Article
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2018
Boczonadi Veronika, King Martin S, Smith Anthony C, Olahova Monika, Bansagi Boglarka, Roos Andreas, Eyassu Filmon, Borchers Christoph, Ramesh Venkateswaran, Lochmüller Hanns, Polvikoski Tuomo, Whittaker Roger G, Pyle Angela, Griffin Helen, Taylor Robert W, Chinnery Patrick F, Robinson Alan J, Kunji Edmund R S, Horvath Rita
Abstract excerpt
PURPOSE: To understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease. METHODS: We identified a novel pathogenic variant in a patient by whole-exome sequencing. The pathogenicity of the mutation was studied by transport assays, computer modeling, followed by targeted metabolic testing and in vitro studies in human fibroblasts and...
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