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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 JF, 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; UK10K Rare Group; Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. Olcese C, et al. Among authors: vaughan ck. Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279. Nat Commun. 2017. PMID: 28176794 Free PMC article.
Hsp90 picks PIKKs via R2TP and Tel2.
Vaughan CK. Vaughan CK. Structure. 2014 Jun 10;22(6):799-800. doi: 10.1016/j.str.2014.05.012. Structure. 2014. PMID: 24918336 Free PMC article.
Structural and functional basis of protein phosphatase 5 substrate specificity.
Oberoi J, Dunn DM, Woodford MR, Mariotti L, Schulman J, Bourboulia D, Mollapour M, Vaughan CK. Oberoi J, et al. Among authors: vaughan ck. Proc Natl Acad Sci U S A. 2016 Aug 9;113(32):9009-14. doi: 10.1073/pnas.1603059113. Epub 2016 Jul 27. Proc Natl Acad Sci U S A. 2016. PMID: 27466404 Free PMC article.
The ATPase-dependent chaperoning activity of Hsp90a regulates thick filament formation and integration during skeletal muscle myofibrillogenesis.
Hawkins TA, Haramis AP, Etard C, Prodromou C, Vaughan CK, Ashworth R, Ray S, Behra M, Holder N, Talbot WS, Pearl LH, Strähle U, Wilson SW. Hawkins TA, et al. Among authors: vaughan ck. Development. 2008 Mar;135(6):1147-56. doi: 10.1242/dev.018150. Epub 2008 Feb 6. Development. 2008. PMID: 18256191 Free PMC article.
29 results