Results 41 to 50 of about 507,433 (303)

Indicators of mitochondrial disease [PDF]

Sao Paulo Medical Journal, 2013
In the article, the authors hypothesize that hepatosteatosis with unknown etiology presented by group of pediat-ric patients may be mitochondrial disease. They attribute their idea to mitochondrial structural abnormalities detected through electron microscopy examination.
Kurt, Yasemin Gulcan, Cayci, Tuncer, Akgul, Emin Ozgur, Cakir, Erdinc   +3 more
openaire   +7 more sources

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +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

Experimental Relocation of the Mitochondrial ATP9 Gene to the Nucleus Reveals Forces Underlying Mitochondrial Genome Evolution [PDF]

, 2012
Only a few genes remain in the mitochondrial genome retained by every eukaryotic organism that carry out essential functions and are implicated in severe diseases.
Steinmetz⁎, L.M., Tetaud, Emmanuel, Steinmetz, Lars M, Annie Sainsard-Chanet, Giraud, Marie-France, Roza Kucharczyk (141980), Bietenhader, M., Raeka S Aiyar, Martos, Alexandre, Steinmetz, Lars M., Lars M Steinmetz, Sandra Clauder-Münster, Denmat, S. Hermann-Le, Dequard-Chablat, Michelle, Sylvie Hermann-Le Denmat (30181), Giraud, M.-F., Gagneur, Julien, Denmat, Sylvie Hermann-Le, Aiyar, Raeka, S, Maïlis Bietenhader, Emmanuel Tetaud (40495), Déquard-Chablat, M., Roza Kucharczyk, Martos, A., Annie Sainsard-Chanet (141993), Aiyar, R.S., Sainsard-Chanet, Annie, Isabelle Sagot, di Rago⁎, J.-P., Julien Gagneur (4350), Jean-Paul di Rago, Gagneur, J., Kucharczyk, R., Clauder-Münster, S., Jean-Paul di Rago (118317), Marie-France Giraud, Raeka S. Aiyar (141976), Godard, François, Bénédicte Salin (48466), di Rago, Jean-Paul, Carole H Sellem, Emmanuel Tetaud, Salin, Bénédicte, Godard, F., Steinmetz, Lars, M, Godard, Franc¸ois, Hermann-Le Denmat, Sylvie, Sylvie Hermann-Le Denmat, François Godard (14571), Sellem, Carole, H, Tetaud, E., Lars M. Steinmetz (36847), Véronique Contamine, Sagot, I., Alexandre Martos (141974), Contamine, V., Bénédicte Salin, Sainsard-Chanet, A., Marie-France Giraud (141983), Maïlis Bietenhader (141972), Clauder-Münster, Sandra, Sandra Clauder-Münster (141982), Isabelle Sagot (48468), François Godard, Sagot, Isabelle, Michelle Déquard-Chablat (141986), Michelle Déquard-Chablat, Julien Gagneur, Salin, B., Sellem, Carole H, Contamine, Veronique, Bietenhader, Mailis, Kucharczyk, Roza, Aiyar, Raeka S, Carole H. Sellem (141978), Véronique Contamine (141989), Alexandre Martos, Sellem, C.H.   +77 more
core   +1 more source

The Interplay between Mitochondrial Dysfunction and Ferroptosis during Ischemia-Associated Central Nervous System Diseases

, 2023
Cerebral ischemia, a leading cause of disability and mortality worldwide, triggers a cascade of molecular and cellular pathologies linked to several central nervous system (CNS) disorders.
Xiang-Yu Chen, Jin-Wen Ge, Yue Zhou, He-Yan Tian, Zhi-Gang Mei, Tong Yang, Shao-Wu Cheng, Bo-Yang Huang, Hui-Fang Nie   +8 more
core   +1 more source

Mitochondrial disease in children [PDF]

Journal of Internal Medicine, 2020
AbstractMitochondrial disease presenting in childhood is characterized by clinical, biochemical and genetic complexity. Some children are affected by canonical syndromes, but the majority have nonclassical multisystemic disease presentations involving virtually any organ in the body.
openaire   +2 more sources

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

Pbk positively regulates myoblast differentiation and muscle regeneration via enhancing AMPK/ULK1 mediated myogenic autophagy

Journal of Translational Medicine
Background The activity of normal myoblasts is essential for the regeneration of skeletal muscle following injury. Nevertheless, the intrinsic mechanisms governing myoblast functions and muscle regeneration remain inadequately elucidated.
Dongdong Wang, Didi Shan, Dandan Zhao, Tingjun Dai, Fuchen Liu, Chuanzhu Yan   +5 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

Mitochondrial Diseases

Journal of Epilepsy Research, 1970
Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the main part of cellular energy in the form of ATP. Although several proteins related with signalling, assembling, transporting, and enzymatic function can be impaired in mitochondrial diseases, most frequently the activity of the ...
openaire   +2 more sources