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Page 1
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.
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S, Lamers IJ, de Vrieze E, van den Born LI, Lambertus S, Arts HH; POC1B Study Group; Peters TA, Hoyng CB, Kremer H, Hetterschijt L, Letteboer SJ, van Wijk E, Roepman R, den Hollander AI, Cremers FP. Roosing S, et al. Am J Hum Genet. 2014 Aug 7;95(2):131-42. doi: 10.1016/j.ajhg.2014.06.012. Epub 2014 Jul 10. Am J Hum Genet. 2014. PMID: 25018096 Free PMC article.
Identification of hydroxyapatite spherules provides new insight into subretinal pigment epithelial deposit formation in the aging eye.
Thompson RB, Reffatto V, Bundy JG, Kortvely E, Flinn JM, Lanzirotti A, Jones EA, McPhail DS, Fearn S, Boldt K, Ueffing M, Ratu SG, Pauleikhoff L, Bird AC, Lengyel I. Thompson RB, et al. Among authors: ueffing m. Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):1565-70. doi: 10.1073/pnas.1413347112. Epub 2015 Jan 20. Proc Natl Acad Sci U S A. 2015. PMID: 25605911 Free PMC article.
MASP-1 and MASP-2 Do Not Activate Pro-Factor D in Resting Human Blood, whereas MASP-3 Is a Potential Activator: Kinetic Analysis Involving Specific MASP-1 and MASP-2 Inhibitors.
Oroszlán G, Kortvely E, Szakács D, Kocsis A, Dammeier S, Zeck A, Ueffing M, Závodszky P, Pál G, Gál P, Dobó J. Oroszlán G, et al. Among authors: ueffing m. J Immunol. 2016 Jan 15;196(2):857-65. doi: 10.4049/jimmunol.1501717. Epub 2015 Dec 16. J Immunol. 2016. PMID: 26673137
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. Boldt K, et al. Among authors: ueffing m. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. Nat Commun. 2016. PMID: 27173435 Free PMC article.
The unconventional secretion of ARMS2.
Kortvely E, Hauck SM, Behler J, Ho N, Ueffing M. Kortvely E, et al. Among authors: ueffing m. Hum Mol Genet. 2016 Aug 1;25(15):3143-3151. doi: 10.1093/hmg/ddw162. Epub 2016 Jun 6. Hum Mol Genet. 2016. PMID: 27270414
Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future.
Colijn JM, Buitendijk GHS, Prokofyeva E, Alves D, Cachulo ML, Khawaja AP, Cougnard-Gregoire A, Merle BMJ, Korb C, Erke MG, Bron A, Anastasopoulos E, Meester-Smoor MA, Segato T, Piermarocchi S, de Jong PTVM, Vingerling JR, Topouzis F, Creuzot-Garcher C, Bertelsen G, Pfeiffer N, Fletcher AE, Foster PJ, Silva R, Korobelnik JF, Delcourt C, Klaver CCW; EYE-RISK consortium; European Eye Epidemiology (E3) consortium. Colijn JM, et al. Ophthalmology. 2017 Dec;124(12):1753-1763. doi: 10.1016/j.ophtha.2017.05.035. Epub 2017 Jul 14. Ophthalmology. 2017. PMID: 28712657 Free PMC article.
330 results