Mechanisms of replication and repair in mitochondrial DNA deletion formation
GA Fontana, HL Gahlon - Nucleic acids research, 2020 - academic.oup.com
Deletions in mitochondrial DNA (mtDNA) are associated with diverse human pathologies
including cancer, aging and mitochondrial disorders. Large-scale deletions span kilobases …
including cancer, aging and mitochondrial disorders. Large-scale deletions span kilobases …
The rise and rise of mitochondrial DNA mutations
How mitochondrial DNA mutations clonally expand in an individual cell is a question that
has perplexed mitochondrial biologists for decades. A growing body of literature indicates …
has perplexed mitochondrial biologists for decades. A growing body of literature indicates …
[HTML][HTML] Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes
DNA transfer from cytoplasmic organelles to the cell nucleus is a legacy of the
endosymbiotic event—the majority of nuclear-mitochondrial segments (NUMTs) are thought …
endosymbiotic event—the majority of nuclear-mitochondrial segments (NUMTs) are thought …
[HTML][HTML] Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
SA Lujan, MJ Longley, MH Humble, CA Lavender… - Genome biology, 2020 - Springer
Background Acquired human mitochondrial genome (mtDNA) deletions are symptoms and
drivers of focal mitochondrial respiratory deficiency, a pathological hallmark of aging and …
drivers of focal mitochondrial respiratory deficiency, a pathological hallmark of aging and …
[HTML][HTML] Mitochondrial DNA: impacting central and peripheral nervous systems
V Carelli, DC Chan - Neuron, 2014 - cell.com
Because of their high-energy metabolism, neurons are strictly dependent on mitochondria,
which generate cellular ATP through oxidative phosphorylation. The mitochondrial genome …
which generate cellular ATP through oxidative phosphorylation. The mitochondrial genome …
[HTML][HTML] Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review
Summary Background Mitochondrial DNA (mtDNA) encodes 37 genes necessary for
synthesizing 13 essential subunits of the oxidative phosphorylation system. mtDNA …
synthesizing 13 essential subunits of the oxidative phosphorylation system. mtDNA …
[HTML][HTML] Possible A2E mutagenic effects on RPE mitochondrial DNA from innovative RNA-seq bioinformatics pipeline
L Donato, C Scimone, S Alibrandi, A Pitruzzella… - Antioxidants, 2020 - mdpi.com
Mitochondria are subject to continuous oxidative stress stimuli that, over time, can impair
their genome and lead to several pathologies, like retinal degenerations. Our main purpose …
their genome and lead to several pathologies, like retinal degenerations. Our main purpose …
[HTML][HTML] Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions
FR Belmonte, JL Martin, K Frescura, J Damas… - Scientific reports, 2016 - nature.com
Mitochondrial DNA (mtDNA) mutations are a common cause of primary mitochondrial
disorders and have also been implicated in a broad collection of conditions, including aging …
disorders and have also been implicated in a broad collection of conditions, including aging …
[HTML][HTML] Mitochondrial DNA deletion syndromes
A Goldstein, MJ Falk - 2019 - europepmc.org
Mitochondrial DNA (mtDNA) deletion syndromes predominantly comprise three overlapping
phenotypes that are usually simplex (ie, a single occurrence in a family), but rarely may be …
phenotypes that are usually simplex (ie, a single occurrence in a family), but rarely may be …
[HTML][HTML] Bioinformatics tools and databases to assess the pathogenicity of mitochondrial DNA variants in the field of next generation sequencing
C Bris, D Goudenege, V Desquiret-Dumas… - Frontiers in …, 2018 - frontiersin.org
The development of next generation sequencing (NGS) has greatly enhanced the diagnosis
of mitochondrial disorders, with a systematic analysis of the whole mitochondrial DNA …
of mitochondrial disorders, with a systematic analysis of the whole mitochondrial DNA …