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

Mitochondria are double-membrane organelles that contain their own genome, the
mitochondrial DNA (mtDNA), and reminiscent of its endosymbiotic origin. Mitochondria are …

Mitochondria produce the bulk of the energy used by almost all eukaryotic cells through
oxidative phosphorylation (OXPHOS) which occurs on the four complexes of the respiratory …

Lysine crotonylation modification is a novel acylation modification that is similar to
acetylation modification. Studies have found that protein acetylation plays an important …

Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus
categorized into several subtypes. However, the recent bloom of disease–gene discoveries …

The determination of the functional impact of variants of uncertain significance (VUS) is one
of the major bottlenecks in the diagnostic workflow of inherited genetic diseases. To face this …

Mitochondria are pivotal for normal cellular physiology, as they perform a crucial role in
diverse cellular functions and processes, including respiration and the regulation of …

Objective Neonatal-onset mitochondrial disease has not been fully characterised owing to
its heterogeneity. We analysed neonatal-onset mitochondrial disease in Japan to clarify its …

Mitochondrial dysfunction is critical for the development and progression of cardiovascular
diseases (CVDs). Complex-1 (CI) is an essential component of the mitochondrial electron …

Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disease and
in most cases is caused by mutations in mitochondrial DNA–encoded (mtDNA-encoded) …