Klinische Forschergruppe

Erbliche Netzhauterkrankungen:
Klinik, Genetik und Tiermodelle

Publikationen

Michalakis S, Mühlfriedel R, Tanimoto N, Krishnamoorthy V, Koch S, Fischer MD, Becirovic E, Bai L, Huber G, Beck SC, Fahl E, Büning H, Schmidt J, Zong X, Gollisch T, Biel M, Seeliger MW (2012)
Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia.
Adv Exp Med Biol 723:183-189

Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S (2011)
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Hum Mol Genet 20:719-730

Sancho-Pellez J, Paquet-Durand F (2010)
Calpain and poly-ADP-ribose-polymerase (PARP) in inherited photoreceptor neurodegeneration.
Novel Aspects of Neuroprotection, 2010. Eds: Francisco Javier Romero Gómez, Maria Miranda and Jose Miguel Soria

Sancho-Pelluz J, Alavi MV, Sahaboglu A, Kustermann S, Farinelli P, Azadi S, van Veen T, Romero FJ, Paquet-Durand F, Ekström P (2010)
Excessive HDAC activation is critical for neurodegeneration in the rd1 mouse.
Cell Death and Disease (2010) 1, e24

Paquet-Durand F, Sanges D, McCall J, Silva J, Van Veen T, Marigo V, Ekström P (2010)
photoreceptor rescue and toxicity induced by different calpain inhibitors.
J Neurochem 115:930-940

Trifunovic D, Dengler K, Michalakis S, Zrenner E, Wissinger B, Paquet-Durand F (2010)
cGMP-dependent cone photoreceptor degeneration in the cpfl1 mouse retina.
J Comp Neurol 518:3604-3617

Michalakis S, Mühlfriedel R, Tanimoto N, Krishnamoorthy V, Koch S, Fischer MD, Becirovic E, Bai L, Huber G, Beck SC, Fahl E, Büning H, Paquet-Durand F, Zong X, Gollisch T, Biel M, Seeliger MW (2010)
Restoration of Cone Vision in the CNGA3(-/-) Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function.
Mol Ther. 2010 Jul 13. [Epub ahead of print]

Schaeferhoff K, Michalakis S, Tanimoto N, Fischer MD, Becirovic E, Beck SC, Huber G, Rieger N, Riess O, Wissinger B, Biel M, Seeliger MW, Bonin M (2010)
Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice.
Cell Mol Life Sci 67:3173-3186

Fischer MD, Tanimoto N, Beck SC, Huber G, Schaeferhoff K, Michalakis S, Riess O, Wissinger B, Biel M, Bonin M, Seeliger MW (2010)
Structural and Functional Phenotyping in the Cone-Specific Photoreceptor Function Loss 1 (cpfl1) Mouse Mutant – A Model of Cone Dystrophies.
Adv Exp Med Biol 664:593-599

Beck SC, Schaeferhoff K, Michalakis S, Fischer MD, Huber G, Rieger N, Riess O, Wissinger B, Biel M, Bonin M, Seeliger MW, Tanimoto N (2010)
In vivo analysis of cone survival in mice.
Invest Ophthalmol Vis Sci 51:493-497

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C (2009)
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet 85:720-729

Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B (2009)
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
Proc Natl Acad Sci U S A 106:19581-19586

Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, Jägle H, Kohl S, Wissinger B, Koch KW (2009)
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
Hum Mutat 30:E782-796

Huber G, Beck SC, Grimm C, Sahaboglu-Tekgoz A, Paquet-Durand F, Wenzel A, Humphries P, Redmond TM, Seeliger MW, Fischer MD (2009)
Spectral domain optical coherence tomography in mouse models of retinal degeneration.
Invest Ophthalmol Vis Sci 50:5888-5895

Paquet-Durand F, Hauck S, van Veen T, Ueffing M, Ekström P (2009)
PKG activity causes photoreceptor cell death in two Retinitis Pigmentosa models.
J Neurochem 108:796-810

Sancho-Pelluz J, Arango-Gonzalez B, Kustermann S, Romero FJ, van Veen T, Zrenner E, Ekström P, Paquet-Durand F (2008)
Photoreceptor cell death mechanisms in inherited retinal degeneration
Mol Neurobiol 38:253-269

Renner AB, Fiebig BS, Weber BHF, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U (2008)
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2 (peripherin/RDS) gene mutations.
Am J Ophthalmol (E-pub)

Kitiratschky VBD, Wilke R, Renner AB, Kellner U, VadalÃ&xnbsp; M, Birch DG, Wissinger B, Zrenner E, Kohl S (2008)
Mutation analysis identifies GUCY2D as the major gene responsible for progressive autosomal dominant cone degeneration.
Invest Ophthalmol Vis Sci 49: 5015-5023

Kitiratschky V, Zabel T, Nagy D, Zrenner E, Wissinger B, Kohl S, Jägle H (2008)
Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
Br J Ophthalmol 92: 1086-1091

Kitiratschky VBD, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B (2008)
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Eur J Hum Genet 16: 812-819

Wissinger B, Dangel S, Jägle H, Hanse L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T (2008)
Cone Dystrophy with Supernormal Rod Response is strictly associated with Mutations in KCNV2.
Invest Ophthalmol Vis Sci 49: 751-757

Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott DQ, Parapuram S, Bickmore WA, Munro P, Gal A, Hamel C, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS (2007)
Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular RPE Atrophy
American Journal of Human Genetics 81: 1098-1103

Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B (2007)
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
Ophthalmology 114:1348-1357

Cremers FPM, Kimberling WJ, Külm, M, de Brouwer A, van Wijk E, te Brinke H, Cremers CWRJ, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, de Baere E, LeRoy ., Silvestri G, McKay G, Koenekoop RK, Millan J, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston M, Wissinger B, Kremer H (2007)
Development of a genotyping microarray for Usher syndrome.
Journal of Medical Genetics 44:153-160

Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A (2007)
The Phenotype of Early-Onset Retinal Degeneration in Persons with RDH12 Mutations.
Invest Ophthalmol Vis Sci 48:1824-1831

Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W (2006)
Mutation in the auxiliary calcium channel subunit CACNA2D4 causes a mild form of autosomal recessive Cone dystrophy.
American Journal of Human Genetics 79: 973-977.