Article
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Nature communications - 12 Aug 2020
Wang Lu, Li Zhen, Sievert David, Smith Desirée E C, Mendes Marisa I, Chen Dillon Y, Stanley Valentina, Ghosh Shereen, Wang Yulu, Kara Majdi, Aslanger Ayca Dilruba, Rosti Rasim O, Houlden Henry, Salomons Gajja S, Gleeson Joseph G
Abstract excerpt
Asparaginyl-tRNA synthetase1 (NARS1) is a member of the ubiquitously expressed cytoplasmic Class IIa family of tRNA synthetases required for protein translation. Here, we identify biallelic missense and frameshift mutations in NARS1 in seven patients from three unrelated families with microcephaly and neurodevelopmental delay. Patient cells show reduced NARS1 protein, impaired NARS1 activity and impaired global...
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