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Efficacy and Safety of Retinal Gene Therapy Using Adeno-Associated Virus Vector for Patients With Choroideremia: A Randomized Clinical Trial.

Fischer MD, Ochakovski GA, Beier B, Seitz IP, Vaheb Y, Kortuem C, Reichel FFL, Kuehlewein L, Kahle NA, Peters T, Girach A, Zrenner E, Ueffing M, MacLaren RE, Bartz-Schmidt KU, Wilhelm B.

JAMA Ophthalmol. 2019 Aug 29. doi: 10.1001/jamaophthalmol.2019.3278. [Epub ahead of print]


Merging organoid and organ-on-a-chip technology to generate complex multi-layer tissue models in a human retina-on-a-chip platform.

Achberger K, Probst C, Haderspeck J, Bolz S, Rogal J, Chuchuy J, Nikolova M, Cora V, Antkowiak L, Haq W, Shen N, Schenke-Layland K, Ueffing M, Liebau S, Loskill P.

Elife. 2019 Aug 27;8. pii: e46188. doi: 10.7554/eLife.46188.


Affinity proteomics identifies novel functional modules related to adhesion GPCRs.

Knapp B, Roedig J, Boldt K, Krzysko J, Horn N, Ueffing M, Wolfrum U.

Ann N Y Acad Sci. 2019 Aug 22. doi: 10.1111/nyas.14220. [Epub ahead of print]


A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration.

Handa JT, Bowes Rickman C, Dick AD, Gorin MB, Miller JW, Toth CA, Ueffing M, Zarbin M, Farrer LA.

Nat Commun. 2019 Jul 26;10(1):3347. doi: 10.1038/s41467-019-11262-1. Review.


Metabolomics in serum of patients with non-advanced age-related macular degeneration reveals aberrations in the glutamine pathway.

Kersten E, Dammeier S, Ajana S, Groenewoud JMM, Codrea M, Klose F, Lechanteur YT, Fauser S, Ueffing M, Delcourt C, Hoyng CB, de Jong EK, den Hollander AI; EYE-RISK Consortium.

PLoS One. 2019 Jun 20;14(6):e0218457. doi: 10.1371/journal.pone.0218457. eCollection 2019.


Transcriptional and metabolic rewiring of colorectal cancer cells expressing the oncogenic KRASG13D mutation.

Charitou T, Srihari S, Lynn MA, Jarboui MA, Fasterius E, Moldovan M, Shirasawa S, Tsunoda T, Ueffing M, Xie J, Xin J, Wang X, Proud CG, Boldt K, Al-Khalili Szigyarto C, Kolch W, Lynn DJ.

Br J Cancer. 2019 Jul;121(1):37-50. doi: 10.1038/s41416-019-0477-7. Epub 2019 May 28.


CiliaCarta: An integrated and validated compendium of ciliary genes.

van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, van Reeuwijk J, Wheway G, Knapp B, Scheel JF, Franco B, Mans DA, van Wijk E, Képès F, Slaats GG, Toedt G, Kremer H, Omran H, Szymanska K, Koutroumpas K, Ueffing M, Nguyen TT, Letteboer SJF, Oud MM, van Beersum SEC, Schmidts M, Beales PL, Lu Q, Giles RH, Szklarczyk R, Russell RB, Gibson TJ, Johnson CA, Blacque OE, Wolfrum U, Boldt K, Roepman R, Hernandez-Hernandez V, Huynen MA.

PLoS One. 2019 May 16;14(5):e0216705. doi: 10.1371/journal.pone.0216705. eCollection 2019.


A Cleared View on Retinal Organoids.

Cora V, Haderspeck J, Antkowiak L, Mattheus U, Neckel PH, Mack AF, Bolz S, Ueffing M, Pashkovskaia N, Achberger K, Liebau S.

Cells. 2019 Apr 28;8(5). pii: E391. doi: 10.3390/cells8050391.


Combined Targeted Analysis of Metabolites and Proteins in Tear Fluid With Regard to Clinical Applications.

Dammeier S, Martus P, Klose F, Seid M, Bosch D, D'Alvise J, Ziemssen F, Dimopoulos S, Ueffing M.

Transl Vis Sci Technol. 2018 Dec 6;7(6):22. doi: 10.1167/tvst.7.6.22. eCollection 2018 Nov.


Multipass spectral broadening of 18  mJ pulses compressible from 1.3  ps to 41  fs.

Kaumanns M, Pervak V, Kormin D, Leshchenko V, Kessel A, Ueffing M, Chen Y, Nubbemeyer T.

Opt Lett. 2018 Dec 1;43(23):5877-5880. doi: 10.1364/OL.43.005877.


