Publications

Our publications are listed in order of the most relevant over the last five years:

 

  • Reinecke CJ, Koekemoer G, van der Westhuizen FH, Louw R, Lindeque JZ, Mienie LJ, Smuts I. 2012. Metabolomics of urinary organic acids in respiratory chain deficiencies. Metabolomics 8, 264-283 (IF 4.505).

  • van der Walt EM, Smuts I, Taylor RW, Elson JL, Turnbull DM, Louw R, van der Westhuizen FH. 2012. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. European Journal of Human Genetics 20, 650-656 (IF 4.38).

  • Elson JL, Sweeney MG, Procaccio V, Yarham JW, Salas A, Kong Q-P, van der Westhuizen FH, Pitceathly RDS, Taylor RW, McFarland R. 2012. Towards a mtDNA locus-specific mutation database using the LOVD platform. Human Mutation 33, 1352-1358 (IF 6.212).

  • Alston CL, Davison JE, Goffrini P, van der Westhuizen FH, He L, Peet AC, Gissen P, Meloni F, Ferrero I, Wassmer E, McFarland R, Taylor RW. 2012. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of Medical Genetics 49, 569-577 (IF 6.365).

  • Smuts I, van der Westhuizen FH, Louw R, Mienie, LJ, Mason S, Engelke U, Koekemoer G, Reinecke CR. 2013. Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach. Metabolomics 9, 379 – 391 (IF 4.505).

  • Lindeque JZ, Hidalgo J, Louw R, van der Westhuizen FH. 2013. Systemic and organ-specific metabolic variation in metallothionein knockout mice challenged with swimming exercise. Metabolomics 9: 418-432 (IF 4.505).

  • Wortmann SB, Kluijtmans LAJ, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JAM, Morava E, Wevers RA. 2013. 3-Methylglutaconic aciduria - lessons from 50 genes and 970 patients. Journal of Inherited Metabolic Disease 36, 913-921 (IF 3.577).

  • van Deventer CA, Louw R, van der Westhuizen FH, Vorster CB, Malan L. 2013. The Contribution of the C-824T Tyrosine Hydroxylase Polymorphism to the Prevalence of Hypertension in a South African Cohort: The SABPA Study. Clinical and Experimental Hypertension 35, 614-619 (IF1.142).

  • Dercksen M, Ijlst L, Duran M, Mienie LJ, van Cruchten A, van der Westhuizen FH, Wanders RJA. 2014. Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters. BBA Molecular Basis of Disease 1842, 2510-2516 (IF 5.387).

  • Venter L, Lindeque JZ, Jansen van Rensburg P, van der Westhuizen FH, Smuts I, Louw R. 2015. Untargeted urine metabolomics reveals a biosignature for muscle respiratory chain deficiencies. Metabolomics 11, 111-121 (IF 4.505).

  • Lindeque JZ, Jansen van Rensburg PJ, Louw R, van der Westhuizen FH, Florit S, Ramírez L, Giralt M, Hidalgo J. 2015. Obesity and Metabolomics: Metallothioneins protect against high-fat diet-induced consequences in metallothionein knockout mice. Omics 19, 92-103. (IF 2.73).

  • van Deventer CA, Lindeque JZ, Jansen van Rensburg PA, Malan L, van der Westhuizen FH, Louw R. 2015. Use of metabolomics to elucidate the metabolic perturbation associated with hypertension in a black South African male cohort: The SABPA Study. Journal of the American Society of Hypertension 9, 104-114 (IF 2.84).

  • van der Westhuizen FH, Sinxadi P, Dandara C, Smuts I, Riordan G, Meldau S, Malik A, Sweeney M, Tsai Y, Towers W, Louw R, Gorman G, Payne B, Soodyall H, Pepper MS, Elson JL. 2015. Understanding the implications of mitochondrial DNA variation in the health of Black South African populations. Human Mutation 36, 569-571 (IF 5.12).

  • Meldau S, Riordan G, van der Westhuizen FH, Elson JM, Smuts I, Pepper MS, Soodyall H. 2016. Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease? South African Medical Journal 106, 234-236 (IF 1.325).

  • Haylett W, Swart C, van der Westhuizen FH, van Dyk HC, van der Merwe L, van der Merwe C, Loos B, Carr J, Kinnear C and Bardien S. (2016). Altered mitochondrial respiration and other features of mitochondrial function in parkin-mutant fibroblasts from Parkinson’s disease patients. Parkinson's Disease, Vol 2016 Article ID 1819209, 11 pages (IF 2.01).

  • van der Merwe C, van Dyk HC, Engelbrecht L, van der Westhuizen FH, Kinnear C, Loos B, Bardien S. 2016. Curcumin rescues a PINK1 knock down SH-SY5Y cellular model of Parkinson’s disease from mitochondrial dysfunction and cell death. Molecular Neurobiology, Vol 53:9 (Nov), pp. tbd (IF 5.47). 

  • Venter M, Malan L, van Dyk E, Elson JL, van der Westhuizen FH. 2017. Using MutPred derived mtDNA load scores to evaluate mtDNA variation in hypertension and diabetes in a two-population cohort: The SABPA study. Journal of Genetics and Genomics, In print (IF 3.98).

  • Schoeman E, van der Westhuizen FH, Erasmus E, van Dyk E, Knowles, CVY; Al-Ali S, Wan-Fai N, Taylor RW, Newton JL, Elson JL. 2017. Clinically proven mtDNA mutations are not common in those with Chronic Fatigue Syndrome. In print BMC Medical Genetics (IF 2.09).