Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Biallelic <i>VARS</i> variants cause developmental encephalopathy with microcephaly that is recapitulated in <i>vars</i> knockout zebrafish, Published online: 12 February 2019; doi:10.1038/s41467-018-07953-w

tRNAs are linked with their cognate amino acid by aminoacyl tRNA synthetases (ARS). Here, the authors report a developmental encephalopathy associated with biallelic VARS variants (valyl-tRNA synthetase) that lead to loss of function, as determined by several in vitro assays and a vars knockout zebrafish model.

from A via a.sfakia on Inoreader https://go.nature.com/2E4VVFY