ArticleThe Journal of biological chemistry2016
A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.
Article in The Journal of biological chemistry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Emerging Role of Epitranscriptomics in Diabetes Mellitus and Its Complications.Frontiers in endocrinology · 2022Pooled it
- Trial
- The impact of psuedouridine modification on human tRNA.Biochemical Society transactions · 2026Review
- Mitochondrial DNA variation and intervertebral disc degeneration: a genotypic analysis in a South African cohort.Molecular biology reports · 2025Article
- Mitochondrial DNA Mutations and Epigenetic Regulation in Type 2 Diabetes Mellitus Development.British journal of biomedical science · 2025Review
- Deciphering the pseudouridine nucleobase modification in human diseases: From molecular mechanisms to clinical perspectives.Clinical and translational medicine · 2025Review
- Mitochondrial tRNAAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Functional analysis of the novel mitochondrial tRNAWorld journal of diabetes · 2024Article
- Decoding the 'Fifth' Nucleotide: Impact of RNA Pseudouridylation on Gene Expression and Human Disease.Molecular biotechnology · 2024Review
- Modifications in the T arm of tRNA globally determine tRNA maturation, function, and cellular fitness.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Maternally inherited non-syndromic hearing loss is linked with a novel mitochondrial ND6 gene mutation.Irish journal of medical science · 2024Article
- The clinical and genetic characteristics of maternally inherited diabetes and deafness (MIDD) with mitochondrial m.3243A > G mutation: A 10-year follow-up observation study and literature review.Clinical case reports · 2024Article
- Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa.African journal of laboratory medicine · 2024Article
- Identification of a Novel Mitochondrial tRNA Mutation in Chinese Family with Type 2 Diabetes Mellitus.Pharmacogenomics and personalized medicine · 2024Article
- The Association Between Mitochondrial tRNAPharmacogenomics and personalized medicine · 2024Article
- Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations.Journal of biomedical science · 2023Review
- The importance of pseudouridylation: human disorders related to the fifth nucleoside.Biologia futura · 2023Review
- Mitochondrial Diabetes Is Associated with theBiomolecules · 2023Article
- Ribonucleosides from tRNA in hyperglycemic mammalian cells and diabetic murine cardiac models.Life sciences · 2023Article
- Mitochondrial tRNAGln 4394C>T Mutation May Contribute to the Clinical Expression of 1555A>G-Induced DeafnessGenes · 2022Article
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several mitochondrial tRNA mutations have been associated with maternally inherited diabetes and deafness. However, the pathophysiology of these tRNA mutations remains poorly understood. In this report, we identified the novel homoplasmic 14692A→G mutation in the mitochondrial tRNA
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.