TRNT1 Antibody

1. In vitro studies on disease-linked variants of human tRNA nucleotidyltransferase have revealed 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 were used in research. PMID: 28390992
3. Data indicates that disease-causing mutations in patient-derived fibroblasts do not affect the subcellular localization of TRNT1 and exhibit no gross morphological differences compared to control cells. PMID: 27317422
4. This research expands the ocular and systemic phenotypes associated with mutations in TRNT1, highlighting phenotypic variability and emphasizing the need for ophthalmic review of these patients. PMID: 27389523
5. Two non-syndromic retinitis pigmentosa pedigrees with segregating mutations in TRNT1 were studied. PMID: 26494905
6. The clinical phenotypes associated with TRNT1 mutations are primarily attributed to impaired mitochondrial translation, arising from defective CCA addition to mitochondrial tRNA(Ser(AGY)). PMID: 25652405
7. A model of action is proposed, suggesting that motif C acts as 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 serves as a crucial substrate recognition element for tRNA nucleotidyltransferases. PMID: 25958396
9. Tandem CCA addition is not a result of a modified enzymatic activity specific to unstable RNAs. It is instead a consequence of the natural activity of the CCA-adding enzyme on a substrate with increased conformational flexibility. The CCA-adding enzyme has the ability to trigger the degradation of potentially detrimental small RNAs and tRNAs. PMID: 25640237
10. Patient-associated TRNT1 mutations lead to partial loss of function of TRNT1, resulting in metabolic defects in both 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, 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 its in vivo function remains unclear. PMID: 17204286
14. TRNT1 is an RNA polymerase that adds a CCA sequence to the 3' terminal of tRNA. This reaction has been termed 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