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DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA. Hartill VL, et al. Among authors: ueffing m. Hum Mol Genet. 2018 Feb 1;27(3):529-545. doi: 10.1093/hmg/ddx422. Hum Mol Genet. 2018. PMID: 29228333 Free PMC article.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. den Hollander AI, et al. Among authors: ueffing m. Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546029
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
Boldt K, Mans DA, Won J, van Reeuwijk J, Vogt A, Kinkl N, Letteboer SJ, Hicks WL, Hurd RE, Naggert JK, Texier Y, den Hollander AI, Koenekoop RK, Bennett J, Cremers FP, Gloeckner CJ, Nishina PM, Roepman R, Ueffing M. Boldt K, et al. Among authors: ueffing m. J Clin Invest. 2011 Jun;121(6):2169-80. doi: 10.1172/JCI45627. Epub 2011 May 23. J Clin Invest. 2011. PMID: 21606596 Free PMC article.
From quantitative protein complex analysis to disease mechanism.
Texier Y, Kinkl N, Boldt K, Ueffing M. Texier Y, et al. Among authors: ueffing m. Vision Res. 2012 Dec 15;75:108-11. doi: 10.1016/j.visres.2012.08.016. Epub 2012 Sep 23. Vision Res. 2012. PMID: 23010258 Free article. Review.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. Hoff S, et al. Among authors: ueffing m. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23. Nat Genet. 2013. PMID: 23793029 Free PMC article.
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
Cevik S, Sanders AA, Van Wijk E, Boldt K, Clarke L, van Reeuwijk J, Hori Y, Horn N, Hetterschijt L, Wdowicz A, Mullins A, Kida K, Kaplan OI, van Beersum SE, Man Wu K, Letteboer SJ, Mans DA, Katada T, Kontani K, Ueffing M, Roepman R, Kremer H, Blacque OE. Cevik S, et al. Among authors: ueffing m. PLoS Genet. 2013;9(12):e1003977. doi: 10.1371/journal.pgen.1003977. Epub 2013 Dec 5. PLoS Genet. 2013. PMID: 24339792 Free PMC article.
Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry.
Texier Y, Toedt G, Gorza M, Mans DA, van Reeuwijk J, Horn N, Willer J, Katsanis N, Roepman R, Gibson TJ, Ueffing M, Boldt K. Texier Y, et al. Among authors: ueffing m. Mol Cell Proteomics. 2014 May;13(5):1382-91. doi: 10.1074/mcp.O113.033233. Epub 2014 Feb 21. Mol Cell Proteomics. 2014. PMID: 24563533 Free PMC article.
330 results