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- W2912166793 abstract "Abstract Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we report an allelic series consisting of seven novel and two previously reported biallelic variants in valyl-tRNA synthetase ( VARS ) in ten patients with a developmental encephalopathy with microcephaly, often associated with early-onset epilepsy. In silico, in vitro, and yeast complementation assays demonstrate that the underlying pathomechanism of these mutations is most likely a loss of protein function. Zebrafish modeling accurately recapitulated some of the key neurological disease traits. These results provide both genetic and biological insights into neurodevelopmental disease and pave the way for further in-depth research on ARS related recessive disorders and precision therapies." @default.
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- W2912166793 date "2019-02-12" @default.
- W2912166793 modified "2023-10-17" @default.
- W2912166793 title "Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish" @default.
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- W2912166793 doi "https://doi.org/10.1038/s41467-018-07953-w" @default.
- W2912166793 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6372652" @default.
- W2912166793 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30755616" @default.
- W2912166793 hasPublicationYear "2019" @default.
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