Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a severe mitochondrial disorder
featuring multi-organ dysfunction. Mutations in either the ETFA, ETFB, and ETFDH genes …

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by
progressive muscle degeneration and weakness due to mutations in the dystrophin gene …

Functional and structural damages to mitochondria have been critically associated with the
pathogenesis of Down syndrome (DS), a human multifactorial disease caused by trisomy of …

Dynamic regulation of mitochondrial morphology provides cells with the flexibility required to
adapt and respond to electron transport chain (ETC) toxins and mitochondrial DNA-linked …

Mitochondria share extensive evolutionary conservation across nearly all living species.
This homology allows robust insights to be gained into pathophysiologic mechanisms and …

Many human diseases result from the influence of the nutritional environment on gene
expression. The environment interacts with the genome by altering the epigenome …

While the pathogenesis of Parkinson's disease (PD) is incompletely understood,
mitochondrial dysfunction is thought to play a crucial role in disease pathogenesis. Here, we …

NADK2 encodes the mitochondrial form of nicotinamide adenine dinucleotide (NAD) kinase,
which phosphorylates NAD. Rare recessive mutations in human NADK2 are associated with …

C. elegans is a model used to study cholesterol metabolism and the functions of its
metabolites. Several studies have reported that, in worms, cholesterol is not a structural …

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
is a mitochondrial disease caused by mutations in the mitochondrial genome. This study …