Results 51 to 60 of about 735,599 (336)

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

Mitochondrial disease and epilepsy [PDF]

Developmental Medicine & Child Neurology, 2012
Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures.
openaire   +3 more sources

The role of fibroblast growth factors in cell and cancer metabolism

FEBS Letters, EarlyView.
Fibroblast growth factor (FGF) signaling regulates crucial signaling cascades that promote cell proliferation, survival, and metabolism. Therefore, FGFs and their receptors are often dysregulated in human diseases, including cancer, to sustain proliferation and rewire metabolism.
Jessica Price, Chiara Francavilla
wiley   +1 more source

Queuine ameliorates impaired mitochondrial function caused by mt-tRNAAsn variants

Journal of Translational Medicine
Background Mitochondrial tRNA (mt-tRNA) variants have been found to cause disease. Post-transcriptional queuosine (Q) modifications of mt-tRNA can promote efficient mitochondrial mRNA translation.
Yan Lin, Jiayin Wang, Xingyu Zhuang, Ying Zhao, Wei Wang, Dongdong Wang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji   +8 more
doaj   +1 more source

A protective mechanism of probiotic Lactobacillus against hepatic steatosis via reducing host intestinal fatty acid absorption

Experimental and Molecular Medicine, 2019
Liver disease: Beneficial bacteria divert dietary fats Intestinal bacteria that consume common fatty acids could help protect their hosts against non-alcoholic fatty liver disease (NAFLD).
Hye Rim Jang, Hyun-Jun Park, Dongwon Kang, Hayung Chung, Myung Hee Nam, Yeonhee Lee, Jae-Hak Park, Hui-Young Lee   +7 more
doaj   +1 more source

Meshed neuronal mitochondrial networks empowered by AI-powered classifiers and immersive VR reconstruction

Frontiers in Neuroscience, 2023
Mitochondrial networks are defined as a continuous matrix lumen, but the morphological feature of neuronal mitochondrial networks is not clear due to the lack of suitable analysis techniques.
Shu-Jiao Li, Hui Liu, Hui Liu, Fei-Fei Wu, Da-Yun Feng, Shuai Zhang, Jie Zheng, Jie Zheng, Lu Wang, Fei Tian, Yan-Ling Yang, Ya-Yun Wang, Ya-Yun Wang   +12 more
doaj   +1 more source

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

The IQ‐compete assay for measuring mitochondrial protein import efficiencies in living yeast cells

FEBS Letters, EarlyView.
The efficiency of mitochondrial protein import depends on the properties of the newly synthesized precursor proteins. The Import and de‐Quenching Competition (IQ‐compete) assay is a novel method to monitor the import efficiency of different proteins by fluorescence in living yeast cells.
Yasmin Hoffman, Annika Egeler, Saskia Rödl, Johannes M. Herrmann   +3 more
wiley   +1 more source

Mitochondrial disease and endocrine dysfunction [PDF]

, 2017
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking.
Achermann, JC, Chow, J, Dattani, MT, Rahman, J, Rahman, S   +4 more
core  

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines [PDF]

, 2022
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L. Alston, Cathy E. Woodward, Conrad Smith, Charlotte V. Y. Knowles, Yogen Patel, Philip Hodsdon, Jack P. Baines, Emma L. Blakely, James M. Polke, Robert W. Taylor, Carl Fratter   +13 more
openalex   +1 more source