Multiple mechanisms lead to loss-of-function effects of pathogenic SARS2 variants.

doi:10.1242/dmm.052690

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Article

Multiple mechanisms lead to loss-of-function effects of pathogenic SARS2 variants.

Disease models & mechanisms - 1 Jul 2026

Del Greco Christina, Figueroa Stephanie M Laureano, Antonellis Anthony

Abstract excerpt

Seryl-tRNA synthetase 2 (SARS2) encodes the enzyme responsible for charging tRNA with serine in the mitochondria. SARS2 has been associated with a spectrum of recessive diseases including HUPRA syndrome and progressive spastic paresis. Previous studies showed that pathogenic SARS2 variants cause decreased tRNA charging; however, the mechanism by which specific variants lead to distinct recessive phenotypes has...

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Identifiers

PMID: 42220212
DOI: 10.1242/dmm.052690
PMCID: PMC13446559

Genes

SARS2

Variants

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