Mitochondrial disorders are highly heterogeneous conditions characterized by defects of the
mitochondrial respiratory chain. Pharmacological activation of mitochondrial biogenesis has …

The transcription factor EB (TFEB) is an essential component of lysosomal biogenesis and
autophagy for the adaptive response to food deprivation. To address the physiological …

Increased levels of the mitochondria-shaping protein Opa1 improve respiratory chain
efficiency and protect from tissue damage, suggesting that it could be an attractive target to …

Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2
gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity …

Acinar cell carcinoma (ACC) is a rare pancreatic cancer which may be difficult to distinguish
from other solid nonadenocarcinoma tumors. The diagnosis depends on the demonstration …

Cytochrome c oxidase (COX) deficiency is a frequent biochemical abnormality in
mitochondrial disorders, but a large fraction of cases remains genetically undetermined …

The age-dependent declines of skeletal muscle and cognitive functions often coexist in
elderly subjects. The underlying pathophysiological mechanisms share common features of …

Mutations in human MPV17 cause a hepatocerebral form of mitochondrial DNA depletion
syndrome (MDS) hallmarked by early-onset liver failure, leading to premature death. Liver …

Mitochondria are highly dynamic organelles, undergoing continuous fission and fusion. The
DNM1L (dynamin‐1 like) gene encodes for the DRP1 protein, an evolutionary conserved …

Gastrointestinal stromal tumors (GISTs) are c-Kit-positive neoplasms of the digestive tract.
Few studies have reported their real incidence and malignancy. Two systems of risk …