Results 91 to 100 of about 3,514 (179)

Therapies for Mitochondrial Disease: Past, Present, and Future

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Megan Ball, Nicole J. van Bergen, Alison G. Compton, David R. Thorburn, Shamima Rahman, John Christodoulou   +5 more
wiley   +1 more source

A biophysical approach to large-scale protein-DNA binding data [PDF]

, 2008
About this book * Cutting-edge genome analysis methods from leading bioinformaticians An accurate description of current scientific developments in the field of bioinformatics and computational implementation is presented by research of the BioSapiens ...
Manke, T., Roider, H., Vingron, M.
core   +1 more source

A genetic variant in large tumor suppressor kinase 2 of Hippo signaling pathway contributes to prognosis of hepatocellular carcinoma [PDF]

, 2016
published_or_final_versio
Chen, J, Gu, D, He, M, Hu, Z, Lee, NPY, Shen, L, Song, C, Wen, J, Xu, Z, Zhao, T   +9 more
core   +1 more source

Loss of tafazzin in yeast leads to increased oxidative stress during respiratory growth [PDF]

Molecular Microbiology, 2008
SummaryThe tafazzin (TAZ) gene is highly conserved from yeast to humans, and the yeast taz1 null mutant shows alterations in cardiolipin (CL) metabolism, mitochondrial dysfunction and stabilization of supercomplexes similar to those found in Barth syndrome, a human disorder resulting from loss of tafazzin.
Shuliang, Chen, Quan, He, Miriam L, Greenberg   +2 more
openaire   +2 more sources

A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing.

PLoS ONE, 2023
Barth Syndrome is a rare, X-linked disorder caused by mutation of the gene TAFAZZIN (TAZ). The corresponding Tafazzin protein is involved in the remodeling of cardiolipin, a phospholipid with critical roles in mitochondrial function.
Kristin Richardson, Robert Wessells
doaj   +1 more source

Outlook Magazine, Autumn 2011 [PDF]

, 2011
https://digitalcommons.wustl.edu/outlook/1184/thumbnail ...

core   +1 more source

Rapeseed oil-rich diet alters in vitro menadione and nimesulide hepatic mitochondrial toxicity [PDF]

, 2013
Diet-induced changes in the lipid composition of mitochondrial membranes have been shown to influence physiological processes. However, the modulation effect of diet on mitochondrially-active drugs has not yet received the deserved attention.
Jurado, A. S., Monteiro, João P., Oliveira, Paulo J., Silva, Ana M.   +3 more
core   +1 more source

Mitochondria‐Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human‐Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model

The FASEB Journal, Volume 39, Issue 12, 30 June 2025.
Barth syndrome (BTHS) is a rare disease caused by mutations in the tafazzin gene that affects the heart and muscles, but till date, no clinically effective drugs. Using Barth syndrome myopathy in human‐ iPS‐derived disease cells and Drosophila melanogaster model, a new mitochondria‐homing drug MA‐5, improves BTHS dysfunction and may serve as a new ...
Yoshiyasu Tongu, Tomoko Kasahara, Tetsuro Matsuhashi, Yoshitsugu Oikawa, Ryota Akimoto, Yuhan Luo, Sayaka Sekine, Momoka Suzuki, Hitomi Kashiwagi, Shinichiro Kanno, Yoshikazu Tanaka, Kyohei Sato, Yusuke Okubo, Akihiko Muto, Hidetaka Tokuno, Chitose Suzuki, Chiharu Kawabe, Takamasa Ishikawa, Shun Watanabe, Koichi Kikuchi, Shun Itai, Takeya Sato, Takehiro Suzuki, Kazuhiro Igarashi, Shinji Fukuda, Tomoyoshi Soga, Kei Murayama, Erina Kuranaga, Takafumi Toyohara, Takaaki Abe   +29 more
wiley   +1 more source

SS-31 treatment ameliorates cardiac mitochondrial morphology and defective mitophagy in a murine model of Barth syndrome

Scientific Reports
Barth syndrome (BTHS) is a lethal rare genetic disorder, which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and growth delay.
Silvia Russo, Domenico De Rasmo, Roberta Rossi, Anna Signorile, Simona Lobasso   +4 more
doaj   +1 more source

Mitochondria‐Nuclear Crosstalk: Orchestrating mtDNA Maintenance

Environmental and Molecular Mutagenesis, Volume 66, Issue 5, Page 222-242, June 2025.
ABSTRACT The mitochondria (mt) and nucleus engage in a dynamic bidirectional communication to maintain cellular homeostasis, regulating energy production, stress response, and cell fate. Anterograde signaling directs mt function, while retrograde signaling conveys metabolic and stress‐related changes from mt to the nucleus. Central to this crosstalk is
Ghazal Darfarin, Janice Pluth
wiley   +1 more source