An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23976
Abstract: The human TRMT1 gene encodes an RNA methyltransferase enzyme responsible for catalyzing dimethylguanosine (m2,2G) formation in transfer RNAs (tRNAs). Frameshift mutations in TRMT1 have been shown to cause autosomal‐recessive intellectual disability (ID) in the human… read more here.
Keywords: intellectual disability; trmt1; trna modification; missense variant ... See more keywords
Proteolytic cleavage and inactivation of the TRMT1 tRNA modification enzyme by SARS-CoV-2 main protease
Sign Up to like & getrecommendations! Published in 2024 at "eLife"
DOI: 10.7554/elife.90316
Abstract: Nonstructural protein 5 (Nsp5) is the main protease of SARS-CoV-2 that cleaves viral polyproteins into individual polypeptides necessary for viral replication. Here, we show that Nsp5 binds and cleaves human tRNA methyltransferase 1 (TRMT1), a… read more here.
Keywords: sars cov; trmt1; main protease; trna modification ... See more keywords