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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Xehetasun bibliografikoak
Argitaratua izan da:Nat Commun
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group UK 2020
Gaiak:
Article
Sarrera elektronikoa: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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