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) …

Mitochondrial DNA copy number in human disease: the more the better?

R Filograna, M Mennuni, D Alsina, NG Larsson - FEBS letters, 2021 - Wiley Online Library
Most of the genetic information has been lost or transferred to the nucleus during the
evolution of mitochondria. Nevertheless, mitochondria have retained their own genome that …

Mitochondrial diseases in man and mouse

DC Wallace - Science, 1999 - science.org
Over the past 10 years, mitochondrial defects have been implicated in a wide variety of
degenerative diseases, aging, and cancer. Studies on patients with these diseases have …

[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 …

Human mitochondrial DNA: roles of inherited and somatic mutations

EA Schon, S DiMauro, M Hirano - Nature Reviews Genetics, 2012 - nature.com
Mutations in the human mitochondrial genome are known to cause an array of diverse
disorders, most of which are maternally inherited, and all of which are associated with …

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

DC Wallace - Science, 1992 - science.org
Studies of diseases caused by mitochondrial DNA mutations suggest that a variety of
degenerative processes may be associated with defects in oxidative phosphorylation …

Molecular mechanisms of insulin resistance in humans and their potential links with mitochondrial dysfunction

K Morino, KF Petersen, GI Shulman - Diabetes, 2006 - Am Diabetes Assoc
Recent studies using magnetic resonance spectroscopy have shown that decreased insulin-
stimulated muscle glycogen synthesis due to a defect in insulin-stimulated glucose transport …

Oxidative damage to mitochondrial DNA shows marked age‐dependent increases in human brain

P Mecocci, U MacGarvey, AE Kaufman… - Annals of Neurology …, 1993 - Wiley Online Library
A major theory of aging is that oxidative damage may accumulate in DNA and contribute to
physiological changes associated with aging. We examined age‐related accumulation of …

Mitochondrial DNA damage and dysfunction associated with oxidative stress in failing hearts after myocardial infarction

T Ide, H Tsutsui, S Hayashidani, D Kang… - Circulation …, 2001 - Am Heart Assoc
Mitochondria are one of the enzymatic sources of reactive oxygen species (ROS) and could
also be a major target for ROS-mediated damage. We hypothesized that ROS may induce …

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

I Nishino, A Spinazzola, M Hirano - Science, 1999 - science.org
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive
human disease associated with multiple deletions of skeletal muscle mitochondrial DNA …