Mitochondrial disorders are among the most frequent inborn errors of metabolism, their
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …

Complex I (NADH: ubiquinone oxidoreductase) is the largest multimeric enzyme complex of
the mitochondrial respiratory chain, which is responsible for electron transport and the …

The chapter provides a review of the state of art of the oxidative phosphorylation system in
mammalian mitochondria. The sections of the paper deal with:(i) the respiratory chain as a …

Increased levels of the mitochondria-shaping protein Opa1 improve respiratory chain
efficiency and protect from tissue damage, suggesting that it could be an attractive target to …

To study effects of mitochondrial complex I (CI, NADH: ubiquinone oxidoreductase)
deficiency, we inactivated the Ndufs4 gene, which encodes an 18 kDa subunit of the 45 …

Leigh syndrome (also termed subacute, necrotizing encephalopathy) is a devastating
neurodegenerative disorder, characterized by almost identical brain changes, eg, focal …

Alternative splicing (AS) of protein-coding messenger RNAs is an essential regulatory
mechanism in eukaryotic gene expression that controls the proper function of proteins. It is …

Mitochondria are small cellular constituents that generate cellular energy (ATP) by oxidative
phosphorylation (OXPHOS). Dysfunction of these organelles is linked to a heterogeneous …

Oxidative phosphorylation (OXPHOS) has a prominent role in energy metabolism of the cell.
Being under bigenomic control, correct biogenesis and functioning of the OXPHOS system is …

NADH: ubiquinone oxidoreductase (complex I) deficiency is a common cause of
mitochondrial oxidative phosphorylation disease. It is associated with a wide range of …