Mitochondrial DNA integrity: role in health and disease

P Sharma, H Sampath - Cells, 2019 - mdpi.com
As the primary cellular location for respiration and energy production, mitochondria serve in
a critical capacity to the cell. Yet, by virtue of this very function of respiration, mitochondria …

Mitochondrial DNA mutations in human disease

RW Taylor, DM Turnbull - Nature Reviews Genetics, 2005 - nature.com
The human mitochondrial genome is extremely small compared with the nuclear genome,
and mitochondrial genetics presents unique clinical and experimental challenges. Despite …

Mitochondrial transcription factor A regulates mtDNA copy number in mammals

MI Ekstrand, M Falkenberg, A Rantanen… - Human molecular …, 2004 - academic.oup.com
Mitochondrial DNA (mtDNA) copy number regulation is altered in several human mtDNA-
mutation diseases and it is also important in a variety of normal physiological processes …

DNA replication and transcription in mammalian mitochondria

M Falkenberg, NG Larsson… - Annu. Rev. Biochem., 2007 - annualreviews.org
The mitochondrion was originally a free-living prokaryotic organism, which explains the
presence of a compact mammalian mitochondrial DNA (mtDNA) in contempory mammalian …

DNA polymerase γ, the mitochondrial replicase

LS Kaguni - Annual review of biochemistry, 2004 - annualreviews.org
▪ Abstract DNA polymerase (pol) γ is the sole DNA polymerase in animal mitochondria.
Biochemical and genetic evidence document a key role for pol γ in mitochondrial DNA …

Genetic aspects of mitochondrial genome evolution

M Bernt, A Braband, B Schierwater… - Molecular phylogenetics …, 2013 - Elsevier
Many years of extensive studies of metazoan mitochondrial genomes have established
differences in gene arrangements and genetic codes as valuable phylogenetic markers …

What causes mitochondrial DNA deletions in human cells?

KJ Krishnan, AK Reeve, DC Samuels, PF Chinnery… - Nature …, 2008 - nature.com
Mitochondrial DNA (mtDNA) deletions are a primary cause of mitochondrial disease and are
likely to have a central role in the aging of postmitotic tissues. Understanding the mechanism …

Architectural role of mitochondrial transcription factor A in maintenance of human mitochondrial DNA

T Kanki, K Ohgaki, M Gaspari… - … and cellular biology, 2004 - Am Soc Microbiol
Mitochondrial transcription factor A (TFAM), a transcription factor for mitochondrial DNA
(mtDNA) that also possesses the property of nonspecific DNA binding, is essential for …

Human mitochondrial DNA replication

IJ Holt, A Reyes - Cold Spring Harbor perspectives in …, 2012 - cshperspectives.cshlp.org
Elucidation of the process of DNA replication in mitochondria is in its infancy. For many
years, maintenance of the mitochondrial genome was regarded as greatly simplified …

DNA precursor metabolism and genomic stability

CK Mathews - The FASEB Journal, 2006 - Wiley Online Library
Intracellular concentrations of the four deoxyribonucleoside triphosphates (dNTPs) are
closely regulated, and imbalances in the four dNTP pools have genotoxic consequences …