Inherited mitochondrial DNA (mtDNA) diseases were discovered 30 years ago, and their
characterization has provided a new perspective on the etiology of the common metabolic …

The mitochondrial proteome encompasses more than a thousand proteins, which are
encoded by the mitochondrial and nuclear genomes. Mitochondrial biogenesis and network …

The peroxisome proliferator-activated receptors, PPARα, PPARβ, and PPARγ, are a family of
transcription factors activated by a diversity of molecules including fatty acids and fatty acid …

Emerging evidence suggests that the signalling of the Receptor for Advanced Glycation End
products (RAGE) is critical for skeletal muscle physiology controlling both the activity of …

Progressive external ophthalmoplegia (PEO), marked by progressive bilateral ptosis and
diffuse reduction in ocular motility, represents a finding of mitochondrial myopathy rather …

The oxidative phosphorylation (OXPHOS) system in mitochondria is responsible for the
generation of the majority of cellular energy in the form of ATP. Patients with genetic …

Background and Objectives Primary mitochondrial myopathies (PMMs) encompass a group
of genetic disorders that impair mitochondrial oxidative phosphorylation, adversely affecting …

Purpose To report the retinal phenotype and the associated genetic and systemic findings in
patients with mitochondrial disease. Design Retrospective case series. Participants Twenty …

First, it is outlined in which subtypes of NMD respiratory muscle dysfunction is particularly
relevant. Second, new developments regarding diagnostic procedures, including respiratory …

Bedaquiline (BDQ, Sirturo) has been approved to treat multidrug resistant forms of
Mycobacterium tuberculosis. Prior studies suggested that BDQ was a selective inhibitor of …