2024
Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesis
Li Y, Xu W, Cheng Y, Djenoune L, Zhuang C, Cox A, Britto C, Yuan S, Wang S, Sun Z. Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2402818121. PMID: 39541357, PMCID: PMC11588059, DOI: 10.1073/pnas.2402818121.Peer-Reviewed Original ResearchMeSH KeywordsAxonemal DyneinsAxonemeChlamydomonas reinhardtiiMolecular ChaperonesProtein BiosynthesisRNA, MessengerConceptsDynein axonemal assembly factorsAssembly factorsCytosolic fociOuter dynein armsMacromolecular machinesAxonemal dyneinsAssembly hubDynein armsMolecular condensateLiquid-liquid phase separationCochaperoneEncoding mRNAFoci formationCiliary motilityStable interactionLRRC6Functional significanceRUVBL1DyneinMRNAAssembly of multiple componentsAssemblyPotential mechanismsRUVBL2Biogenesis
2017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon J, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C, Amselem S, Sun Z, Bartoloni L, Blouin J, Mitchison H. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications 2017, 8: 14279. PMID: 28176794, PMCID: PMC5309803, DOI: 10.1038/ncomms14279.Peer-Reviewed Original ResearchAdolescentAdultAnimalsApoptosis Regulatory ProteinsAxonemal DyneinsAxonemeChildChild, PreschoolCiliaCytoplasmDisease Models, AnimalExome SequencingFemaleGenes, X-LinkedGenetic Diseases, X-LinkedHEK293 CellsHSP90 Heat-Shock ProteinsHumansInfant, NewbornIntracellular Signaling Peptides and ProteinsKartagener SyndromeMaleMicroscopy, Electron, TransmissionMicrotubule ProteinsMolecular ChaperonesPedigreePhylogenyPoint MutationProtein FoldingSequence AlignmentSequence DeletionSperm MotilityZebrafish