et al. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020;107(2):311-324. doi:10.1016/j.ajhg.2020.06.016. Supplemental Data.
Wang L, Li Z, Sievert D, et al. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nat Commun. 2020;11(1):4038. Published 2020 Aug 12. doi:10.1038/s41467-020-17454-4. Published correction appears in Nat Commun. 2021 Feb 15;12(1):1192. doi: 10.1038/s41467-021-21448-1.
