Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically
heterogeneous group of autosomal recessive disorders that are characterized by a severe …

Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the
focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) …

Mitochondrial DNA depletion syndrome has become an important cause of inherited
metabolic disorders, especially in children, but also in adults. The manifestations vary from …

Mitochondrial disorders are complex and heterogeneous diseases that may be caused by
molecular defects in either the nuclear or mitochondrial genome. The biosynthesis and …

Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA
depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and …

Maintenance of mitochondrial DNA (mtDNA) homeostasis includes a variety of processes,
such as mtDNA replication, repair, and nucleotides synthesis, aimed at preserving the …

Abstract Background: The mitochondrial DNA (mtDNA) depletion syndromes (MDDSs) are
autosomal recessive disorders characterized by a reduction in cellular mtDNA content …

Mitochondrial diseases (MDs) are a group of severe genetic disorders caused by mutations
in the nuclear or mitochondrial genome encoding proteins involved in the oxidative …

In the skin of adult zebrafish, three pigment cell types arrange into alternating horizontal
stripes, melanophores in dark stripes, xanthophores in light interstripes and iridophores in …

Mitochondrial disorders are a group of complex and heterogeneous diseases that may be
caused by molecular defects in the nuclear or mitochondrial genome. The biosynthesis and …