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Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Genet. Med.. 2018-03; 
BoczonadiVeronika,KingMartin S,SmithAnthony C,OlahovaMonika,BansagiBoglarka,RoosAndreas,EyassuFilmon,BorchersChristoph,RameshVenkateswaran,LochmüllerHanns,PolvikoskiTuomo,WhittakerRoger G,PyleAngela,GriffinHelen,TaylorRobert W,ChinneryPatrick F,RobinsonAlan J,KunjiEdmund R S,Horvath
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Gene Synthesis … Transport studies of SLC25A21 expressed in Lactococcus lactis. A codon-optimized SLC25A21 gene was synthesized by GenScript (Piscataway, NJ), and cloned into the expression vector pNZ8048 under the control of a nisin A-inducible promoter … Get A Quote
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摘要

PurposeTo understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease.MethodsWe 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 neurons.ResultsThe patient carries a homozygous pathogenic variant c.695A>G; p.(Lys232Arg) in the SLC25A21 gene, encoding the mitochondrial oxodicarboxylate carrier, and developed spinal muscular atrophy and mitochondrial myopathy. Transport assays show that the mutation renders SLC25A21 dysfunctional and ... More

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