Publikacje naukowe dotyczące zaburzeń NARS1
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
Raporty kliniczne (zrozumienie zaburzenia NARS1 u ludzi)
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
Podsumowanie kliniczne zaburzenia NARS1
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
Raporty kliniczne (zrozumienie zaburzenia NARS1 u ludzi)
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
Raporty kliniczne (zrozumienie zaburzenia NARS1 u ludzi)
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
Raporty kliniczne (zrozumienie zaburzenia NARS1 u ludzi)
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.
