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Defects in tRNA anticodon loop 2'-O-methylation are implicated in non-syndromic X-linked intellectual disability due to mutations in FTSJ1
tRNA modifications are crucial for efficient and accurate protein synthesis, and modification defects are frequently associated with disease. Yeast trm7Δ mutants grow poorly due to lack of 2'-O-methylated C(32) (Cm(32)) and Gm(34) on tRNA(Phe), catalyzed by Trm7-Trm732 and Trm7-Trm734 respectiv...
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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4643400/ https://ncbi.nlm.nih.gov/pubmed/26310293 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22897 |
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