Mechanisms and regulation of human mitochondrial transcription

BG Tan, CM Gustafsson, M Falkenberg - Nature Reviews Molecular Cell …, 2024 - nature.com
The expression of mitochondrial genes is regulated in response to the metabolic needs of
different cell types, but the basic mechanisms underlying this process are still poorly …

Extreme heterogeneity of human mitochondrial DNA from organelles to populations

JB Stewart, PF Chinnery - Nature Reviews Genetics, 2021 - nature.com
Contrary to the long-held view that most humans harbour only identical mitochondrial
genomes, deep resequencing has uncovered unanticipated extreme genetic variation within …

Small-molecule inhibitors of human mitochondrial DNA transcription

NA Bonekamp, B Peter, HS Hillen, A Felser… - Nature, 2020 - nature.com
Altered expression of mitochondrial DNA (mtDNA) occurs in ageing and a range of human
pathologies (for example, inborn errors of metabolism, neurodegeneration and cancer) …

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 …

Adaptation to mitochondrial stress requires CHOP-directed tuning of ISR

S Kaspar, C Oertlin, K Szczepanowska, A Kukat… - Science …, 2021 - science.org
In response to disturbed mitochondrial gene expression and protein synthesis, an adaptive
transcriptional response sharing a signature of the integrated stress response (ISR) is …

Transcriptomic and proteomic landscape of mitochondrial dysfunction reveals secondary coenzyme Q deficiency in mammals

I Kühl, M Miranda, I Atanassov, I Kuznetsova, Y Hinze… - elife, 2017 - elifesciences.org
Dysfunction of the oxidative phosphorylation (OXPHOS) system is a major cause of human
disease and the cellular consequences are highly complex. Here, we present comparative …

Mitochondrial OXPHOS biogenesis: co-regulation of protein synthesis, import, and assembly pathways

JX Tang, K Thompson, RW Taylor… - International Journal of …, 2020 - mdpi.com
The assembly of mitochondrial oxidative phosphorylation (OXPHOS) complexes is an
intricate process, which—given their dual-genetic control—requires tight co-regulation of two …

Mitochondrial fusion is required for regulation of mitochondrial DNA replication

E Silva Ramos, E Motori, C Brüser, I Kühl… - PLoS …, 2019 - journals.plos.org
Mitochondrial dynamics is an essential physiological process controlling mitochondrial
content mixing and mobility to ensure proper function and localization of mitochondria at …

Hierarchical RNA processing is required for mitochondrial ribosome assembly

O Rackham, JD Busch, S Matic, SJ Siira, I Kuznetsova… - Cell reports, 2016 - cell.com
The regulation of mitochondrial RNA processing and its importance for ribosome biogenesis
and energy metabolism are not clear. We generated conditional knockout mice of the …

Single-molecule analysis of mtDNA replication uncovers the basis of the common deletion

AF Phillips, AR Millet, M Tigano, SM Dubois… - Molecular cell, 2017 - cell.com
Mutations in mtDNA lead to muscular and neurological diseases and are linked to aging.
The most frequent aberrancy is the" common deletion" that involves a 4,977-bp region …