Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

Human mitochondrial (mt) ATP synthase, or complex V consists of two functional domains: F
1, situated in the mitochondrial matrix, and F o, located in the inner mitochondrial …

The assessment of mitochondrial respiratory chain (RC) enzymatic activities is essential for
investigating mitochondrial function in several situations, including mitochondrial disorders …

Genetic mutations in TAR DNA-binding protein 43 (TARDBP, also known as TDP-43) cause
amyotrophic lateral sclerosis (ALS), and an increase in the presence of TDP-43 (encoded by …

Mitochondrial disorders have the highest incidence among congenital metabolic disorders
characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 …

Mitochondria are essential for numerous cellular processes, yet hundreds of their proteins
lack robust functional annotation. To reveal functions for these proteins (termed MXPs), we …

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

Mitochondrial respiratory chain (MRC) enzymes associate in supercomplexes (SC s) that
are structurally interdependent. This may explain why defects in a single component often …

Mitochondrial disorders are a group of clinically heterogeneous diseases, commonly
defined by a lack of cellular energy due to oxidative phosphorylation (OXPHOS) defects …

Both iron overload and iron deficiency have been associated with cardiomyopathy and heart
failure, but cardiac iron utilization is incompletely understood. We hypothesized that the …