- accepted & published -
Schäfer J, Wenck N, Janik K, Linnert, J, Stingl, K, Kohl S, Nagel-Wolfrum K, Wolfrum U (2023) The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling. Front Cell Dev Biol 11:1130058 doi.org/10.3389/fcell.2023.1130058
Nagel-Wolfrum K, Fadl BR, Becker MM, Wunderlich KA, Schäfer J, Sturm D, Gür B, Kaplan L, Goldmann T, Brooks M, Starosk MR, Lokhande A, Apel M, Fath KR, Stingl K, Kohl S, Andrade M, Vetter JM, Pfeiffer N, Grosche A, Swaroop A, Wolfrum U (2023) Characterization of USH1C/harmonin in the human retina provides insights into pathophysiology and therapy options for Usher syndrome. Hum Mol Genet: ddac211. doi: 10.1093/hmg/ddac211, PMID: 35997788.
Krzysko J, Maciag F, Mertens A, Güler BE, Linnert J, Boldt K, Ueffing M, Nagel-Wolfrum K, Heine M, Wolfrum U (2022) The adhesion GPCR VLGR1/ADGRV1 regulates the Ca2+ homeostasis at mitochondria-associated ER membranes. Cells. 11(18):2790. doi: 10.3390/cells11182790. PMID: 36139365
Liu H, Bell K, Herrmann A, Arnhold S, Mercieca K, Anders F, Nagel-Wolfrum K, Thanos S, Prokosch V (2022) Crystallins Play a Crucial Role in Glaucoma and Promote Neuronal Cell Survival in an In Vitro Model Through Modulating Müller Cell Secretion. Invest Ophthalmol Vis Sci. 63(8):3. doi: 10.1167/iovs.63.8.3. PMID: 35816047
Grotz S, Schäfer J, Wunderlich KA, Ellederova Z, Auch H, Bähr A, Runa-Vochozkova P, Plutniok J, Arnold V, Ardan T, Veith M, Santamaria G, Dhom G, Hitzl W, Kessler B, Kurome M, Zakharchenko V, Linnert J, Fischer A, Blutke A, Döring A, Suchankova S, Popelar J, May-Simera H, Laugwitz KL, Vandenberghe LH, Wolf E, Nagel-Wolfrum K, Motlik J, Fischer MD, Wolfrum U, Klymiuk N. Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of Usher syndrome. Embo Mol Med accepted.
Gabriel E, Albanna W, Pasquini G, Ramani A, Josipovic N, Mariappan A, Schinzel F, Karch CM, Bao G, Gottardo M, Suren AA, Hescheler J, Nagel-Wolfrum K, Persico V, Rizzoli SO, Altmüller J, Riparbelli MG, Callaini G, Goureau O, Papantonis A, Busskamp V, Schneider T, Gopalakrishnan J. (2021) Human brain organoids assemble functionally integrated bilateral optic vesicles. Cell Stem Cell. Oct 7;28(10):1740-1757.
Schellens R, de Vrieze E, Graave P, Broekman S, Nagel-Wolfrum K, Peters T, Kremer H, Collin RWJ, van Wijk E (2021) Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa. Int J Mol Sci. 22:9154.
Schubert C, Winter M, Ebert-Jung A, Kierszniowska S, Nagel-Wolfrum K, Schramm T, Link H, Winter S, Unden G (2021) C4-dicarboxylates and l-aspartate utilization by Escherichia coli K-12 in the mouse intestine: l-aspartate as a major substrate for fumarate respiration and as a nitrogen source. Environ Microbiol. :2564-2577.
Vössing C, Owczarek-Lipska M, Nagel-Wolfrum K, Reiff C, Jüschke C, Neidhardt J (2020) Translational Read-Through Therapy of RPGR Nonsense Mutations. Int J Mol Sci. 21:8418. doi: 10.3390/ijms21228418. PMID: 33182541.
Samanta A, Stingl K, Kohl S, Ries J, Linnert J, Nagel-Wolfrum K (2019) Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations. Int J Mol Sci 20:6274. doi: 10.3390/ijms20246274. PMID: 31842393.
