The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
JB Stewart, PF Chinnery - Nature Reviews Genetics, 2015 - nature.com
Common genetic variants of mitochondrial DNA (mtDNA) increase the risk of developing
several of the major health issues facing the western world, including neurodegenerative …
several of the major health issues facing the western world, including neurodegenerative …
Inflammaging and anti-inflammaging: a systemic perspective on aging and longevity emerged from studies in humans
A large part of the aging phenotype, including immunosenescence, is explained by an
imbalance between inflammatory and anti-inflammatory networks, which results in the low …
imbalance between inflammatory and anti-inflammatory networks, which results in the low …
Mitochondrial dysfunction as a cause of optic neuropathies
Mitochondria are increasingly recognized as central players in the life and death of cells and
especially of neurons. The energy-dependence of retinal ganglion cells (RGC) and their …
especially of neurons. The energy-dependence of retinal ganglion cells (RGC) and their …
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy
Leber's hereditary optic neuropathy is a maternally inherited blinding disease caused as a
result of homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. It is …
result of homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. It is …
Multidimensional drug profiling by automated microscopy
ZE Perlman, MD Slack, Y Feng, TJ Mitchison, LF Wu… - Science, 2004 - science.org
We present a method for high-throughput cytological profiling by microscopy. Our system
provides quantitative multidimensional measures of individual cell states over wide ranges …
provides quantitative multidimensional measures of individual cell states over wide ranges …
An Incompatibility between a Mitochondrial tRNA and Its Nuclear-Encoded tRNA Synthetase Compromises Development and Fitness in Drosophila
CD Meiklejohn, MA Holmbeck, MA Siddiq, DN Abt… - PLoS …, 2013 - journals.plos.org
Mitochondrial transcription, translation, and respiration require interactions between genes
encoded in two distinct genomes, generating the potential for mutations in nuclear and …
encoded in two distinct genomes, generating the potential for mutations in nuclear and …
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy
A Danese, S Patergnani, A Maresca, C Peron… - Cell Reports, 2022 - cell.com
Leber's hereditary optic neuropathy (LHON), a disease associated with a mitochondrial DNA
mutation, is characterized by blindness due to degeneration of retinal ganglion cells (RGCs) …
mutation, is characterized by blindness due to degeneration of retinal ganglion cells (RGCs) …
[HTML][HTML] The epidemiology of mitochondrial disorders—past, present and future
AM Schaefer, RW Taylor, DM Turnbull… - Biochimica et Biophysica …, 2004 - Elsevier
A number of epidemiological studies of mitochondrial disease have been carried out over
the last decade, clearly demonstrating that mitochondrial disorders are far more common …
the last decade, clearly demonstrating that mitochondrial disorders are far more common …
Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management
MGD Bates, JP Bourke, C Giordano… - European heart …, 2012 - academic.oup.com
Mitochondrial disease refers to a heterogenous group of genetic disorders that result from
dysfunction of the final common pathway of energy metabolism. Mitochondrial DNA …
dysfunction of the final common pathway of energy metabolism. Mitochondrial DNA …
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA)
polymerase γ (POLG1) have recently been described in patients with diverse clinical …
polymerase γ (POLG1) have recently been described in patients with diverse clinical …