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Forschungsinstitut fuer AugenheilkundeForschungsinstitut fuer AugenheilkundeForschungsinstitut fuer Augenheilkunde
Forschungsinstitut fuer Augenheilkunde
INSTITUTE FOR OPHTHALMIC RESEARCH
FORSCHUNGSINSTITUT FÜR AUGENHEILKUNDE

Selected Publications

2017

  1. Straubinger J, Boldt K, Kuret A, Deng L, Krattenmacher D, Bork N, Desch M, Feil R, Feil S, Nemer M, Ueffing M, Ruth P, Just S, Lukowski R. Amplified pathogenic actions of angiotensin II in cysteine-rich LIM-only protein 4-negative mouse hearts. FASEB J. 2017 Jan 30. pii: fj.201601186. doi:10.1096/ fj.201601186. [Epub ahead of print] PubMed PMID: 28138039.

2016

  1. Weidemann M, Schuster-Gossler K, Stauber M, Wrede C, Hegermann J, Ott T, Boldt K, Beyer T, Serth K, Kremmer E, Blum M, Ueffing M, Gossler A. CFAP157 is a murine downstream effector of FOXJ1 that is specifically required for flagellum morphogenesis and sperm motility. Development. 2016 Dec 15;143(24):4736-4748. PubMed PMID: 27965440.
  2. Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup., Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS. Characterizing the morbid genome of ciliopathies. Genome Biol. 2016 Nov 28;17(1):242. PubMed PMID: 27894351; PubMed Central PMCID: PMC5126998.
  3. Sacco F, Mattioni A, Boldt K, Panni S, Santonico E, Castagnoli L, Ueffing M, Cesareni G. A subset of RAB proteins modulates PP2A phosphatase activity. Sci Rep. 2016 Sep 9;6:32857. doi: 10.1038/srep32857. PubMed PMID: 27611305; PubMed Central PMCID: PMC5017145.
  4. Dernayka L, Rauch N, Jarboui MA, Zebisch A, Texier Y, Horn N, Romano D, Gloeckner CJ, Kriegsheim Av, Ueffing M, Kolch W, Boldt K. Autophosphorylation on S614 inhibits the activity and the transforming potential of BRAF. Cell Signal. 2016 Sep;28(9):1432-9. doi:  0.1016/j.cellsig.2016.06.016. Epub 2016 Jun 21. PubMed PMID: 27345148.
  5. Engel K, Rudelius M, Slawska J, Jacobs L, Ahangarian Abhari B, Altmann B, Kurutz J, Rathakrishnan A, Fernández-Sáiz V, Brunner A, Targosz BS, Loewecke F, Gloeckner CJ, Ueffing M, Fulda S, Pfreundschuh M, Trümper L, Klapper W, Keller U, Jost PJ, Rosenwald A, Peschel C, Bassermann F. USP9X stabilizes XIAP to regulate  mitotic cell death and chemoresistance in aggressive B-cell lymphoma. EMBO Mol Med. 2016 Aug 1;8(8):851-62. doi: 10.15252/emmm.201506047. Print 2016 Aug. PubMed PMID: 27317434; PubMed Central PMCID: PMC4967940.
  6. Guaitoli G, Raimondi F, Gilsbach BK, Gómez-Llorente Y, Deyaert E, Renzi F, Li X, Schaffner A, Jagtap PK, Boldt K, von Zweydorf F, Gotthardt K, Lorimer DD, Yue Z, Burgin A, Janjic N, Sattler M, Versées W, Ueffing M, Ubarretxena-Belandia I, Kortholt A, Gloeckner CJ. Structural model of the dimeric Parkinson's protein LRRK2 reveals a compact architecture involving distant interdomain contacts. Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):E4357-66. doi: 10.1073/pnas.1523708113.  Epub 2016 Jun 29. PubMed PMID: 27357661; PubMed Central PMCID: PMC4968714.
  7. 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.. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. PubMed PMID: 27173435; PubMed Central PMCID: PMC4869170.
  8. Jung B, Padula D, Burtscher I, Landerer C, Lutter D, Theis F, Messias AC, Geerlof A, Sattler M, Kremmer E, Boldt K, Ueffing M, Lickert H. Pitchfork and Gprasp2 Target Smoothened to the Primary Cilium for Hedgehog Pathway Activation. PLoS One. 2016 Feb 22;11(2):e0149477. doi: 10.1371/journal.pone.0149477. eCollection 2016 Feb 22. PubMed PMID: 26901434; PubMed Central PMCID: PMC4763541.
  9. Oroszlán G, Kortvely E, Szakács D, Kocsis A, Dammeier S, Zeck A, Ueffing M, Závodszky P, Pál G, Gál P, Dobó J. 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. J Immunol. 2016 Jan 15;196(2):857-65. doi: 10.4049/jimmunol.1501717. Epub 2015 Dec 16. PubMed PMID: 26673137.
  10. Dammeier S, Nahnsen S, Veit J, Wehner F, Ueffing M, Kohlbacher O. Mass-Spectrometry-Based Proteomics Reveals Organ-Specific Expression Patterns To  Be Used as Forensic Evidence. J Proteome Res. 2016 Jan 4;15(1):182-92. doi: 10.1021/acs.jproteome.5b00704. Epub 2015 Dec 8. PubMed PMID: 26593679.

