Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells

Abstract excerpt

exerts a dominant-negative loss-of-function effect on the WT subunit through heterodimerization. These findings provide a mechanistic explanation for how a monoallelic AsnRS mutation can lead to profound cellular dysfunction and contribute to severe neurodevelopmental disease, offering new insights into aaRS-associated pathologies and potential therapeutic strategies.

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