POLG-related disorders and their neurological manifestations
S Rahman, WC Copeland - Nature Reviews Neurology, 2019 - nature.com
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …
[HTML][HTML] Mitochondrial dysfunction in Parkinson's disease—cause or consequence?
James Parkinson first described the motor symptoms of the disease that took his name over
200 years ago. While our knowledge of many of the changes that occur in this condition has …
200 years ago. While our knowledge of many of the changes that occur in this condition has …
Quantitative mitochondrial DNA copy number determination using droplet digital PCR with single-cell resolution
Mitochondria are involved in a number of diverse cellular functions, including energy
production, metabolic regulation, apoptosis, calcium homeostasis, cell proliferation, and …
production, metabolic regulation, apoptosis, calcium homeostasis, cell proliferation, and …
The cellular mitochondrial genome landscape in disease
A Hahn, S Zuryn - Trends in Cell Biology, 2019 - cell.com
Mitochondrial genome (mitochondrial DNA, mtDNA) lesions that unbalance bioenergetic
and oxidative outputs are an important cause of human disease. A major impediment in our …
and oxidative outputs are an important cause of human disease. A major impediment in our …
Mitochondrial complex IV mutation increases reactive oxygen species production and reduces lifespan in aged mice
G Reichart, J Mayer, C Zehm, T Kirschstein… - Acta …, 2019 - Wiley Online Library
Abstract Aim Mitochondrial DNA (mtDNA) mutations can negatively influence lifespan and
organ function. More than 250 pathogenic mtDNA mutations are known, often involving …
organ function. More than 250 pathogenic mtDNA mutations are known, often involving …
基于甲基化的年龄推断模型构建与效能评估
李姗飞， 彭付端， 王建宁 - 法医学杂志, 2019 - fyxzz.cn
目的筛选与中国北方汉族男性个体年龄相关的DNA 甲基化位点并构建年龄推断模型.
方法筛选21 个候选甲基化位点, 使用EpiTYPER 技术平台在476 份汉族男性血液DNA …
方法筛选21 个候选甲基化位点, 使用EpiTYPER 技术平台在476 份汉族男性血液DNA …
Mitochondrial dysfunction as a key event during aging: from synaptic failure to memory loss
Mitochondria are important cellular organelles with key regulatory functions in energy
production, oxidative balance, and calcium homeostasis. This is especially important in the …
production, oxidative balance, and calcium homeostasis. This is especially important in the …
Mitochondria research in human reproduction
YX Lee, PH Lin, E Rahmawati, YY Ma, C Chan… - The ovary, 2019 - Elsevier
Mitochondria play an important role in producing the energy required for all cellular
functions. Mitochondrial disorders, which originate from pathogenic mitochondrial DNA …
functions. Mitochondrial disorders, which originate from pathogenic mitochondrial DNA …
Transmission of dysfunctional mitochondrial DNA and its implications for mammalian reproduction
K Srirattana, JC St. John - Cellular and Molecular Basis of Mitochondrial …, 2019 - Springer
Mitochondrial DNA (mtDNA) encodes proteins for the electron transport chain which
produces the vast majority of cellular energy. MtDNA has its own replication and …
produces the vast majority of cellular energy. MtDNA has its own replication and …
[HTML][HTML] Mitochondrial DNA depletion in sporadic inclusion body myositis
Sporadic inclusion body myositis (sIBM) is a late onset disorder of unkown aetiology.
Mitochondrial changes such as cytochrome oxidase deficient fibres are a well recognised …
Mitochondrial changes such as cytochrome oxidase deficient fibres are a well recognised …