The mitochondrial genome encodes core subunits of the respiratory chain that drives
oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in …

Abstract tRNAs are key adaptor molecules that decipher the genetic code during translation
of mRNAs in protein synthesis. In contrast to the traditional view of tRNAs as ubiquitously …

Ferroptosis is a form of regulated necrotic cell death controlled by glutathione peroxidase 4
(GPX4). At present, mechanisms that could predict sensitivity and/or resistance and that may …

Across a variety of Mendelian disorders,∼ 50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions …

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

Importance Mitochondrial disorders have emerged as a common cause of inherited disease,
but their diagnosis remains challenging. Multiple respiratory chain complex defects are …

Eukaryotic transfer RNA (tRNA) precursors undergo sequential processing steps to become
mature tRNAs. In humans, ELAC2 carries out 3′ end processing of both nucleus-encoded …

Cytoplasmic RNA granules play a central role in mRNA metabolism, but the importance of
mitochondrial RNA granules remains relatively unexplored. We characterized their …

Epitranscriptome modifications are required for structure and function of RNA and defects in
these pathways have been associated with human disease. Here we identify the RNA target …

Ferroptosis is an iron-dependent form of cell death driven by biochemical processes that
promote oxidation within the lipid compartment. Calcium (Ca2+) is a signaling molecule in …