TRNT1 Antibody

1. In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity. PMID: 29454993
2. patient-specific induced pluripotent stem cells (iPSCs) and iPSC-derived retinal organoids from dermal fibroblasts of patients with molecularly confirmed TRNT1-associated retinitis pigmentosa. PMID: 28390992
3. Data show that the disease causing mutations in patient-derived fibroblasts do not affect subcellular localization of TRNT1 and show no gross morphological differences when compared to control cells. PMID: 27317422
4. family expands the ocular and systemic phenotypes associated with mutations in TRNT1, demonstrating phenotypic variability and highlighting the need for ophthalmic review of these patients. PMID: 27389523
5. two non-syndromic retinitis pigmentosa pedigrees with segregating mutations in TRNT1 PMID: 26494905
6. The clinical phenotypes associated with TRNT1 mutations are largely due to impaired mitochondrial translation, resulting from defective CCA addition to mitochondrial tRNA(Ser(AGY)). PMID: 25652405
7. A model of action is proposed, where motif C forms a flexible spring element modulating the relative orientation of the enzyme's head and body domains to accommodate the growing 3'-end of the tRNA. PMID: 25849199
8. The discriminator base represents an important substrate recognition element for tRNA nucleotidyltransferases. PMID: 25958396
9. Tandem CCA addition is not the result of a modified enzymatic activity that is particular to unstable RNAs. Rather, it is a consequence of the natural activity of the CCA-adding enzyme on a substrate with increased conformational flexibility, the CCA-adding enzyme is able to trigger the degradation of potentially detrimental small RNAs and tRNAs. PMID: 25640237
10. The patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy. PMID: 25193871
11. human gene transcript CGI-47 (#AF151805) was cloned and encodes a bona fide CCA-adding enzyme and not a poly(A) polymerase. PMID: 11727826
12. The crystal structure reveals a four domain architecture with a cluster of conserved residues forming a positively charged cleft between the first two domains. PMID: 12729736
13. These findings strongly suggest that the splice variant of the human CCA-adding enzyme is expressed in the cell although the in vivo function remains unclear. PMID: 17204286
14. is a RNA polymerase which newly adds CCA sequence to tRNA 3'terminal. This reaction was named as Vice-Anchored Knock-in and Lock Dynamics.[review] PMID: 18575231

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HGNC: 17341

OMIM: 612907

KEGG: hsa:51095

STRING: 9606.ENSP00000251607

UniGene: Hs.732725