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Page 1
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK. Sang L, et al. Among authors: sheffield vc. Cell. 2011 May 13;145(4):513-28. doi: 10.1016/j.cell.2011.04.019. Cell. 2011. PMID: 21565611 Free PMC article.
A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.
Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, Bazan JF, Slusarski DC, Sheffield VC, Jackson PK, Nachury MV. Loktev AV, et al. Among authors: sheffield vc. Dev Cell. 2008 Dec;15(6):854-65. doi: 10.1016/j.devcel.2008.11.001. Dev Cell. 2008. PMID: 19081074 Free article.
Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome.
Westlake CJ, Baye LM, Nachury MV, Wright KJ, Ervin KE, Phu L, Chalouni C, Beck JS, Kirkpatrick DS, Slusarski DC, Sheffield VC, Scheller RH, Jackson PK. Westlake CJ, et al. Among authors: sheffield vc. Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):2759-64. doi: 10.1073/pnas.1018823108. Epub 2011 Jan 27. Proc Natl Acad Sci U S A. 2011. PMID: 21273506 Free PMC article.
An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium.
Wright KJ, Baye LM, Olivier-Mason A, Mukhopadhyay S, Sang L, Kwong M, Wang W, Pretorius PR, Sheffield VC, Sengupta P, Slusarski DC, Jackson PK. Wright KJ, et al. Among authors: sheffield vc. Genes Dev. 2011 Nov 15;25(22):2347-60. doi: 10.1101/gad.173443.111. Genes Dev. 2011. PMID: 22085962 Free PMC article.
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC. Nishimura DY, et al. Among authors: sheffield vc. Am J Hum Genet. 2010 May 14;86(5):686-95. doi: 10.1016/j.ajhg.2010.03.005. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398886 Free PMC article.
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Heon E, et al. Among authors: sheffield vc. Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. doi: 10.1093/hmg/ddw096. Epub 2016 Mar 22. Hum Mol Genet. 2016. PMID: 27008867 Free PMC article.
360 results