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• W2141019919 endingPage "176" @default.
• W2141019919 startingPage "166" @default.
• W2141019919 abstract "Respiratory disturbances are a primary phenotype of the neurological disorder, Rett syndrome (RTT), caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). Mouse models generated with null mutations in Mecp2 mimic respiratory abnormalities in RTT girls. Large deletions, however, are seen in only ∼10% of affected human individuals. Here we characterized respiration in heterozygous females from two mouse models that genetically mimic common RTT point mutations, a missense mutation T158A (Mecp2T158A/+) or a nonsense mutation R168X (Mecp2R168X/+). MeCP2 T158A shows decreased binding to methylated DNA, while MeCP2 R168X retains the capacity to bind methylated DNA but lacks the ability to recruit complexes required for transcriptional repression. We found that both Mecp2T158A/+ and Mecp2R168X/+ heterozygotes display augmented hypoxic ventilatory responses and depressed hypercapnic responses, compared to wild-type controls. Interestingly, the incidence of apnea was much greater in Mecp2R168X/+ heterozygotes, 189 per hour, than Mecp2T158A/+ heterozygotes, 41 per hour. These results demonstrate that different RTT mutations lead to distinct respiratory phenotypes, suggesting that characterization of the respiratory phenotype may reveal functional differences between MeCP2 mutations and provide insights into the pathophysiology of RTT." @default.
• W2141019919 created "2016-06-24" @default.
• W2141019919 creator A5001342533 @default.
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• W2141019919 date "2014-05-01" @default.
• W2141019919 modified "2023-10-03" @default.
• W2141019919 title "Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X" @default.
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• W2141019919 doi "https://doi.org/10.1016/j.neuroscience.2014.02.043" @default.
• W2141019919 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4097951" @default.
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• W2141019919 hasPublicationYear "2014" @default.
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