2015

  1. Lokaj M, Kösling SK, Koerner C, Lange SM, van Beersum SE, van Reeuwijk J, Roepman R, Horn N, Ueffing M, Boldt K, Wittinghofer A. The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function. Structure. 2015 Nov 3;23(11):2122-32. doi: 10.1016/j.str.2015.08.016. Epub 2015 Oct 9. PubMed PMID: 26455799; PubMed Central PMCID: PMC4635315.
  2. Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TM, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJ, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJ, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley  AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF;  UK10K Consortium.; University of Washington Center for Mendelian Genomics., Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol. 2015 Aug;17(8):1074-87. doi: 10.1038/ncb3201. Epub 2015 Jul 13. PubMed PMID: 26167768; PubMed Central PMCID: PMC4536769.
  3. Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K., Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Erratum in: Nat Commun. 2016;7:11270. PubMed PMID: 26044572;  PubMed Central PMCID: PMC4468853.
  4. 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. Identification of hydroxyapatite spherules provides new insight into subretinal pigment epithelial deposit formation in the aging eye. Proc Natl Acad  Sci U S A. 2015 Feb 3;112(5):1565-70. doi: 10.1073/pnas.1413347112. Epub 2015 Jan 20. Erratum in: Proc Natl Acad Sci U S A. 2015 Jul 21;112(29):E3971. PubMed PMID: 25605911; PubMed Central PMCID: PMC4321314.

2014

  1. Sabag AD, Smolkin T, Mumblat Y, Ueffing M, Kessler O, Gloeckner CJ, Neufeld G. The role of the plexin-A2 receptor in Sema3A and Sema3B signal transduction. J Cell Sci. 2014 Dec 15;127(Pt 24):5240-52. doi: 10.1242/jcs.155960. Epub 2014 Oct  21. PubMed PMID: 25335892.
  2. Piccoli G, Onofri F, Cirnaru MD, Kaiser CJ, Jagtap P, Kastenmüller A, Pischedda F, Marte A, von Zweydorf F, Vogt A, Giesert F, Pan L, Antonucci F, Kiel C, Zhang M, Weinkauf S, Sattler M, Sala C, Matteoli M, Ueffing M, Gloeckner CJ. Leucine-rich repeat kinase 2 binds to neuronal vesicles through protein interactions mediated by its C-terminal WD40 domain. Mol Cell Biol. 2014 Jun;34(12):2147-61. doi: 10.1128/MCB.00914-13. Epub 2014 Mar 31. PubMed PMID: 24687852; PubMed Central PMCID: PMC4054300.
  3. Sacco F, Boldt K, Calderone A, Panni S, Paoluzi S, Castagnoli L, Ueffing M, Cesareni G. Combining affinity proteomics and network context to identify new phosphatase substrates and adapters in growth pathways. Front Genet. 2014 May 7;5:115. doi: 10.3389/fgene.2014.00115. eCollection 2014 May 7. PubMed PMID: 24847354; PubMed Central PMCID: PMC4019850.
  4. 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. Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry. Mol Cell Proteomics.  2014 May;13(5):1382-91. doi: 10.1074/mcp.O113.033233. Epub 2014 Feb 21. PubMed PMID: 24563533; PubMed Central PMCID: PMC4014293.
  5. Muda K, Bertinetti D, Gesellchen F, Hermann JS, von Zweydorf F, Geerlof A, Jacob A, Ueffing M, Gloeckner CJ, Herberg FW. Parkinson-related LRRK2 mutation R1441C/G/H impairs PKA phosphorylation of LRRK2 and disrupts its interaction with 14-3-3. Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):E34-43. doi: 10.1073/pnas.1312701111. Epub 2013 Dec 18. PubMed PMID: 24351927; PubMed Central PMCID: PMC3890784.
  6. Boldt K, Gloeckner CJ, Texier Y, von Zweydorf F, Ueffing M. Applying SILAC for the differential analysis of protein complexes. Methods Mol Biol. 2014;1188:177-90. doi: 10.1007/978-1-4939-1142-4_13. PubMed PMID: 25059612.

