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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424529/
https://www.ncbi.nlm.nih.gov/pubmed/32788587
http://dx.doi.org/10.1038/s41467-020-17454-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424529/
https://www.ncbi.nlm.nih.gov/pubmed/32788587
http://dx.doi.org/10.1038/s41467-020-17454-4

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