Results 21 to 30 of about 549,473 (268)

Mitochondrial DNA and disease [PDF]

The Journal of Pathology, 2011
AbstractMitochondrial DNA (mtDNA) defects are a relatively common cause of inherited disease and have been implicated in both ageing and cancer. MtDNA encodes essential subunits of the mitochondrial respiratory chain and defects result in impaired oxidative phosphorylation (OXPHOS).
Laura C, Greaves, Amy K, Reeve, Robert W, Taylor, Doug M, Turnbull   +3 more
openaire   +2 more sources

The Role of Mitochondria in Human Fertility and Early Embryo Development: What Can We Learn for Clinical Application of Assessing and Improving Mitochondrial DNA?

Cells, 2022
Mitochondria are well known as ‘the powerhouses of the cell’. Indeed, their major role is cellular energy production driven by both mitochondrial and nuclear DNA.
Amira Podolak, Izabela Woclawek-Potocka, Krzysztof Lukaszuk   +2 more
doaj   +1 more source

Defects of Mitochondrial DNA

Brain Pathology, 1992
In the past few years several syndromes have been associated with lesions of the human mitochondrial DNA. MtDNA is a small, circular extra‐nuclear chromosome encoding essential components of the respiratory chain. MtDNA‐related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged‐red ...
Zeviani M., Antozzi C.
openaire   +2 more sources

Structure–Function Analysis Reveals the Singularity of Plant Mitochondrial DNA Replication Components: A Mosaic and Redundant System

Plants, 2019
Plants are sessile organisms, and their DNA is particularly exposed to damaging agents. The integrity of plant mitochondrial and plastid genomes is necessary for cell survival.
Luis Gabriel Brieba
doaj   +1 more source

A new method for long-read sequencing of animal mitochondrial genomes: application to the identification of equine mitochondrial DNA variants

BMC Genomics, 2020
Background Mitochondrial DNA is remarkably polymorphic. This is why animal geneticists survey mitochondrial genomes variations for fundamental and applied purposes.
Sophie Dhorne-Pollet, Eric Barrey, Nicolas Pollet   +2 more
doaj   +1 more source

Mitochondrial DNA homeostasis: A novel therapeutic target for neurodegenerative diseases

Neural Regeneration Research
The mitochondrial genomic homeostasis is essential for the function of the oxidative phosphorylation system and cellular homeostasis. Mitochondrial DNA is particularly susceptible to aging-related oxidative stress due to the lack of a histone coat ...
Tingting Fu, Xinyi Chen, Shuting Zhang, Ying Fu, Ling Huang, Wandi Xiong   +5 more
doaj   +1 more source

Complete mitochondrial genomes of two marine monogonont rotifer Brachionus manjavacas strains

Mitochondrial DNA. Part B. Resources, 2021
The complete mitochondrial genomes of Brachionus manjavacas German strain were 10,721 bp (mitochondrial DNA I) and 12,274 bp (mitochondrial DNA II) in size, while the complete mitochondrial genomes of B.
Min-Sub Kim, Young Hwan Lee, Duck-Hyun Kim, Hee-Jin Kim, Un-Ki Hwang, Russell Shiel, Atsushi Hagiwara, Jae-Seong Lee   +7 more
doaj   +1 more source

Determination of Mitochondrial DNA Upon Drug Treatment

Bio-Protocol, 2015
Drug-induced mitochondrial injury can be caused by many different mechanisms including inhibition of mitochondrial DNA replication, transcription, translation, and altered protein function.
Michel Perron, Joy Feng
doaj   +1 more source

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

Frontiers in Genetics, 2020
Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described.
Dario Ronchi, Dario Ronchi, Leonardo Caporali, Giulia Francesca Manenti, Megi Meneri, Susan Mohamed, Andreina Bordoni, Francesca Tagliavini, Manuela Contin, Manuela Contin, Daniela Piga, Monica Sciacco, Cristina Saetti, Cristina Saetti, Valerio Carelli, Valerio Carelli, Giacomo Pietro Comi, Giacomo Pietro Comi   +17 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source