Dragony Fu

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.

Structural impact of 3-methylcytosine modification on the anticodon stem of a neuronally-enriched arginine tRNA

This study investigates how 3-methylcytosine modification at position 32 of tRNA-Arg-UCU affects the structure of the anticodon stem loop and its functional implications.

Expanded tRNA methyltransferase family member TRMT9B regulates synaptic growth and function

The paper identifies TRMT9B as a negative regulator of synaptogenesis in Drosophila through genetic screening and biochemical analysis.

METTL8 is required for 3-methylcytosine modification in human mitochondrial tRNAs

This study identifies METTL8 as the enzyme responsible for 3-methylcytosine modification in human mitochondrial tRNAs and shows its role in tRNA folding.

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.

METTL2 forms a complex with the DALRD3 anticodon-domain binding protein to catalyze formation of 3-methylcytosine in specific arginine tRNA isoacceptors

This study identifies a complex between METTL2 and DALRD3 that catalyzes 3-methylcytosine formation in specific arginine tRNA isoacceptors and shows DALRD3 deficiency leads to loss of this modification.

Formation of tRNA wobble inosine in humans is perturbed by a millennia-old mutation linked to intellectual disability

This study shows that a mutation in ADAT3, linked to intellectual disability, disrupts tRNA wobble inosine formation and ADAT2/ADAT3 complex function.

Monitoring the 5-methoxycarbonylmethyl-2-thiouridine (mcm5s2U) modification in eukaryotic tRNAs via the gamma-toxin endonuclease

This paper introduces a method using gamma-toxin endonuclease to detect mcm5s2U modification in eukaryotic tRNAs and shows its conservation across species.