2021
Structural insights into the cause of human RSPH4A primary ciliary dyskinesia
Zhao Y, Pinskey J, Lin J, Yin W, Sears P, Daniels L, Zariwala M, Knowles M, Ostrowski L, Nicastro D. Structural insights into the cause of human RSPH4A primary ciliary dyskinesia. Molecular Biology Of The Cell 2021, 32: 1202-1209. PMID: 33852348, PMCID: PMC8351563, DOI: 10.1091/mbc.e20-12-0806.Peer-Reviewed Original ResearchConceptsStructural basisCryo-electron tomographyRadial spokesCentral pair complexUnderlying structural basisAxonemal repeatEukaryotic organellesArch domainThree-dimensional structureSubtomogram averagingOrgan positioningCell motilityStructural insightsPrimary ciliary dyskinesiaCiliaHuman ciliaHuman respiratory ciliaRS1Primary defectStructure determinationCiliary dyskinesiaHuman healthOrganellesFlagellaRepeats
2014
Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia
Lin J, Yin W, Smith MC, Song K, Leigh MW, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D. Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia. Nature Communications 2014, 5: 5727. PMID: 25473808, PMCID: PMC4267722, DOI: 10.1038/ncomms6727.Peer-Reviewed Original ResearchConceptsCryo-electron tomographyNative 3D structureNormal human developmentDistant speciesHuman ciliaCilia structurePCD phenotypeCilia dysfunctionHuman diseasesNative structurePrimary ciliary dyskinesiaRadial spokesCiliaEssential roleFunctional heterogeneityHuman respiratory ciliaUnprecedented detailPrimary defectCiliary dyskinesiaUnknown primary defect