基本信息
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Bio
Starting my academic career in 1993 as junior lecturer, I am currently a Professor of Biochemistry and Deputy Director of the School for Physical and Chemical Sciences at the North-West University (NWU). Overt his time, my teaching expertise has been enzymology, molecular biology and bioenergetics, whereas my research focused on mitochondrial energy metabolism deficiencies, which includes some of the most common inherited metabolic disorders in humans. This field of specialization has wide-ranging relevance to human health, also linking to the role of energy metabolism in the development of non-communicable diseases.
After receiving my PhD in 1998, I completed a postdoctoral fellowship from 2000 to 2001 at the Nijmegen Centre for Mitochondrial Disorders at Radboud University Nijmegen Medical Centre in The Netherlands, under the supervision of Prof Jan Smeitink. Returning from this, I established in 2002 - along with colleague Prof Roan Louw - the Mitochondria Research Laboratory at the NWU, which has developed into an established research group with wide national and international collaboration and recognition. I’ve spent a year (2011) on sabbatical at a leading research group in the field, the Mitochondrial Research Group at Newcastle University in the United Kingdom, primarily to gain a better understanding of the complex phenotype-genotype relation of these disorders and the involvement of mtDNA.
Focusing on mitochondrial disease research and diagnostics, we have an established research program that includes genomics, cell biology research & disease models, as well as metabolomics. As an outflow of my interest in mitochondrial energy metabolism and mitochondrial genetics, this program also includes collaborative research on the role of energy metabolism and mtDNA in the pathology of non-communicable diseases such as cardiovascular disease and cancer. Prominent outputs of the group are the publications of some of the first extensive etiological data of mitochondrial disease in African populations, specific adaptive responses (including metallothioneins), and metabolomic investigations in humans and animal models. Recent developments are my participation as lead SA primary investigator in the establishment in 2019 of the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) - a global initiative between the UK, SA, Brazil, India, Turkey and Zambia - which aims to better uncover the genetics of neuromuscular diseases in our populations over the next decade.
My scientific associations include being the vice-president of the South African Society for Biochemistry and Molecular Biology (SASBMB), member of the Diagnostics Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC), and academic editor at PeerJ. I currently have a B2 researcher rating at the National Research Foundation (NRF), with ~90 accredited journal publications [H-index 27 (Google Scholar), 23 (Scopus)] and have completed 41 (26 MSc, 15 PhD’s) postgraduate studies.
Research Interests
Papers共 116 篇Author StatisticsCo-AuthorSimilar Experts
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Molecular Genetics and Metabolism Reports (2024): 101078-101078
M B Nejthardt, P Alexandris, S Bechan, M F A Bijli,S Chetty, J M Dippenaar, M Gibbs, M Johnson,H Kluyts, R Llewellyn, M Motiang,P Mogane,
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskundeno. 2 (2024): e1306-e1306
Orphanet Journal of Rare Diseasesno. 1 (2024): 15-15
Life sciences (2023): 122125-122125
Frontiers in Pediatrics (2022)
Belinda Fouché, Stephanie Turner, Rebecca Gorham, Eloise J. Stephenson,Simon Gutbier,Joanna L. Elson,Olimpo García-Beltrán,Francois H. Van Der Westhuizen,Ilse S. Pienaar
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Author Statistics
#Papers: 117
#Citation: 2675
H-Index: 29
G-Index: 47
Sociability: 6
Diversity: 4
Activity: 49
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