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 …

[HTML][HTML] The mitochondrial genome: structure, transcription, translation and replication

JW Taanman - Biochimica et Biophysica Acta (BBA)-Bioenergetics, 1999 - Elsevier
Mitochondria play a central role in cellular energy provision. The organelles contain their
own genome with a modified genetic code. The mammalian mitochondrial genome is …

ER-mitochondria contacts couple mtDNA synthesis with mitochondrial division in human cells

SC Lewis, LF Uchiyama, J Nunnari - Science, 2016 - science.org
INTRODUCTION Mitochondria are endosymbiotic organelles that have their own genome
and perform many essential functions in eukaryotic cells, including ATP synthesis via …

Mitochondrial DNA maintenance in vertebrates

GS Shadel, DA Clayton - Annual review of biochemistry, 1997 - annualreviews.org
The discovery that mutations in mitochondrial DNA (mtDNA) can be pathogenic in humans
has increased interest in understanding mtDNA maintenance. The functional state of mtDNA …

[PDF][PDF] Genetics of human male infertility

J Poongothai, TS Gopenath, S Manonayaki - Singapore Med J, 2009 - smj.org.sg
Infertility is defined as a failure to conceive in a couple trying to reproduce for a period of two
years without conception. Approximately 15 percent of couples are infertile, and among …

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

G Van Goethem, B Dermaut, A Löfgren, JJ Martin… - Nature …, 2001 - nature.com
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale
mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped a new locus …

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 …

Reconstitution of a minimal mtDNA replisome in vitro

JA Korhonen, XH Pham, M Pellegrini… - The EMBO …, 2004 - embopress.org
We here reconstitute a minimal mammalian mitochondrial DNA (mtDNA) replisome in vitro.
The mtDNA polymerase (POLγ) cannot use double‐stranded DNA (dsDNA) as template for …

[HTML][HTML] Mitochondrial content reflects oocyte variability and fertilization outcome

TA Santos, S El Shourbagy, JCS John - Fertility and sterility, 2006 - Elsevier
OBJECTIVE: To determine the content of mitochondrial DNA (mtDNA) in oocytes from a
range of patients with fertilization success and failure. DESIGN: Analysis of mtDNA content …

Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases

KL DeBalsi, KE Hoff, WC Copeland - Ageing research reviews, 2017 - Elsevier
As regulators of bioenergetics in the cell and the primary source of endogenous reactive
oxygen species (ROS), dysfunctional mitochondria have been implicated for decades in the …