Kejia Zhang

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs

The paper identifies the roles of TRMT1 and TRMT1L in tRNA modifications, showing their impact on tRNA stability and function, and links TRMT1 variants to disease.

Proteolytic cleavage and inactivation of the TRMT1 tRNA modification enzyme by SARS-CoV-2 main protease

This study shows that SARS-CoV-2 main protease Nsp5 cleaves and inactivates TRMT1, a host tRNA modification enzyme, leading to reduced tRNA modifications and viral RNA levels in infected cells.

Epileptic encephalopathy linked to a DALRD3 missense variant impaired in tRNA modification function

The paper identifies a DALRD3 missense variant causing epileptic encephalopathy by impairing tRNA modification function.

A missense variant impairing TRMT1 function in tRNA modification is linked to intellectual disability

This study identifies a missense variant in TRMT1 causing intellectual disability by disrupting tRNA m2,2G modification.