Browsing Natural and Agricultural Sciences by Subject "Leigh syndrome"
Now showing items 1-5 of 5
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The effect of metallothionein overexpression on the transcription of selected genes involved in one-carbon metabolism and oxidative stress in NDUFS4-deficient mouse tissues
(North-West University (South Africa), 2020)Respiratory complex I (CI) defects are the most common mitochondrial disease, for which treatment is limited. Additionally, there is a lack of understanding of the impact of a CI defect upon the gene expression regulation ... -
Evaluating the involvement of metallothionein l in complex l deficiency : an in vitro study
(North-West University, 2018)Among the inborn errors of energy metabolism, complex I (CI) deficiency is the most frequently encountered and debilitating disorder of the oxidative phosphorylation system. Hallmarks include an early onset, progressive ... -
Investigating tissue-specificity in a mouse model of Leigh Syndrome using metabolomics
(North-West University (South Africa), 2022)Mitochondrial disease (MD) is one of the most challenging groups of inborn disorders featuring a tissue-specific vulnerability, governed by largely unknown mechanisms. The value of metabolomics in multi-systemic MD ... -
A metabolomics and biochemical investigation of selected brain regions from Ndufs4 knockout mice
(North-West University (South Africa)North-West University, 2020)Mitochondria, the organelles found throughout the cytoplasm of most eukaryotic cells, have essential functions which have been implicated in the etiology of numerous metabolic and degenerative diseases. The mitochondrial ... -
Urinary metabolomics investigation of Ndufs4 knockout mice
(North-West University (South Africa), 2020)Mitochondrial diseases (MDs) are the most common inborn errors of metabolism, with an estimated prevalence of approximately 1 in 5 000 live births, and are mainly caused by deficiencies of complex I (CI) of the oxidative ...