Journal article

Gene induction for the treatment of methylmalonic aciduria

Ruimei Hu, Nicole E Buck, Mahmoud S Khaniani, Leonie Wood, Hady Wardan, Jean-Francois Benoist, Lingli Li, Jim Vadolas, Joseph P Sarsero, Panos A Ioannou, Heidi L Peters

JOURNAL OF GENE MEDICINE | WILEY | Published : 2009

Abstract

BACKGROUND: Methylmalonic aciduria is an autosomal recessive inborn error of the propionate metabolic pathway. One form of this disorder is caused by mutations in methylmalonyl-coenzyme A mutase (MCM), resulting in reduced levels of enzyme activity. The pharmacological up-regulation of residual mutase activity is one approach to advance treatment strategies for individuals affected by this disorder. We describe the construction, characterization and use of a cellular genomic reporter assay for MCM expression that will potentially identify therapeutic pharmacological agents for methylmalonic aciduria treatment. METHODS: Homologous recombination was used to insert an enhanced green fluorescent..

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