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| 36357615 | A Novel Mitochondria-Targeting Iron Chelator Neuroprotects Multimodally via HIF-1 Modulation Against a Mitochondrial Toxin in a Dopaminergic Cell Model of Parkinson's Disease. | Mol Neurobiol | 2023 |
| 37516995 | Neuromuscular disease genetics in under-represented populations: increasing data diversity. | Brain | 2023 |
| 36584454 | Cell-free circulating mitochondrial DNA: An emerging biomarker for airborne particulate matter associated with cardiovascular diseases. | Free Radic Biol Med | 2023 |
| 35912088 | Mitochondrial DNA variation in Parkinson's disease: Analysis of "out-of-place" population variants as a risk factor. | Front Aging Neurosci | 2022 |
| 35728366 | Increased blood-derived mitochondrial DNA copy number in African ancestry individuals with Parkinson's disease. | Parkinsonism Relat Disord | 2022 |
| 36467485 | A case for genomic medicine in South African paediatric patients with neuromuscular disease. | Front Pediatr | 2022 |
| 32918239 | Metallothionein 1 Overexpression Does Not Protect Against Mitochondrial Disease Pathology in Ndufs4 Knockout Mice. | Mol Neurobiol | 2021 |
| 33513296 | Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk. | Mov Disord | 2021 |
| 33486097 | Aberrant BCAA and glutamate metabolism linked to regional neurodegeneration in a mouse model of Leigh syndrome. | Biochim Biophys Acta Mol Basis Dis | 2021 |
| 34792662 | Cross-comparison of systemic and tissue-specific metabolomes in a mouse model of Leigh syndrome. | Metabolomics | 2021 |
| 34682353 | Health Status Is Affected, and Phase I/II Biotransformation Activity Altered in Young Women Using Oral Contraceptives Containing Drospirenone/Ethinyl Estradiol. | Int J Environ Res Public Health | 2021 |
| 34189277 | Curcumin pre-treatment may protect against mitochondrial damage in <i>LRRK2</i>-mutant Parkinson's disease and healthy control fibroblasts. | Biochem Biophys Rep | 2021 |
| 34228376 | Copy Number Variation in Parkinson's Disease: An Update from Sub-Saharan Africa. | Mov Disord | 2021 |
| 33279678 | Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies. | Int J Biochem Cell Biol | 2021 |
| 33421125 | Proteomics and metabolomics of HIV-associated neurocognitive disorders: A systematic review. | J Neurochem | 2021 |
| 33438095 | One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243Aâ¿¿>â¿¿G mutation. | Metabolomics | 2021 |
| 32490597 | DNA Methylation Associated with Mitochondrial Dysfunction in a South African Autism Spectrum Disorder Cohort. | Autism Res | 2020 |
| 31873296 | A call for global action for rare diseases in Africa. | Nat Genet | 2020 |
| 31805274 | Development and validation of LC-ESI-MS/MS methods for quantification of 27 free and conjugated estrogen-related metabolites. | Anal Biochem | 2020 |
| 32071992 | Data on the optimisation of a solid phase extraction method for fractionating estrogen metabolites from small urine volumes. | Data Brief | 2020 |
| 33381478 | Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations. | Front Pediatr | 2020 |
| 29471047 | A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS). | Mitochondrion | 2019 |
| 31233840 | The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects. | Neurochem Int | 2019 |
| 30814539 | MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants. | Sci Rep | 2019 |
| 31055769 | Attenuation of Endoplasmic Reticulum Stress, Impaired Calcium Homeostasis, and Altered Bioenergetic Functions in MPP<sup>+</sup>-Exposed SH-SY5Y Cells Pretreated with Rutin. | Neurotox Res | 2019 |
| 30872186 | Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease. | J Mol Diagn | 2019 |
| 30657012 | Implementing a new variant load model to investigate the role of mtDNA in oxidative stress and inflammation in a bi-ethnic cohort: the SABPA study. | Mitochondrial DNA A DNA Mapp Seq Anal | 2019 |
| 30391276 | Metabolomics of Ndufs4<sup>-/-</sup> skeletal muscle: Adaptive mechanisms converge at the ubiquinone-cycle. | Biochim Biophys Acta Mol Basis Dis | 2019 |
| 28906532 | The aetiology of cardiovascular disease: a role for mitochondrial DNA? | Cardiovasc J Afr | 2018 |
| 29961494 | The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa. | Semin Pediatr Neurol | 2018 |
| 29530532 | The dilemma of diagnosing coenzyme Q<sub>10</sub> deficiency in muscle. | Mol Genet Metab | 2018 |
| 29035135 | Draft De Novo Genome Sequence of Agapornis roseicollis for Application in Avian Breeding. | Anim Biotechnol | 2018 |
| 29249369 | A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency. | J Neurol Sci | 2018 |
| 27003823 | Curcumin Rescues a PINK1 Knock Down SH-SY5Y Cellular Model of Parkinson's Disease from Mitochondrial Dysfunction and Cell Death. | Mol Neurobiol | 2017 |
| 28315952 | Kinetic analysis, size profiling, and bioenergetic association of DNA released by selected cell lines in vitro. | Cell Mol Life Sci | 2017 |
| 28361101 | A molecular analysis of the <i>GBA</i> gene in Caucasian South Africans with Parkinson's disease. | Mol Genet Genomic Med | 2017 |
| 28302057 | Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome. | BMC Med Genet | 2017 |
| 28298255 | Using MutPred derived mtDNA load scores to evaluate mtDNA variation in hypertension and diabetes in a two-population cohort: The SABPA study. | J Genet Genomics | 2017 |
| 28576558 | Metabolomics of mitochondrial disease. | Mitochondrion | 2017 |
| 27034887 | Altered Mitochondrial Respiration and Other Features of Mitochondrial Function in Parkin-Mutant Fibroblasts from Parkinson's Disease Patients. | Parkinsons Dis | 2016 |
| 27417235 | A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress. | Int J Biochem Cell Biol | 2016 |
| 26915934 | Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease? | S Afr Med J | 2016 |
| 25577962 | Use of metabolomics to elucidate the metabolic perturbation associated with hypertension in a black South African male cohort: the SABPA study. | J Am Soc Hypertens | 2015 |
| 26149650 | Conservation of the coding regions of the glycine N-acyltransferase gene further suggests that glycine conjugation is an essential detoxification pathway. | Gene | 2015 |
| 25683887 | Obesity and metabolomics: metallothioneins protect against high-fat diet-induced consequences in metallothionein knockout mice. | OMICS | 2015 |
| 25764011 | Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop. | Hum Mutat | 2015 |
| 23643712 | Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters. | Biochim Biophys Acta | 2014 |
| 25244563 | Leukocyte telomere length and hemostatic factors in a South African cohort: the SABPA Study. | J Thromb Haemost | 2014 |
| 25096646 | 8-Oxo-7,8-dihydro-2'-deoxyguanosine, reactive oxygen species and ambulatory blood pressure in African and Caucasian men: the SABPA study. | Free Radic Res | 2014 |
| 23063738 | Investigating the effects of the presence of foreign DNA on DNA methylation and DNA repair events in cultured eukaryotic cells. | Gene | 2013 |