2024
Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice
Kang R, Kim K, Jung Y, Choi S, Lee C, Im G, Shin M, Ryu K, Choi S, Yang E, Shin W, Lee S, Lee S, Papadopoulos Z, Ahn J, Koh G, Kipnis J, Kang H, Kim H, Cho W, Park S, Kim S, Kim E. Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice. PLOS Biology 2024, 22: e3002596. PMID: 38718086, PMCID: PMC11104772, DOI: 10.1371/journal.pbio.3002596.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderBehavioral phenotypesASD-relatedSocial communication deficitsAutism-related phenotypesEnlarged lateral ventriclesProgressive ventricular enlargementCommunication deficitsSpectrum disorderSynaptic deficitsEnlargement of brain ventriclesTranscriptomic changesMicrotubule-regulatory proteinsGenes down-regulatedBrain ventriclesVentricular enlargementLateral ventricleDeficitsHippocampal neuronsMotile ciliaKATNAL2Potential treatmentDown-regulationCiliary functionEpendymal cells
2022
MFN2 Deficiency Impairs Mitochondrial Functions and PPAR Pathway During Spermatogenesis and Meiosis in Mice
Wang T, Xiao Y, Hu Z, Gu J, Hua R, Hai Z, Chen X, Zhang J, Yu Z, Wu T, Yeung W, Liu K, Guo C. MFN2 Deficiency Impairs Mitochondrial Functions and PPAR Pathway During Spermatogenesis and Meiosis in Mice. Frontiers In Cell And Developmental Biology 2022, 10: 862506. PMID: 35493072, PMCID: PMC9046932, DOI: 10.3389/fcell.2022.862506.Peer-Reviewed Original ResearchConditional knock-outMitochondrial functionPPAR pathwayMale germ cellsRNA-seq analysisGenes up-regulatedGenes down-regulatedPathway enrichment analysisImpaired mitochondrial functionDynamic organellesMitochondrial dynamicsRNA-seqMitochondrial fusionDisrupted spermatogenesisMfn2 deficiencyGerm cellsPachytene stageOxidative phosphorylationSpermatogenesisTranscriptome profilingEnrichment analysisMfn2Cellular differentiationMolecular mechanismsLipid droplets
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