Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

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 a...

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Publicado no:Nat Commun
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7424529/
https://ncbi.nlm.nih.gov/pubmed/32788587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-17454-4
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