Tabujew I, Heidari M, Freidel C, Helm M, Tebbe L, Wolfrum U, Nagel-Wolfrum K, Koynov K, Biehl P, Schacher FH, Potestio R, Peneva K (2019) Tackling the Limitations of Copolymeric Small Interfering RNA Delivery Agents by a Combined Experimental-Computational Approach. Biomacromolecules. 20:4389-4406. doi: 10.1021/acs.biomac.9b01061 PMID: 31686497.
Wolfrum U, Nagel-Wolfrum K (2018) The Usher Syndrome, a Human Ciliopathy. Klin Monbl Augenheilkd. 235:273-280.
Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P , Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan A O, Bolz HJ (2017) NGS reveals the mutational landscape of clinically diagnosed Usher syndrome: CNVs, phenocopies, a predominant target for translational read-through and PEX26mutated in Heimler syndrome Mol Genetics & Genomic Med 5:531-552.
Wiechers L, Samata A, Nagel-Wolfrum K (2017) Das Überlesen von Nonsense-Mutationen - ein pharmakogenetischer Ansatz zur Therapie von Netzhaut-erkrankungen. Medizinische Genetik 29:217–224.
May-Simera H, Nagel-Wolfrum K, Wolfrum U (2017) Cilia - the sensory antennae in the eye. Prog Retin Eye Res 60:144-180.
Sorusch N, Bauß K, Plutniok J, Samanta A, Knapp B, Nagel-Wolfrum K, Wolfrum U (2017). Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. Hum Mol Genet 26:1157-1172.
Nagel-Wolfrum K, Möller F, Penner I, Baasov T, Wolfrum U (2016) Targeting nonsense mutations in diseases with translational read-through-inducing drugs (TRIDs). BioDrugs 30:49-74 (leading article).
Dinculescu A, Stupay RM, Deng WT, Frank DM, Min SH, Boye SL, Chiodo VA, Abrahan CE, Zhu P, Li Q, Strettori E, Novelli E, Nagel-Wolfrum K, Wolfrum U, Smith WC, Hauswirth WW (2016) AAV-mediated Clarin-1 expression in the mouse retina: implications for USH3A gene therapy. PlosOne 11:e0148874.
Jansen F, Kalbe B, Scholz P, Mikosz M, Wunderlich KA, Kurtenbach S, Nagel-Wolfrum K, Wolfrum U, Hatt H, Osterloh S (2016) Impact of the Usher syndrome on olfaction. Hum Mol Genet 25:524-33.
Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K, Mostafa MI, Thiele H, Wolfrum U, Baumgart-Vogt E, Bolz HJ (2016) PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum Mutat 37:170-4.
Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ (2015) C21orf2 encodes a photoreceptor ciliary protein and is mutated in recessive early-onset retinal dystrophy with macular staphyloma. Br J Ophthalmol 99:1725-31.
Palfi A, Chadderton N, O'Reilly M, Nagel-Wolfrum K, Wolfrum U, Bennett J, Humphries P, Kenna P, Millington-Ward S, Farrar J (2015) Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rho(-/-) mouse. Mol Ther Methods Clin Dev 2:15016 eCollection.
Schubert T, Gleiser C, Heiduschka P, Franz C, Nagel-Wolfrum K, Sahaboglu A, Weisschuh N, Eske G, Rohbock K, Rieger N, Paquet-Durand F, Wissinger B, Wolfrum U, Hirt B, Singer W, Rüttiger L, Zimmermann U, Knipper M (2015). Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype. Cell Mol Life Sci 72:3953-69.
Schwarz N, Carr AJ, Lane A, Moeller F, Chen LL, Aguilà M, Muthiah MN, Davidson AE, Kanuga N, Wolfrum U, Nagel-Wolfrum K, Cruz L, Coffey PJ, Cheetham ME, Hardcastle AJ (2015) Translational read-through of the Retinitis Pigmentosa 2 (RP2) Arg120stop mutation in patient iPSC-derived retinal pigment epithelial cells. Hum Mol Genet 24:972-86.
Nagel-Wolfrum K, Möller F, Penner I, and Wolfrum U (2014) Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations. Vis Neurosci 10:1-8.
Karlstetter M, Sorusch N, Caramoy A, Dannhausen K, Scheiffert E, Mirza M, Aslanidis A, Boesl M, Stoehr H, Nagel-Wolfrum K, Tamm ER, Jägle H, Wolfrum U$, and Langmann T$ (2014) Disruption of the Retinitis Pigmentosa 28 gene Fam161a in mice affects the photoreceptor ciliary machinery and leads to retinal degeneration. Hum Mol Genet 23:5197-5210.
