POLG-related disorders and their neurological manifestations

S Rahman, WC Copeland - Nature Reviews Neurology, 2019 - nature.com
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …

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 …

Mitochondrial DNA mosaicism in normal human somatic cells

J An, CH Nam, R Kim, Y Lee, H Won, S Park, WH Lee… - Nature Genetics, 2024 - nature.com
Somatic cells accumulate genomic alterations with age; however, our understanding of
mitochondrial DNA (mtDNA) mosaicism remains limited. Here we investigated the genomes …

Mitochondrial homeostasis and cellular senescence

PVS Vasileiou, K Evangelou, K Vlasis, MI Panayiotidis… - Cells, 2019 - mdpi.com
Cellular senescence refers to a stress response aiming to preserve cellular and, therefore,
organismal homeostasis. Importantly, deregulation of mitochondrial homeostatic …

Functional mitochondria in health and disease

PM Herst, MR Rowe, GM Carson… - Frontiers in …, 2017 - frontiersin.org
The ability to rapidly adapt cellular bioenergetic capabilities to meet rapidly changing
environmental conditions is mandatory for normal cellular function and for cancer …

Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage

SR Kennedy, JJ Salk, MW Schmitt, LA Loeb - PLoS genetics, 2013 - journals.plos.org
Mitochondrial DNA (mtDNA) is believed to be highly vulnerable to age-associated damage
and mutagenesis by reactive oxygen species (ROS). However, somatic mtDNA mutations …

Mitochondrial DNA replication in mammalian cells: overview of the pathway

M Falkenberg - Essays in biochemistry, 2018 - portlandpress.com
Mammalian mitochondria contain multiple copies of a circular, double-stranded DNA
genome and a dedicated DNA replication machinery is required for its maintenance. Many …

DNA replication fidelity

TA Kunkel - Journal of Biological Chemistry, 2004 - ASBMB
When describing the structure of the DNA double helix, Watson and Crick (1) wrote,“It has
not escaped our notice that the specific pairing we have postulated immediately suggests a …

The fidelity of DNA synthesis by eukaryotic replicative and translesion synthesis polymerases

SD McCulloch, TA Kunkel - Cell research, 2008 - nature.com
In their seminal publication describing the structure of the DNA double helix 1, Watson and
Crick wrote what may be one of the greatest understatements in the scientific literature …

Mitochondrial toxicity of NRTI antiviral drugs: an integrated cellular perspective

W Lewis, BJ Day, WC Copeland - Nature reviews Drug discovery, 2003 - nature.com
Highly active antiretroviral therapy (HAART) regimes based on nucleoside reverse
transcriptase inhibitors (NRTIs) have revolutionized the treatment of AIDS in recent years …