Phosphorylation of the neurogenic transcription factor SOX11 on serine 133 modulates neuronal morphogenesis.

Balta EA, Schäffner I, Wittmann MT, Sock E, von Zweydorf F, von Wittgenstein J, Steib K, Heim B, Kremmer E, Häberle BM, Ueffing M, Lie DC, Gloeckner CJ.

Sci Rep. 2018 Nov 1;8(1):16196. doi: 10.1038/s41598-018-34480-x.



Fischer MD, Ochakovski GA, Beier B, Seitz IP, Vaheb Y, Kortuem C, Reichel FFL, Kuehlewein L, Kahle NA, Peters T, Girach A, Zrenner E, Ueffing M, MacLaren RE, Bartz-Schmidt K, Wilhelm B.

Retina. 2018 Oct 9. doi: 10.1097/IAE.0000000000002360. [Epub ahead of print]


The evolutionary conserved FOXJ1 target gene Fam183b is essential for motile cilia in Xenopus but dispensable for ciliary function in mice.

Beckers A, Ott T, Schuster-Gossler K, Boldt K, Alten L, Ueffing M, Blum M, Gossler A.

Sci Rep. 2018 Oct 2;8(1):14678. doi: 10.1038/s41598-018-33045-2.


The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium.

Ying G, Boldt K, Ueffing M, Gerstner CD, Frederick JM, Baehr W.

J Biol Chem. 2018 Nov 9;293(45):17546-17558. doi: 10.1074/jbc.RA118.005484. Epub 2018 Sep 18.


Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3-Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial.

Kahle NA, Peters T, Zobor D, Kuehlewein L, Kohl S, Zhour A, Werner A, Seitz IP, Sothilingam V, Michalakis S, Biel M, Ueffing M, Zrenner E, Bartz-Schmidt KU, Fischer MD, Wilhelm BJC.

Hum Gene Ther Clin Dev. 2018 Sep;29(3):121-131. doi: 10.1089/humc.2018.088.


Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis.

Falk N, Kessler K, Schramm SF, Boldt K, Becirovic E, Michalakis S, Regus-Leidig H, Noegel AA, Ueffing M, Thiel CT, Roepman R, Brandstätter JH, Gießl A.

J Cell Sci. 2018 Aug 17;131(16). pii: jcs218487. doi: 10.1242/jcs.218487.


A new perspective on lipid research in age-related macular degeneration.

van Leeuwen EM, Emri E, Merle BMJ, Colijn JM, Kersten E, Cougnard-Gregoire A, Dammeier S, Meester-Smoor M, Pool FM, de Jong EK, Delcourt C, Rodrigez-Bocanegra E, Biarnés M, Luthert PJ, Ueffing M, Klaver CCW, Nogoceke E, den Hollander AI, Lengyel I.

Prog Retin Eye Res. 2018 Nov;67:56-86. doi: 10.1016/j.preteyeres.2018.04.006. Epub 2018 May 4. Review.


Primary Rod and Cone Degeneration Is Prevented by HDAC Inhibition.

Trifunović D, Petridou E, Comitato A, Marigo V, Ueffing M, Paquet-Durand F.

Adv Exp Med Biol. 2018;1074:367-373. doi: 10.1007/978-3-319-75402-4_45.


Nonlinear pulse compression in a gas-filled multipass cell.

Ueffing M, Reiger S, Kaumanns M, Pervak V, Trubetskov M, Nubbemeyer T, Krausz F.

Opt Lett. 2018 May 1;43(9):2070-2073. doi: 10.1364/OL.43.002070.


Humoral Immune Response After Intravitreal But Not After Subretinal AAV8 in Primates and Patients.

Reichel FF, Peters T, Wilhelm B, Biel M, Ueffing M, Wissinger B, Bartz-Schmidt KU, Klein R, Michalakis S, Fischer MD; RD-CURE Consortium.

Invest Ophthalmol Vis Sci. 2018 Apr 1;59(5):1910-1915. doi: 10.1167/iovs.17-22494.


CRISPR/Cas9-mediated Genomic Editing of Cluap1/IFT38 Reveals a New Role in Actin Arrangement.

Beyer T, Bolz S, Junger K, Horn N, Moniruzzaman M, Wissinger Y, Ueffing M, Boldt K.

Mol Cell Proteomics. 2018 Jul;17(7):1285-1294. doi: 10.1074/mcp.RA117.000487. Epub 2018 Apr 3.


Combination of cGMP analogue and drug delivery system provides functional protection in hereditary retinal degeneration.

Vighi E, Trifunović D, Veiga-Crespo P, Rentsch A, Hoffmann D, Sahaboglu A, Strasser T, Kulkarni M, Bertolotti E, van den Heuvel A, Peters T, Reijerkerk A, Euler T, Ueffing M, Schwede F, Genieser HG, Gaillard P, Marigo V, Ekström P, Paquet-Durand F.