Nagel-Wolfrum K, Baasov T, Wolfrum U (2014) Therapy strategies for Usher syndrome type 1C in the retina. Adv Exp Med Biol 801:741-774.
Sorusch N, Wunderlich K, Bauss K, Nagel-Wolfrum K, Wolfrum U (2014) Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies. Adv Exp Med Biol 801:527-533.
Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT (2014) A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. Hum Mutat 35:289-93.
Nagel-Wolfrum K and Wolfrum U (2013) Vesicle transport and photoreceptor death: Fishing for molecular links. Dev Cell 25:435-6.
Goldmann T, Overlack N, van Wyk M, Möller F, Nudelman I, Belakhov V, Baasov T, Wolfrum U, Nagel-Wolfrum K (2012) A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation. EMBO Mol Med 4:1186-99.
Overlack N, Goldmann T, Wolfrum U and Nagel-Wolfrum K (2012) Gene repair of an Usher syndrome causing mutation by zinc finger nucleases mediated homologous recombination. Invest Ophthalmol Visual Sci 53:4140-6.
Goldmann T, Overlack N, Wolfrum U, Nagel-Wolfrum K (2011) PTC124-mediated translational read-through of a nonsense mutation causing Usher type 1C. Hum Gene Ther 22:537-47.
Overlack N, Goldmann T, Wolfrum U, Nagel-Wolfrum K, (2011) Current therapeutic strategies for human Usher syndrome. In: Satpal Ahuja (ed) Usher Syndrome: Pathogenesis, Diagnosis and Therapy. Nova Science Publishers, Inc. USA., Chapter 22, pp 377-395.
Chakarova CF, Khanna H, Shah AZ, Patil SB, Sedmak T, Murga-Zamalloa CA, Papaioannou MG, Nagel-Wolfrum K, Lopez I, Munro P, Cheetham M, Koenekoop RK, Rios RM, Matter K, Wolfrum U, Swaroop A and Bhattacharya SS (2011) TOPORS, Implicated in Retinal Degeneration, is a Cilia-Centrosomal Protein. Hum Mol Genet 20:975-87.
Goldmann T, Rebibo-Sabbah A, Overlack N, Nudelman I, Belakhov V, Baasov T, Ben-Yosef T, Wolfrum U, Nagel-Wolfrum K (2010) Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina. Invest Ophthalmol Visual Sci 51:6671-80.
Overlack N, Nagel-Wolfrum K, Wolfrum U (2010) The role of cadherins in sensory cell function In: Yoshida K (ed) Molecular and Functional Diversities of Cadherin and Protocadherin. Chapter 17, pp 259-272.
Evans RJ, Schwarz N, Nagel-Wolfrum K, Wolfrum U, Hardcastle AJ, Cheetham ME (2010) The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium Hum Mol Genet 19:1358-67.
Overlack N*, Märker T*, Latz, M, Nagel-Wolfrum, K, Wolfrum U (2008) SANS (USH1G) expression in developing and mature mammalian retina. Vision Res 48:400-412 (*first authors contributed equally to the work).
den Hollander AI., Koenekoo 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 FFJ, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SEC, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FPM, Inglehearn CF, Roepman R (2007) Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 39:889–895.
Reiners J*, Nagel-Wolfrum K*, Jürgens K, Märker T, Wolfrum U (2006) Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 83:97-119 (*equal contributions).
Nagel-Wolfrum K, Buerger C, Wittig I, Butz K, Hoppe-Seyler F, Groner B (2004) The interaction of specific peptide aptamers with the DNA binding domain and the dimerization domain of the transcription factor Stat3 inhibits transactivation and induces apoptosis in tumor cells. Mol Cancer Res 2:170-82.
Buerger C, Nagel-Wolfrum K, Kunz C, Wittig I, Butz K, Hoppe-Seyler F, Groner B. (2003) Sequence-specific peptide aptamers, interacting with the intracellular domain of the epidermal growth factor receptor, interfere with Stat3 activation and inhibit the growth of tumor cells. J Biol Chem 278:37610-21.