| 1 | MNDDSA, NARS1 |
| Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. | |
| Wang L, Li Z, Sievert D, Smith DEC, Mendes MI, Chen DY, Stanley V, Ghosh S, Wang Y, Kara M, Aslanger AD, Rosti RO, Houlden H, Salomons GS, Gleeson JG. | |
| Nat Commun. Aug 12;11(1):4038. doi: 10.1038/s41467-020-17454-4 2020 | |
| 2 | MNDDSA, NARS1 |
| De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. | |
| Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. | |
| Am J Hum Genet. Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31 2020 | |
| 3 | NARS1 |
| Human asparaginyl-tRNA synthetase : molecular cloning and the inference of the evolutionary history of Asx-tRNA synthetase family. | |
| Shiba K, et al. | |
| Nucleic Acids Res 26 : 5045-5051. 1998 | |
| 4 | NARS1 |
| Isolation and characterization of interspecific heat-resistant hybrids between a temperature sensitive Chinese hamster cell asparaginyl-tRNAsynthetase mutant and normal human leukocytes: assignment of the human asnS gene to chromosome 18. | |
| Cirullo RE, et al. | |
| Somatic Cell Genet 9 : 215-233. 1983 | |