Browsing by Subject "Mitochondrial dysfunction"
Now showing items 1-8 of 8
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A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress
(Elsevier, 2016)Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive inherited metabolic disease of leucine catabolism with a highly variable phenotype. Apart from extensive mutation analyses of the MCCC1 ... -
Curcumin rescues a PINK1 knock down SH-SY5Y cellular model of Parkinson’s disease from mitochondrial dysfunction and cell death
(Springer, 2017)Parkinson’s disease (PD) is a neurodegenerative disorder characterised by the loss of dopaminergic neurons in the substantia nigra. Mutations in the PINK1 gene result in an autosomal recessive form of early-onset PD. ... -
DNA methylation associated with mitochondrial dysfunction in a south african autism spectrum disorder cohort
(Wiley, 2020)Autism spectrum disorder (ASD) is characterized by phenotypic heterogeneity and a complex genetic architecture which includes distinctive epigenetic patterns. We report differential DNA methylation patterns associated with ... -
Evaluation of ROS production in OXPHOS knockout strains of C. elegans
(North-West University (South Africa), 2024)The oxidative phosphorylation (OXPHOS) system, comprising five complexes, regulates electron transport and adenosine triphosphate (ATP) synthesis in mitochondria. Dysfunctions in these complexes lead to diverse diseases. ... -
Evaluation of ROS production in OXPHOS knockout strains of C. elegans
(North-West University (South Africa), 2024-06)The oxidative phosphorylation (OXPHOS) system, comprising five complexes, regulates electron transport and adenosine triphosphate (ATP) synthesis in mitochondria. Dysfunctions in these complexes lead to diverse diseases. ... -
Neuroprogression in schizophrenia: pathways underpinning clinical staging and therapeutic corollaries
(Sage, 2014)Objective: Whilst dopaminergic dysfunction remains a necessary component involved in the pathogenesis of schizophrenia, our current pharmacological armoury of dopamine antagonists does little to control the negative ... -
Social isolation rearing induces mitochondrial, immunological, neurochemical and behavioural deficits in rats, and is reversed by clozapine or N-acetyl cysteine
(Elsevier, 2013)Apart from altered dopamine (DA) function, schizophrenia displays mitochondrial and immune-inflammatory abnormalities, evidenced by oxidative stress, altered kynure nine metaboli sm and cytokine release . N-acetyl cysteine ... -
Transcriptomic and functional characterisation of marginal and clinically severe 3-methylcrotonyl-CoA carboxylase deficiency
(North-West University (South Africa), 2015)Urinary 3-hydroxyisovaleric acid and 3-methylcrotonylglycine are usually indicative of the possibility of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency. In this study a South African family which presented with these ...
