Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa.

Autor: Makgopa H; Department of Chemical Pathology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.; Department of Chemical Pathology, National Health Laboratory Service, Pretoria, South Africa., Kemp T; Division of Endocrinology, Department of Internal Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa., Meldau S; Division of Chemical Pathology, Department of Pathology, University of Cape Town, Cape Town, South Africa.; Department of Chemical Pathology, National Health Laboratory Service, Cape Town, South Africa., Honey EM; Division of Human Genetics, Department of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, South Africa., Chale-Matsau B; Department of Chemical Pathology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.; Department of Chemical Pathology, National Health Laboratory Service, Pretoria, South Africa.

Publikováno v: African journal of laboratory medicine [Afr J Lab Med] 2024 May 29; Vol. 13 (1), pp. 2384. Date of Electronic Publication: 2024 May 29 (Print Publication: 2024).

A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.

Autor: Meldau S; National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa.; Division of Chemical Pathology, University of Cape Town, Cape Town, South Africa., Ackermann S; Private Practice, Constantiaberg Mediclinic, Cape Town, South Africa., Riordan G; Division of Paediatric Neurology, Dept of Paediatrics and Child Health, University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa., van der Watt GF; National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa.; Division of Chemical Pathology, University of Cape Town, Cape Town, South Africa., Spencer C; Department of Medicine, Groote Schuur Hospital and Division of Human Genetics, University of Cape Town, Cape Town, South Africa., Raga S; Division of Paediatric Neurology, Dept of Paediatrics and Child Health, University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; Neuroscience Institute, University of Cape Town, South Africa.; International Centre for Genomic Medicine in Neuromuscular Diseases Study, University College London, London, United Kingdom., Khan K; National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa.; Division of Chemical Pathology, University of Cape Town, Cape Town, South Africa., Blackhurst DM; Division of Chemical Pathology, University of Cape Town, Cape Town, South Africa., van der Westhuizen FH; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Mar 29; Vol. 39, pp. 101078. Date of Electronic Publication: 2024 Mar 29 (Print Publication: 2024).

Increased blood-derived mitochondrial DNA copy number in African ancestry individuals with Parkinson's disease.

Autor: Müller-Nedebock AC; Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa; South African Medical Research Council/ Stellenbosch University Genomics of Brain Disorders Research Unit, Cape Town, South Africa., Meldau S; National Health Laboratory Service (NHLS), Groote Schuur Hospital, Cape Town, South Africa; Division of Chemical Pathology, University of Cape Town, Cape Town, South Africa., Lombard C; Division of Epidemiology and Biostatistics, Department of Global Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa; Biostatistics Unit, South African Medical Research Council, Cape Town, South Africa., Abrahams S; Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa., van der Westhuizen FH; Human Metabolomics, North-West University, Potchefstroom, South Africa., Bardien S; Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa; South African Medical Research Council/ Stellenbosch University Genomics of Brain Disorders Research Unit, Cape Town, South Africa. Electronic address: sbardien@sun.ac.za.

Publikováno v: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2022 Aug; Vol. 101, pp. 1-5. Date of Electronic Publication: 2022 Jun 15.

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Protein Dynamics in Plant Immunity: Insights into Plant–Pest Interactions.

Autor: Zhao, Yan¹ (AUTHOR) zhaoyan@hhrrc.ac.cn, Wang, Yanru² (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 23, p12951. 15p.