Proc Natl Acad Sci U S A. 2018 Mar 27;115(13):E2997-E3006. doi: 10.1073/pnas.1718792115. Epub 2018 Mar 12.


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.

Hum Mol Genet. 2018 Feb 1;27(3):529-545. doi: 10.1093/hmg/ddx422.


Rods progressively escape saturation to drive visual responses in daylight conditions.

Tikidji-Hamburyan A, Reinhard K, Storchi R, Dietter J, Seitter H, Davis KE, Idrees S, Mutter M, Walmsley L, Bedford RA, Ueffing M, Ala-Laurila P, Brown TM, Lucas RJ, Münch TA.

Nat Commun. 2017 Nov 27;8(1):1813. doi: 10.1038/s41467-017-01816-6.


Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV8 in Nonhuman Primates.

Seitz IP, Michalakis S, Wilhelm B, Reichel FF, Ochakovski GA, Zrenner E, Ueffing M, Biel M, Wissinger B, Bartz-Schmidt KU, Peters T, Fischer MD; RD-CURE Consortium.

Invest Ophthalmol Vis Sci. 2017 Nov 1;58(13):5792-5801. doi: 10.1167/iovs.17-22473.


Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.

Wills ES, Te Morsche RHM, van Reeuwijk J, Horn N, Geomini I, van de Laarschot LFM, Mans DA, Ueffing M, Boldt K, Drenth JPH, Roepman R.

Hum Mol Genet. 2017 Nov 1;26(21):4190-4202. doi: 10.1093/hmg/ddx308.


AAV8 Can Induce Innate and Adaptive Immune Response in the Primate Eye.

Reichel FF, Dauletbekov DL, Klein R, Peters T, Ochakovski GA, Seitz IP, Wilhelm B, Ueffing M, Biel M, Wissinger B, Michalakis S, Bartz-Schmidt KU, Fischer MD; RD-CURE Consortium.

Mol Ther. 2017 Dec 6;25(12):2648-2660. doi: 10.1016/j.ymthe.2017.08.018. Epub 2017 Aug 31.


1700012B09Rik, a FOXJ1 effector gene active in ciliated tissues of the mouse but not essential for motile ciliogenesis.

Stauber M, Boldt K, Wrede C, Weidemann M, Kellner M, Schuster-Gossler K, Kühnel MP, Hegermann J, Ueffing M, Gossler A.

Dev Biol. 2017 Sep 1;429(1):186-199. doi: 10.1016/j.ydbio.2017.06.027. Epub 2017 Jun 28.


Systemic and ocular fluid compounds as potential biomarkers in age-related macular degeneration.

Kersten E, Paun CC, Schellevis RL, Hoyng CB, Delcourt C, Lengyel I, Peto T, Ueffing M, Klaver CCW, Dammeier S, den Hollander AI, de Jong EK.

Surv Ophthalmol. 2018 Jan - Feb;63(1):9-39. doi: 10.1016/j.survophthal.2017.05.003. Epub 2017 May 15. Review.


Design, Implementation and Operation of a Reading Center Platform for Clinical Studies.

Clin L, Leitritz MA, Dietter J, Dynowski M, Burgert O, Ueffing M, Thies C.

Stud Health Technol Inform. 2017;235:33-37.


1  kW, 200  mJ picosecond thin-disk laser system.

Nubbemeyer T, Kaumanns M, Ueffing M, Gorjan M, Alismail A, Fattahi H, Brons J, Pronin O, Barros HG, Major Z, Metzger T, Sutter D, Krausz F.

Opt Lett. 2017 Apr 1;42(7):1381-1384. doi: 10.1364/OL.42.001381.


HDAC inhibition in the cpfl1 mouse protects degenerating cone photoreceptors in vivo.

Trifunović D, Arango-Gonzalez B, Comitato A, Barth M, Del Amo EM, Kulkarni M, Sahaboglu A, Hauck SM, Urtti A, Arsenijevic Y, Ueffing M, Marigo V, Paquet-Durand F.

Hum Mol Genet. 2016 Oct 15;25(20):4462-4472. doi: 10.1093/hmg/ddw275.


Amplified pathogenic actions of angiotensin II in cysteine-rich LIM-only protein 4-negative mouse hearts.

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.

FASEB J. 2017 Apr;31(4):1620-1638. doi: 10.1096/fj.201601186. Epub 2017 Jan 30.


Formin like 1 expression is increased on CD4+ T lymphocytes in spontaneous autoimmune uveitis.

Degroote RL, Uhl PB, Amann B, Krackhardt AM, Ueffing M, Hauck SM, Deeg CA.

