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- W2104811636 abstract "Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked MECP2 gene, which encodes a methyl-CpG binding transcriptional repressor. Using the Mecp2-null mouse (an animal model for RTT) and differential display, we found that mice with neurological symptoms overexpress the nuclear gene for ubiquinol-cytochrome c reductase core protein 1 (Uqcrc1). Chromatin immunoprecipitation demonstrated that MeCP2 interacts with the Uqcrc1 promoter. Uqcrc1 encodes a subunit of mitochondrial respiratory complex III, and isolated mitochondria from the Mecp2-null brain showed elevated respiration rates associated with respiratory complex III and an overall reduction in coupling. A causal link between Uqcrc1 gene overexpression and enhanced complex III activity was established in neuroblastoma cells. Our findings raise the possibility that mitochondrial dysfunction contributes to pathology of the Mecp2-null mouse and may contribute to the long-known resemblance between Rett syndrome and certain mitochondrial disorders." @default.
- W2104811636 created "2016-06-24" @default.
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- W2104811636 date "2006-07-01" @default.
- W2104811636 modified "2023-10-01" @default.
- W2104811636 title "Gene Expression Analysis Exposes Mitochondrial Abnormalities in a Mouse Model of Rett Syndrome" @default.
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- W2104811636 doi "https://doi.org/10.1128/mcb.01665-05" @default.
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