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Article

Diseases Associated with Defects in tRNA CCA Addition

27 May 2020

Abstract excerpt

tRNA nucleotidyl transferase 1 (TRNT1) is an essential enzyme catalyzing the addition of terminal cytosine-cytosine-adenosine (CCA) trinucleotides to all mature tRNAs, which is necessary for aminoacylation. It was recently discovered that partial loss-of-function mutations in TRNT1 are associated with various, seemingly unrelated human diseases including sideroblastic anemia with B-cell immunodeficiency, periodic...

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PMID: 32471101
DOI: 10.3390/ijms21113780

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Diseases Associated with Defects in tRNA CCA AdditionPMID 32471101Read ↗

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Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.Semantic proximity Read ↗

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