J Proteomics. 2017 Feb 10;154:102-108. doi: 10.1016/j.jprot.2016.12.015. Epub 2017 Jan 3.


CFAP157 is a murine downstream effector of FOXJ1 that is specifically required for flagellum morphogenesis and sperm motility.

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.

Development. 2016 Dec 15;143(24):4736-4748.


Characterizing the morbid genome of ciliopathies.

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.

Genome Biol. 2016 Nov 28;17(1):242.


Organotypic retinal explant cultures as in vitro alternative for diabetic retinopathy studies.

Valdés J, Trachsel-Moncho L, Sahaboglu A, Trifunović D, Miranda M, Ueffing M, Paquet-Durand F, Schmachtenberg O.

ALTEX. 2016;33(4):459-464. doi: 10.14573/altex.1603111. Epub 2016 May 9.


A subset of RAB proteins modulates PP2A phosphatase activity.

Sacco F, Mattioni A, Boldt K, Panni S, Santonico E, Castagnoli L, Ueffing M, Cesareni G.

Sci Rep. 2016 Sep 9;6:32857. doi: 10.1038/srep32857.


Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C.

Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009.


Efficacy of PARP inhibition in Pde6a mutant mouse models for retinitis pigmentosa depends on the quality and composition of individual human mutations.

Jiao K, Sahaboglu A, Zrenner E, Ueffing M, Ekström PA, Paquet-Durand F.

Cell Death Discov. 2016 Jul 4;2:16040. doi: 10.1038/cddiscovery.2016.40. eCollection 2016.


Direct regenerative amplification of femtosecond pulses to the multimillijoule level.

Ueffing M, Lange R, Pleyer T, Pervak V, Metzger T, Sutter D, Major Z, Nubbemeyer T, Krausz F.

Opt Lett. 2016 Aug 15;41(16):3840-3. doi: 10.1364/OL.41.003840.


Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

Yang J, Bassuk AG, Merl-Pham J, Hsu CW, Colgan DF, Li X, Au KS, Zhang L, Smemo S, Justus S, Nagahama Y, Grossbach AJ, Howard MA 3rd, Kawasaki H, Feldstein NA, Dobyns WB, Northrup H, Hauck SM, Ueffing M, Mahajan VB, Tsang SH.

Hum Mol Genet. 2016 Oct 1;25(19):4201-4210. doi: 10.1093/hmg/ddw253. Epub 2016 Aug 11.


Structural model of the dimeric Parkinson's protein LRRK2 reveals a compact architecture involving distant interdomain contacts.

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.

Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):E4357-66. doi: 10.1073/pnas.1523708113. Epub 2016 Jun 29.


Autophosphorylation on S614 inhibits the activity and the transforming potential of BRAF.

Dernayka L, Rauch N, Jarboui MA, Zebisch A, Texier Y, Horn N, Romano D, Gloeckner CJ, Kriegsheim Av, Ueffing M, Kolch W, Boldt K.

Cell Signal. 2016 Sep;28(9):1432-9. doi: 10.1016/j.cellsig.2016.06.016. Epub 2016 Jun 21.


USP9X stabilizes XIAP to regulate mitotic cell death and chemoresistance in aggressive B-cell lymphoma.

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.

EMBO Mol Med. 2016 Aug 1;8(8):851-62. doi: 10.15252/emmm.201506047. Print 2016 Aug.


The unconventional secretion of ARMS2.

Kortvely E, Hauck SM, Behler J, Ho N, Ueffing M.

Hum Mol Genet. 2016 Aug 1;25(15):3143-3151. doi: 10.1093/hmg/ddw162. Epub 2016 Jun 6.


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.

Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491.


Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

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.

Nat Commun. 2016 Mar 29;7:11270. doi: 10.1038/ncomms11270. No abstract available.


Proteomic Profiling Suggests Central Role Of STAT Signaling during Retinal Degeneration in the rd10 Mouse Model.

Ly A, Merl-Pham J, Priller M, Gruhn F, Senninger N, Ueffing M, Hauck SM.

J Proteome Res. 2016 Apr 1;15(4):1350-9. doi: 10.1021/acs.jproteome.6b00111. Epub 2016 Mar 14.


Differential Response and Priming Dose Effect on the Proteome of Human Fibroblast and Stem Cells Induced by Exposure to Low Doses of Ionizing Radiation.

Hauptmann M, Haghdoost S, Gomolka M, Sarioglu H, Ueffing M, Dietz A, Kulka U, Unger K, Babini G, Harms-Ringdahl M, Ottolenghi A, Hornhardt S.

Radiat Res. 2016 Mar;185(3):299-312. doi: 10.1667/RR14226.1. Epub 2016 Mar 2.


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