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 …

Cilia are plasma membrane protrusions that act as cellular propellers or antennae. To
perform these functions, cilia must maintain a composition distinct from those of the …

Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …

Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically
heterogeneous, and a significant number of genes have been associated with both …

Cytochrome c oxidase is the terminal complex of eukaryotic oxidative phosphorylation in
mitochondria. This process couples the reduction of electron carriers during metabolism to …

Mitochondria provide the main source of energy to eukaryotic cells, oxidizing fats and sugars
to generate ATP. Mitochondrial fatty acid β-oxidation (FAO) and oxidative phosphorylation …

Background Therapy resistance in cancer is often driven by a subpopulation of cells that are
temporarily arrested in a non-proliferative G0 state, which is difficult to capture and whose …

This review presents our current understanding of the pathophysiology and potential
treatment strategies with respect to mitochondrial disease in children. We focus on …

Copy‐number variations (CNV s) are a common cause of intellectual disability and/or
multiple congenital anomalies (ID/MCA). However, the clinical interpretation of CNV s …

The mitochondrial respiratory chain (MRC) is comprised of~ 92 nuclear and mitochondrial
DNA-encoded protein subunits that are organized into five different multi-subunit respiratory …