Most of the genetic information has been lost or transferred to the nucleus during the
evolution of mitochondria. Nevertheless, mitochondria have retained their own genome that …

Mitochondria are central hubs of cellular metabolism that also play key roles in signaling
and disease. It is therefore fundamentally important that mitochondrial quality and activity …

The POLG gene encodes the mitochondrial DNA polymerase that is responsible for
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …

Mitochondria provide numerous essential functions for cells and their dysfunction leads to a
variety of diseases. Thus, obtaining a complete mitochondrial proteome should be a crucial …

Mitophagy is a fundamental quality control mechanism of mitochondria. Its regulatory
mechanisms and pathological implications remain poorly understood. Here, via a …

The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-
encoded proteins including a battery of enzymes forming the replisome needed to …

Mitochondrial diseases are among the most common and most complex of all inherited
genetic diseases. The involvement of both the mitochondrial and nuclear genome presents …

The clinical successes of proteasome inhibitors for the treatment of cancer have highlighted
the therapeutic potential of targeting this protein degradation system. However, proteasome …

Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

Primary mitochondrial diseases are relatively common inborn errors of energy metabolism,
with a combined prevalence of 1 in 4300. These disorders typically affect tissues with high …