Targeted deletion of βIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes
Stankewich MC, Gwynn B, Ardito T, Ji L, Kim J, Robledo RF, Lux SE, Peters LL, Morrow JS. Targeted deletion of βIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 6022-6027. PMID: 20231455, PMCID: PMC2851889, DOI: 10.1073/pnas.1001522107.Peer-Reviewed Original ResearchConceptsBetaIII spectrinSpinocerebellar ataxia type 5Spectrin membrane skeletonTargeted gene disruptionAmino acid transportersExcitatory amino acid transportersImpairs synaptogenesisProtein traffickingSeizure disorderGene disruptionDark Purkinje cellsMembrane skeletonAlphaII-spectrinAcid transportersMechanistic basisPurkinje cellsMembrane channelsGlutamate receptor deltaIntracellular pathwaysSpectrin bindsSynaptic proteinsSpectrinReceptor deltaProteinGolgi profiles