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An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity
The human TRMT1 gene encodes an RNA methyltransferase enzyme responsible for catalyzing dimethylguanosine (m2,2G) formation in tRNAs. Frameshift mutations in TRMT1 have been shown to cause autosomal-recessive intellectual disability (ID) in the human population but additional TRMT1 variants remain t...
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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7981843/ https://ncbi.nlm.nih.gov/pubmed/31898845 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23976 |
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