2013

  1. 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. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet. 2013 Aug;45(8):951-6. doi: 10.1038/ng.2681. Epub 2013 Jun 23. PubMed PMID: 23793029; PubMed Central PMCID: PMC3786259.
  2. Vogt A, Fuerholzner B, Kinkl N, Boldt K, Ueffing M. Isotope coded protein labeling coupled immunoprecipitation (ICPL-IP): a novel approach for quantitative protein complex analysis from native tissue. Mol Cell Proteomics. 2013 May;12(5):1395-406. doi: 10.1074/mcp.O112.023648. Epub 2012 Dec 26. PubMed PMID:  23268931; PubMed Central PMCID: PMC3650347.
  3. 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. Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. PLoS Genet. 2013;9(12):e1003977. doi: 10.1371/journal.pgen.1003977. Epub 2013 Dec 5. PubMed PMID: 24339792; PubMed Central PMCID: PMC3854969.

2012

  1. Texier Y, Kinkl N, Boldt K, Ueffing M. From quantitative protein complex analysis to disease mechanism. Vision Res. 2012 Dec 15;75:108-11. doi: 10.1016/j.visres.2012.08.016. Epub 2012 Sep 23. Review. PubMed PMID: 23010258.
  2. Sriharshan A, Boldt K, Sarioglu H, Barjaktarovic Z, Azimzadeh O, Hieber L, Zitzelsberger H, Ueffing M, Atkinson MJ, Tapio S. Proteomic analysis by SILAC and 2D-DIGE reveals radiation-induced endothelial response: Four key pathways. Journal of Proteomics 2012 75 (8):2319-2330. doi:10.1016/j.jprot.2012.02.009

2011

  1. Kiel C, Vogt A, Campagna A, Chatr-aryamontri A, Swiatek-de Lange M, Beer M, Bolz S, Mack AF, Kinkl N, Cesareni G, Serrano L, Ueffing M. Structural and functional protein network analyses predict novel signaling functions for rhodopsin. Mol Syst Biol. 2011 Nov 22;7:551. doi: 10.1038/msb.2011.83. PubMed PMID: 22108793; PubMed Central PMCID: PMC3261702.
  2. Coene KL, Mans DA, Boldt K, Gloeckner CJ, van Reeuwijk J, Bolat E, Roosing S, Letteboer SJ, Peters TA, Cremers FP, Ueffing M, Roepman R. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium  integrity through interaction with Nek4 serine/threonine kinase. Hum Mol Genet. 2011 Sep 15;20(18):3592-605. doi: 10.1093/hmg/ddr280. Epub 2011 Jun 17. PubMed PMID: 21685204.
  3. Van Campenhout CA, Eitelhuber A, Gloeckner CJ, Giallonardo P, Gegg M, Oller H, Grant SG, Krappmann D, Ueffing M, Lickert H. Dlg3 trafficking and apical tight junction formation is regulated by nedd4 and nedd4-2 e3 ubiquitin ligases. Dev Cell. 2011 Sep 13;21(3):479-91. doi: 10.1016/j.devcel.2011.08.003. PubMed PMID: 21920314; PubMed Central PMCID: PMC4452538.
  4. 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. Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest. 2011 Jun;121(6):2169-80. doi: 10.1172/JCI45627. Epub 2011 May 23. PubMed PMID: 21606596; PubMed Central PMCID:  PMC3104757.
  5. Piccoli G, Condliffe SB, Bauer M, Giesert F, Boldt K, De Astis S, Meixner A, Sarioglu H, Vogt-Weisenhorn DM, Wurst W, Gloeckner CJ, Matteoli M, Sala C, Ueffing M. LRRK2 controls synaptic vesicle storage and mobilization within the recycling pool. J Neurosci. 2011 Feb 9;31(6):2225-37. doi: 10.1523/JNEUROSCI.3730-10.2011. PubMed PMID: 21307259.
  6. Meixner A, Boldt K, Van Troys M, Askenazi M, Gloeckner CJ, Bauer M, Marto JA, Ampe C, Kinkl N, Ueffing M. A QUICK screen for Lrrk2 interaction partners--leucine-rich repeat kinase 2 is involved in actin cytoskeleton dynamics. Mol Cell Proteomics. 2011 Jan;10(1):M110.001172. doi: 10.1074/mcp.M110.001172. Epub 2010 Sep 27. PubMed PMID: 20876399; PubMed Central  PMCID: PMC3013447.

