The ability of chemical modifications of single nucleotides to alter the electrostatic charge,
hydrophobic surface and base pairing of RNA molecules is exploited for the clinical use of …

Transfer RNA (tRNA) is an adapter molecule that links a specific codon in mRNA with its
corresponding amino acid during protein synthesis. tRNAs are enzymatically modified post …

Natural mitochondrial DNA (mtDNA) mutations enable the inference of clonal relationships
among cells. mtDNA can be profiled along with measures of cell state, but has not yet been …

Globally, diabetes is the leading cause of chronic kidney disease and end-stage renal
disease, which are major risk factors for cardiovascular disease and death. Despite this …

The study of eukaryotic tRNA processing has given rise to an explosion of new information
and insights in the last several years. We now have unprecedented knowledge of each step …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Transfer RNA (tRNA) is present at tens of millions of transcripts in a human cell and is the
most abundant RNA in moles among all cellular RNAs. tRNA is also the most extensively …

Mitochondria are the major source of ATP in the cell. Five multi-subunit complexes in the
inner membrane of the organelle are involved in the oxidative phosphorylation required for …

Mitochondrial disease is hugely diverse with respect to associated clinical presentations and
underlying genetic causes, with pathogenic variants in over 300 disease genes currently …

tRNA molecules are post‐transcriptionally modified by tRNA modification enzymes.
Although composed of different chemistries, more than 40 types of human tRNA …