Mitochondrial diseases

GS Gorman, PF Chinnery, S DiMauro… - Nature reviews Disease …, 2016 - nature.com
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

Maintenance and expression of mammalian mitochondrial DNA

CM Gustafsson, M Falkenberg… - Annual review of …, 2016 - annualreviews.org
Mammalian mitochondrial DNA (mtDNA) encodes 13 proteins that are essential for the
function of the oxidative phosphorylation system, which is composed of four respiratory …

Base excision repair

HE Krokan, M Bjørås - Cold Spring Harbor perspectives …, 2013 - cshperspectives.cshlp.org
Base excision repair (BER) corrects DNA damage from oxidation, deamination and
alkylation. Such base lesions cause little distortion to the DNA helix structure. BER is …

Plant mitochondrial genomes: dynamics and mechanisms of mutation

JM Gualberto, KJ Newton - Annual review of plant biology, 2017 - annualreviews.org
The large mitochondrial genomes of angiosperms are unusually dynamic because of
recombination activities involving repeated sequences. These activities generate …

The maintenance of mitochondrial DNA integrity—critical analysis and update

M Alexeyev, I Shokolenko… - Cold Spring Harbor …, 2013 - cshperspectives.cshlp.org
DNA molecules in mitochondria, just like those in the nucleus of eukaryotic cells, are
constantly damaged by noxious agents. Eukaryotic cells have developed efficient …

[HTML][HTML] Linear mitochondrial DNA is rapidly degraded by components of the replication machinery

V Peeva, D Blei, G Trombly, S Corsi… - Nature …, 2018 - nature.com
Emerging gene therapy approaches that aim to eliminate pathogenic mutations of
mitochondrial DNA (mtDNA) rely on efficient degradation of linearized mtDNA, but the …

Minimizing the damage: repair pathways keep mitochondrial DNA intact

L Kazak, A Reyes, IJ Holt - Nature reviews Molecular cell biology, 2012 - nature.com
Mitochondrial DNA (mtDNA) faces the universal challenges of genome maintenance: the
accurate replication, transmission and preservation of its integrity throughout the life of the …

DNA helicases involved in DNA repair and their roles in cancer

RM Brosh Jr - Nature Reviews Cancer, 2013 - nature.com
Helicases have major roles in genome maintenance by unwinding structured nucleic acids.
Their prominence is marked by various cancers and genetic disorders that are linked to …

Somatic mitochondrial DNA mutations in mammalian aging

NG Larsson - Annual review of biochemistry, 2010 - annualreviews.org
Mitochondrial dysfunction is heavily implicated in the multifactorial aging process. Aging
humans have increased levels of somatic mtDNA mutations that tend to undergo clonal …

Mechanism of the ATP-dependent DNA end-resection machinery from Saccharomyces cerevisiae

H Niu, WH Chung, Z Zhu, Y Kwon, W Zhao, P Chi… - Nature, 2010 - nature.com
If not properly processed and repaired, DNA double-strand breaks (DSBs) can give rise to
deleterious chromosome rearrangements, which could ultimately lead to the tumour …