2010 and older

  1. Kinzel D, Boldt K, Davis EE, Burtscher I, Trümbach D, Diplas B, Attié-Bitach T, Wurst W, Katsanis N, Ueffing M, Lickert H. Pitchfork regulates primary cilia disassembly and left-right asymmetry. Dev Cell. 2010 Jul 20;19(1):66-77. doi: 10.1016/j.devcel.2010.06.005. PubMed PMID: 20643351; PubMed Central PMCID: PMC3671612.
  2. Gloeckner CJ, Boldt K, von Zweydorf F, Helm S, Wiesent L, Sarioglu H, Ueffing M. Phosphopeptide analysis reveals two discrete clusters of phosphorylation in the N-terminus and the Roc domain of the Parkinson-disease associated protein kinase LRRK2. J Proteome Res. 2010 Apr 5;9(4):1738-45. doi: 10.1021/pr9008578. PubMed PMID: 20108944.
  3. Kortvely E, Hauck SM, Duetsch G, Gloeckner CJ, Kremmer E, Alge-Priglinger CS, Deeg CA, Ueffing M. ARMS2 is a constituent of the extracellular matrix providing  a link between familial and sporadic age-related macular degenerations. Invest Ophthalmol Vis Sci. 2010 Jan;51(1):79-88. doi: 10.1167/iovs.09-3850. Epub 2009 Aug 20. PubMed PMID: 19696174.
  4. Gloriam DE, Orchard S, Bertinetti D, Björling E, Bongcam-Rudloff E, Borrebaeck CA, Bourbeillon J, Bradbury AR, de Daruvar A, Dübel S, Frank R, Gibson TJ, Gold L, Haslam N, Herberg FW, Hiltke T, Hoheisel JD, Kerrien S, Koegl M, Konthur Z, Korn B, Landegren U, Montecchi-Palazzi L, Palcy S, Rodriguez H, Schweinsberg S, Sievert V, Stoevesandt O, Taussig MJ, Ueffing M, Uhlén M, van der Maarel S, Wingren C, Woollard P, Sherman DJ, Hermjakob H. A community standard format for the representation of protein affinity reagents. Mol Cell Proteomics.  2010 Jan;9(1):1-10. doi: 10.1074/mcp.M900185-MCP200. Epub 2009 Aug 11. PubMed PMID: 19674966; PubMed Central PMCID: PMC2808255.
  5. Apweiler R, Aslanidis C, Deufel T, Gerstner A, Hansen J, Hochstrasser D, Kellner R, Kubicek M, Lottspeich F, Maser E, Mewes HW, Meyer HE, Müllner S, Mutter W, Neumaier M, Nollau P, Nothwang HG, Ponten F, Radbruch A, Reinert K, Rothe G, Stockinger H, Tárnok A, Taussig MJ, Thiel A, Thiery J, Ueffing M, Valet  G, Vandekerckhove J, Wagener C, Wagner O, Schmitz G. Approaching clinical proteomics: current state and future fields of application in cellular proteomics. Cytometry A. 2009 Oct;75(10):816-32. doi: 10.1002/cyto.a.20779. Review. PubMed PMID: 19739086.
  6. Gloeckner CJ, Boldt K, Ueffing M. Strep/FLAG tandem affinity purification (SF-TAP) to study protein interactions. Curr Protoc Protein Sci. 2009 Aug;Chapter 19:Unit19.20. doi:  10.1002/0471140864.ps1920s57. PubMed PMID: 19688738.
  7. Gloeckner CJ, Schumacher A, Boldt K, Ueffing M. The Parkinson disease-associated protein kinase LRRK2 exhibits MAPKKK activity and phosphorylates MKK3/6 and MKK4/7, in vitro. J Neurochem. 2009 May;109(4):959-68.  doi: 10.1111/j.1471-4159.2009.06024.x. Epub 2009 Mar 3. PubMed PMID: 19302196.
  8. Boldt K, van Reeuwijk J, Gloeckner CJ, Ueffing M, Roepman R. Tandem affinity  purification of ciliopathy-associated protein complexes. Methods Cell Biol. 2009;91:143-60. doi: 10.1016/S0091-679X(08)91009-8. Epub 2009 Dec 1. PubMed PMID: 20409786.
  9. Gloeckner CJ, Boldt K, Schumacher A, Ueffing M. Tandem affinity purification  of protein complexes from mammalian cells by the Strep/FLAG (SF)-TAP tag. Methods Mol Biol. 2009;564:359-72. doi: 10.1007/978-1-60761-157-8_21. PubMed PMID: 19544034.
  10. Braun RJ, Kinkl N, Zischka H, Ueffing M. 16-BAC/SDS-PAGE analysis of membrane proteins of yeast mitochondria purified by free flow electrophoresis. Methods Mol Biol. 2009;528:83-107. doi: 10.1007/978-1-60327-310-7_6. PubMed PMID: 19153686.
  11. Gloeckner CJ, Boldt K, Schumacher A, Roepman R, Ueffing M. A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes. Proteomics. 2007 Dec;7(23):4228-34. PubMed PMID: 17979178.
  12. 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. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet. 2007 Jul;39(7):889-95. Epub 2007 Jun 3. PubMed PMID: 17546029.