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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).
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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.
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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
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Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review
Biomolecules, 2020 In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations in the nuclear genes encoding mitochondrial proteins were found. A group of these
Ferdinando Palmieri +2 more
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Frontiers in Neuroscience, 2023 The study aimed to investigate the neurovascular coupling abnormalities in Leber’s hereditary optic neuropathy (LHON) and their associations with clinical manifestations.
Yi Ji +8 more
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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 +3 more
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Energy metabolism and whole-exome sequencing-based analysis of Sasang constitution: a pilot study
Integrative Medicine Research, 2017 Background: Traditional Korean Sasang constitutional (SC) medicine categorizes individuals into four constitutional types [Tae-eum (TE), So-eum (SE), Tae-yang (TY), or So-yang (SY)] based on biological and physiological characteristics.
Hyoung Kyu Kim +7 more
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Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines [PDF]
, 2022 Eleni Mavraki +13 more
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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 +4 more
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HGG Advances, 2022 Summary: Mitochondrial disorders are clinically and genetically heterogeneous, with variants in mitochondrial or nuclear genes leading to varied clinical phenotypes. TAMM41 encodes a mitochondrial protein with cytidine diphosphate-diacylglycerol synthase
Kyle Thompson +25 more
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