Mitochondrial disorders are monogenic disorders characterized by a defect in oxidative
phosphorylation and caused by pathogenic variants in one of over 340 different genes. The …

Next-generation sequencing (NGS) has increased our understanding of the molecular basis
of many primary mitochondrial diseases (PMDs). Despite this progress, many patients with …

Mitochondrial stress triggers a response in the cell's mitochondria and nucleus, but how
these stress responses are coordinated in vivo is poorly understood. Here, we characterize …

Mitochondrial function is fundamental to maintaining metabolic homeostasis. Alterations in
mitochondrial biogenesis, energy production, and dynamics are behind many metabolic …

Mitochondrial diseases are clinically and genetically heterogeneous disorders, caused by
pathogenic variants in either the nuclear or mitochondrial genome. This heterogeneity is …

Mitochondrial dysfunction in skeletal muscle fibres occurs with both healthy aging and a
range of neuromuscular diseases. The impact of mitochondrial dysfunction in skeletal …

Purpose This study aimed to define the genotypic and phenotypic spectrum of reversible
acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and …

Mitochondrial cardiomyopathies are fatal diseases, with no effective treatment. Alterations of
heart mitochondrial function activate the mitochondrial integrated stress response (ISR mt), a …

Mitochondria generate the energy to sustain cell viability and serve as a hub for cell
signalling. Their own genome (mtDNA) encodes genes critical for oxidative phosphorylation …

Myopathies secondary to mitochondrial electron transport chain (ETC) dysfunction can result
in devastating disease. While the consequences of ETC defects have been extensively …