Patients with primary mitochondrial oxidative phosphorylation (OxPhos) defects present with
fatigue and multi-system disorders, are often lean, and die prematurely, but the mechanistic …

Disorders of ATP synthase, the key enzyme in mitochondrial energy supply, belong to the
most severe metabolic diseases, manifesting as early-onset mitochondrial encephalo …

Inborn errors of metabolism are related to mitochondrial disorders caused by dysfunction of
the oxidative phosphorylation (OXPHOS) system. Congenital hypermetabolism in the infant …

Introduction Diabetic ketoacidosis (DKA) is a severe and potentially fatal acute complication
in diabetic patients, commonly occurring in type 1 diabetes (T1D) but also seen in type 2 …

Abstract ATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the
mitochondrial respiratory chain. Pathogenic variants in nuclear genes encoding assembly …

Random mutagenesis, including when it leads to loss of gene function, is a key mechanism
enabling microorganisms' long-term adaptation to new environments. However, loss-of …

Mitochondrial thermogenesis is a process in which heat is generated by mitochondrial
respiration. In living organisms, the thermogenic mechanisms that maintain body …

Four decades of research highlighted a significant role for mitochondrial dysfunction in the
pathogenesis of movement disorders. A first milestone was set by the discovery that the …

In vivo control over metabolism is at the cutting edge of biomedical research. The particulars
of mitochondrial function are especially important to understand in vivo to progress …

Mild uncoupling of oxidative phosphorylation is an intrinsic property of all mitochondria,
allowing for adjustments in cellular energy metabolism to maintain metabolic homeostasis …