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

Mitochondria are cellular organelles responsible for generation of chemical energy in the
process called oxidative phosphorylation. They originate from a bacterial ancestor and …

Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …

Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …

Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

Mitochondria are dynamic bioenergetic organelles whose maintenance requires around
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …

Mitochondria are one of the most important organelles in cells. Mitochondria are semi-
autonomous organelles with their own genetic system, and can independently replicate …

Inherited disorders of oxidative phosphorylation cause the clinically and genetically
heterogeneous diseases known as mitochondrial energy generation disorders, or …

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

Translation of mitochondrial messenger RNA (mt-mRNA) is performed by distinct
mitoribosomes comprising at least 36 mitochondria-specific proteins. How these …