Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Francois H. Van Der Westhuizen"'
Autor:
Surita Meldau, Sally Ackermann, Gillian Riordan, George F. van der Watt, Careni Spencer, Sharika Raga, Kashief Khan, Dee M. Blackhurst, Francois H. van der Westhuizen
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101078- (2024)
Leigh syndrome is a severe progressive mitochondrial disorder mainly affecting children under the age of 5 years. It is caused by pathogenic variants in any one of more than 75 known genes in the nuclear or mitochondrial genomes.A 19-week-old male in
Externí odkaz:
https://doaj.org/article/9892e44912304e90a1a247108609ce21
Autor:
Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the variants occurring in the electron transfer flavoprotein-ubiquinone
Externí odkaz:
https://doaj.org/article/4f97c609fc144737ad690173a33bc63e
Autor:
Amica C. Müller-Nedebock, Abigail L. Pfaff, Ilse S. Pienaar, Sulev Kõks, Francois H. van der Westhuizen, Joanna L. Elson, Soraya Bardien
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Mitochondrial DNA (mtDNA), a potential source of mitochondrial dysfunction, has been implicated in Parkinson’s disease (PD). However, many previous studies investigating associations between mtDNA population variation and PD reported inconsistent o
Externí odkaz:
https://doaj.org/article/f877b442e8d1404ab7be17ae21b008da
Autor:
Shameemah Abrahams, Hayley C. Miller, Carl Lombard, Francois H. van der Westhuizen, Soraya Bardien
Publikováno v:
Biochemistry and Biophysics Reports, Vol 27, Iss , Pp 101035- (2021)
Mitochondrial dysfunction has been proposed as one of the pathobiological underpinnings in Parkinson's disease. Environmental stressors, such as paraquat, induce mitochondrial dysfunction and promote reactive oxygen species production. Targeting oxid
Externí odkaz:
https://doaj.org/article/b9b32a8d1ab243acae2e45398cea6c86
Autor:
Carla S. D'Angelo, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Gong Mengchun, Helen Malherbe, Juergen K. V. Reichardt, Laura Arbour, Maui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Yarlalu Thomas, Gareth Baynam
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequ
Externí odkaz:
https://doaj.org/article/fd0e65b495e942c6b66615fabcd72740
Publikováno v:
Data in Brief, Vol 29, Iss , Pp - (2020)
Certain estrogen metabolites have been implicated in the pathophysiology of breast cancer. Moreover, the estrogen metabolite profiles of healthy women and those with (a high risk of) breast cancer differ significantly. The development of an analytica
Externí odkaz:
https://doaj.org/article/f90e6d3eb26d42eba7e9584c42d2614b
Publikováno v:
South African Journal of Science, Vol 115, Iss 3/4 (2019)
The research fields of bioinformatics and computational biology are growing rapidly in South Africa. Bioinformatics pipelines play an integral part in handling sequencing data, which are used to investigate the aetiology of common and rare diseases.
Externí odkaz:
https://doaj.org/article/6851da80528343c48288165a10fe8dde
Publikováno v:
Molecules, Vol 13, Iss 9, Pp 2169-2180 (2008)
Aloe greatheadii var. davyana (Asphodelaceae) is used among rural South African communities to treat arthritis, skin cancer, burns, eczema, psoriasis, digestive problems, high blood pressure and diabetes, despite very little supporting scientific evi
Externí odkaz:
https://doaj.org/article/4a52d818f74b4031b950f99387e069cd
Autor:
Afreen Rehman, Roshani Kumari, Arunika Kamthan, Rajnarayan Tiwari, Rupesh Kumar Srivastava, Francois H. van der Westhuizen, Pradyumna Kumar Mishra
Publikováno v:
Free Radical Biology and Medicine. 195:103-120
The association of airborne particulate matter exposure with the deteriorating function of the cardiovascular system is fundamentally driven by the impairment of mitochondrial-nuclear crosstalk orchestrated by aberrant redox signaling. The loss of de
Autor:
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
Publikováno v:
Molecular Neurobiology. 60:749-767
Coumarins are plant-derived polyphenolic compounds belonging to the benzopyrones family, possessing wide-ranging pharmaceutical applications including cytoprotection, which may translate into therapeutic potential for multiple diseases, including Par