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Genes and molecular pathways underpinning ciliopathies.
Reiter JF, Leroux MR. Reiter JF, et al. Nat Rev Mol Cell Biol. 2017 Sep;18(9):533-547. doi: 10.1038/nrm.2017.60. Epub 2017 Jul 12. Nat Rev Mol Cell Biol. 2017. PMID: 28698599 Free PMC article. Review.
A ciliopathy complex builds distal appendages to initiate ciliogenesis.
Kumar D, Rains A, Herranz-Pérez V, Lu Q, Shi X, Swaney DL, Stevenson E, Krogan NJ, Huang B, Westlake C, Garcia-Verdugo JM, Yoder BK, Reiter JF. Kumar D, et al. J Cell Biol. 2021 Sep 6;220(9):e202011133. doi: 10.1083/jcb.202011133. Epub 2021 Jul 9. J Cell Biol. 2021. PMID: 34241634 Free PMC article.
GPR161 structure uncovers the redundant role of sterol-regulated ciliary cAMP signaling in the Hedgehog pathway.
Hoppe N, Harrison S, Hwang SH, Chen Z, Karelina M, Deshpande I, Suomivuori CM, Palicharla VR, Berry SP, Tschaikner P, Regele D, Covey DF, Stefan E, Marks DS, Reiter JF, Dror RO, Evers AS, Mukhopadhyay S, Manglik A. Hoppe N, et al. Nat Struct Mol Biol. 2024 Apr;31(4):667-677. doi: 10.1038/s41594-024-01223-8. Epub 2024 Feb 7. Nat Struct Mol Biol. 2024. PMID: 38326651
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.
Lewis WR, Bales KL, Revell DZ, Croyle MJ, Engle SE, Song CJ, Malarkey EB, Uytingco CR, Shan D, Antonellis PJ, Nagy TR, Kesterson RA, Mrug MM, Martens JR, Berbari NF, Gross AK, Yoder BK. Lewis WR, et al. FASEB J. 2019 Jan;33(1):1440-1455. doi: 10.1096/fj.201801149R. Epub 2018 Aug 22. FASEB J. 2019. PMID: 30133325 Free PMC article.