ATP Synthase c-Subunit Leak Causes Aberrant Cellular Metabolism in Fragile X Syndrome
Licznerski P, Park HA, Rolyan H, Chen R, Mnatsakanyan N, Miranda P, Graham M, Wu J, Cruz-Reyes N, Mehta N, Sohail S, Salcedo J, Song E, Effman C, Effman S, Brandao L, Xu GN, Braker A, Gribkoff VK, Levy RJ, Jonas EA. ATP Synthase c-Subunit Leak Causes Aberrant Cellular Metabolism in Fragile X Syndrome. Cell 2020, 182: 1170-1185.e9. PMID: 32795412, PMCID: PMC7484101, DOI: 10.1016/j.cell.2020.07.008.Peer-Reviewed Original ResearchConceptsFragile X syndromeC subunitAberrant synaptic developmentHuman fragile X syndromeATP synthase enzymeMental retardation proteinX syndromeATP production efficiencyMRNA translation rateAberrant cellular metabolismATP synthaseMRNA translationTranslation rateCellular metabolismSynaptic growthSynthase enzymeMouse neuronsSynapse maturationSynaptic developmentPharmacological inhibitionLeak channelsSynaptic maturationMembrane leakMaturationMetabolismDecreased expression of synapse-related genes and loss of synapses in major depressive disorder
Kang HJ, Voleti B, Hajszan T, Rajkowska G, Stockmeier CA, Licznerski P, Lepack A, Majik MS, Jeong LS, Banasr M, Son H, Duman RS. Decreased expression of synapse-related genes and loss of synapses in major depressive disorder. Nature Medicine 2012, 18: 1413-1417. PMID: 22885997, PMCID: PMC3491115, DOI: 10.1038/nm.2886.Peer-Reviewed Original ResearchMeSH KeywordsAnalysis of VarianceAnimalsCalmodulinCell LineDepressive Disorder, MajorGATA1 Transcription FactorGene Expression ProfilingGene Expression RegulationHumansMicroarray AnalysisMicroscopy, ElectronPrefrontal CortexRab3A GTP-Binding ProteinRab4 GTP-Binding ProteinsRatsReverse Transcriptase Polymerase Chain ReactionSynapsesSynapsinsTubulin