Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly
Yang R, Walder-Christensen KK, Lalani S, Yan H, García-Prieto ID, Álvarez S, Fernández-Jaén A, Speltz L, Jiang YH, Bennett V. Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 19717-19726. PMID: 31451636, PMCID: PMC6765234, DOI: 10.1073/pnas.1909989116.Peer-Reviewed Original ResearchMeSH KeywordsActin CytoskeletonAction PotentialsAnimalsAnkyrinsAxon Initial SegmentAxonsCells, CulturedHEK293 CellsHumansMice, KnockoutMutationNeuronsVertebratesConceptsΒ4-spectrinAxon initial segmentC-terminal domainNormal neural developmentPrevents recruitmentGiant ankyrinNeural developmentConformational changesMissense mutationsMutationsPhosphorylationSegment assemblyRecruitmentMouse brainClose appositionCore mechanismDomainAssemblyAnkyrinClosed configurationIntermediate stageInitial segmentSitesProximal axons