Results 61 to 70 of about 10,435,022 (365)

Clinically translatable mitochondrial gene therapy in muscle using tandem mtZFN architecture

EMBO Molecular Medicine
Mutations in the mitochondrial genome (mtDNA) often lead to clinical pathologies. Mitochondrially-targeted zinc finger nucleases (mtZFNs) have been successful in reducing the levels of mutation-bearing mtDNA both in vivo and in vitro, resulting in a ...
Pavel A Nash, Keira M Turner, Christopher A Powell, Lindsey Van Haute, Pedro Silva-Pinheiro, Felix Bubeck, Ellen Wiedtke, Eloïse Marques, Dylan G Ryan, Dirk Grimm, Payam A Gammage, Michal Minczuk   +11 more
doaj   +1 more source

Effects of oxidative stress on hepatic encephalopathy pathogenesis in mice

Nature Communications, 2023
Oxidative stress plays a crucial role in the pathogenesis of hepatic encephalopathy (HE), but the mechanism remains unclear. GABAergic neurons in substantia nigra pars reticulata (SNr) contribute to the motor deficit of HE.
Yunhu Bai, Kenan Li, Xiaodong Li, Xiyu Chen, Jie Zheng, Feifei Wu, Jinghao Chen, Ze Li, Shuai Zhang, Kun Wu, Yong Chen, Yayun Wang, Yanling Yang   +12 more
doaj   +1 more source

Hematopoietic (stem) cells—The elixir of life?

FEBS Letters, EarlyView.
The aging of HSCs (hematopoietic stem cells) and the blood system leads to the decline of other organs. Rejuvenating aged HSCs improves the function of the blood system, slowing the aging of the heart, kidney, brain, and liver, and the occurrence of age‐related diseases.
Emilie L. Cerezo, Jonah Anderson, Emilie Dinh Vedrenne, Noël Yeh Martín, Jette Lengefeld   +4 more
wiley   +1 more source

Mitochondrial CISD1/Cisd accumulation blocks mitophagy and genetic or pharmacological inhibition rescues neurodegenerative phenotypes in Pink1/parkin models

Molecular Neurodegeneration
Background Mitochondrial dysfunction and toxic protein aggregates have been shown to be key features in the pathogenesis of neurodegenerative diseases, such as Parkinson’s disease (PD).
Aitor Martinez, Alvaro Sanchez-Martinez, Jake T. Pickering, Madeleine J. Twyning, Ana Terriente-Felix, Po-Lin Chen, Chun-Hong Chen, Alexander J. Whitworth   +7 more
doaj   +1 more source

Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation

Nature Communications, 2021
Heteroplasmic mtDNA mutations cause disease in humans. Here, Chung et al find the PI3K-Akt-mTORC1 pathway constitutively activated in cells with the heteroplasmic m.3243 A > G mutation, and inhibition of the pathway cell autonomously reduces mutant mtDNA
Chih-Yao Chung, Kritarth Singh, Vassilios N. Kotiadis, Gabriel E. Valdebenito, Jee Hwan Ahn, Emilie Topley, Joycelyn Tan, William D. Andrews, Benoit Bilanges, Robert D. S. Pitceathly, Gyorgy Szabadkai, Mariia Yuneva, Michael R. Duchen   +12 more
doaj   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +1 more source

The essential role of fructose-1,6-bisphosphatase 2 enzyme in thermal homeostasis upon cold stress

Experimental and Molecular Medicine, 2020
Body temperature: Enzyme critical to heat production in muscle When simple sugars in the diet are scarce, skeletal muscle can still generate heat under cold conditions thanks to an enzyme that converts a metabolic byproduct into complex carbohydrates.
Hyun-Jun Park, Hye Rim Jang, Shi-Young Park, Young-Bum Kim, Hui-Young Lee, Cheol Soo Choi   +5 more
doaj   +1 more source

Targeted up-regulation of Drp1 in dorsal horn attenuates neuropathic pain hypersensitivity by increasing mitochondrial fission

Redox Biology, 2022
Mitochondria play an essential role in pathophysiology of both inflammatory and neuropathic pain (NP), but the mechanisms are not yet clear. Dynamin-related protein 1 (Drp1) is broadly expressed in the central nervous system and plays a role in the ...
Kun-Long Zhang, Shu-Jiao Li, Xue-Yin Pu, Fei-Fei Wu, Hui Liu, Rui-Qing Wang, Bo-Zhi Liu, Ze Li, Kai-Feng Li, Nian-Song Qian, Yan-Ling Yang, Hua Yuan, Ya-Yun Wang   +12 more
doaj   +1 more source

Mitochondrial diseases

Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2004
By convention, the term "mitochondrial diseases" refers to disorders of the mitochondrial respiratory chain, which is the only metabolic pathway in the cell that is under the dual control of the mitochondrial genome (mtDNA) and the nuclear genome (nDNA).
openaire   +2 more sources

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source