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ARVO Annual Meeting Abstract June 2025

Preclinical efficacy study of AAV-mediated gene therapy in the USH1C R31* pig model

Uwe Wolfrum; Ruslan Nyshchuk; Joshua Klein; Peter Kiraly; Zdenka Ellederova; Tobias Peters; Nikolai Klymiuk; Ashley Winslow; Jan Motlik; Dominik Fischer

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):2480.

Genetics January 2025

Safety of Human USH1C Transgene Expression Following Subretinal Injection in Wild-Type Pigs

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Peter Kiraly; Joshua Klein; Immanuel P. Seitz; Felix F. Reichel; Tobias Peters; Taras Ardan; Jana Juhasova; Stefan Juhás; Zdenka Ellederova; Yaroslav Nemesh; Ruslan Nyshchuk; Nikolai Klymiuk; Kerstin Nagel-Wolfrum; Ashley R. Winslow; Uwe Wolfrum; Jan Motlik; M. Dominik Fischer
TAGS: disease vectors, gene therapy, injections, safety, spatial vectors, suidae, transgenes, retina, histopathology tests, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2025; 66(1):48. https://doi.org/10.1167/iovs.66.1.48

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Transcriptome analysis in the humanized USH1CR31*pig retina reveals new insights into the pathomechanisms underlying USH1C and novel therapeutic targets

Joshua Klein; Vanessa Neumer; Mark Zorin; Kerstin Nagel-Wolfrum; Nikolai Klymiuk; Uwe Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3174.

ARVO Annual Meeting Abstract June 2024

A new subretinal gene therapy for USH1C is well tolerated in wild type pigs

Peter Kiraly; Matthias Mai; Tobias Peters; Immanuel P Seitz; Taras Ardan; Zdenka Ellederova; Yaroslav Nemesh; Ruslan Nyshchuk; Nikolai Klymiuk; Ashley Winslow; Joshua Klein; Kerstin Nagel-Wolfrum; Uwe Wolfrum; Jan Motlik; M Dominik Fischer

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5341.

ARVO Annual Meeting Abstract June 2024

USH1G/SANS ensures correct pre-mRNA splicing of retinal genes especially genes related to Usher syndrome in the retina

Uwe Wolfrum; Elif Diken; Franziska Lang; Adem Yildirim

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6062.

ARVO Annual Meeting Abstract June 2023

Usher syndrome 1C protein harmonin suppresses canonical Wnt-signaling providing novel insights into the pathophysiology of USH1C

Uwe Wolfrum; Jessica Schäfer; Nicole Wenck; Katharina Janik; Joshua Linnert; Vanessa Neumer; Joshua Klein; Katarina Stingl; Susanne Kohl; Nikolai Klymiuk; Kerstin Nagel-Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):421.

ARVO Annual Meeting Abstract June 2022

TMEM97 localization in the adult mouse retina

Steven J Fliesler; Lara Ann Skelton; Sriganesh Ramachandra Rao; Uwe Wolfrum; Stephen Martin

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1761 – F0310.

ARVO Annual Meeting Abstract June 2021

Expression and subcellular localization of USH1C/harmonin in the human retina

Uwe Wolfrum; Benjamin R Fadl; Mirjana M Becker; Daniel Sturm; Kirsten A. Wunderlich; Burcu Gür; Lew Kaplan; Matthew R Brooks; Antje A. Grosche; Anand Swaroop; Kerstin Nagel-Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):533.

ARVO Annual Meeting Abstract July 2019

Retinal Degeneration and Impaired Phagocytosis of Photoreceptor Outer Segment Discs in Prcd -Knockout Mice

Tamar Ben-Yosef; Gilad Allon; Irit Mann; Uwe Wolfrum; Ido Perlman

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2380.

ARVO Annual Meeting Abstract July 2019

The ciliopathy protein SANS (Usher syndrome 1G) regulates pre-mRNA splicing by facilitating the maturation of the spliceosomal tri-snRNP complex

Adem YILDIRIM; Sina M. Jovin; Ann-Kathrin Wallisch; Jessica Ries; Henning Urlaub; Reinhard Lührmann; Uwe Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3988.

ARVO Annual Meeting Abstract July 2019

Generation and phenotypic characterization of a transgenic pig for the Usher syndrome type 1C

Uwe Wolfrum; Sophia Grotz; Kirsten Wunderlich; Janet Plutniok; Georg Dhom; Andrea Fischer; Blutke Andreas; Anna Döring; Helen May-Simera; Kerstin Nageel-Wolfrum; M Dominik Fischer; Eckhard Wolf; Nikolai Klymiuk

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4227.

ARVO Annual Meeting Abstract July 2018

Delivery and deployment of a ciliary actin dynamics module by PCARE drives the neogenesis of phototransductive membrane disks

Rob W J Collin; Julio Cesar Corral Serrano; Jeroen van Reeuwijk; Anita DM Hoogendoorn; Renate AA Ruigrok; Adem Yildirim; Stef JF Letteboer; Lonneke Duijkers; Sanae Sakami; Krzysztof Palczewski; Karsten Boldt; Uwe Wolfrum; Marius Ueffing; Alex Garanto; Ronald Roepman

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4979.

ARVO Annual Meeting Abstract July 2018

Ataluren-mediated read-through of a nonsense mutation in FAM161A gene which causes retinitis pigmentosa

Avigail Beryozkin; Ananya Samanta; Samer Khateb; Eyal Banin; Dror Sharon; Uwe Wolfrum; Kerstin Nagel-Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5324.

Retina August 2017

Novel Insights Into the Phenotypical Spectrum of KIF11 -Associated Retinopathy, Including a New Form of Retinal Ciliopathy

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Johannes Birtel; Martin Gliem; Elisabeth Mangold; Lars Tebbe; Isabel Spier; Philipp L. Müller; Frank G. Holz; Christine Neuhaus; Uwe Wolfrum; Hanno J. Bolz; Peter Charbel Issa
TAGS: ciliopathies, retinal diseases, phenotype
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):3950-3959. https://doi.org/10.1167/iovs.17-21679

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Novel insights in KIF11 -related retinopathy

Johannes Birtel; Martin Gliem; Elisabeth Mangold; Lars Tebbe; Isabel Spier; Philipp Mueller; Frank G Holz; Christine Neuhaus; Uwe Wolfrum; Hanno J. Bolz; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2760.

ARVO Annual Meeting Abstract September 2016

The USH1G scaffold protein SANS is part of the cytoplasmic dynein transport module in the photoreceptor inner segments

Uwe Wolfrum; Nasrin Sorusch; Karsten Boldt; Marius Ueffing; Kirsten A. Wunderlich

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3171.

ARVO Annual Meeting Abstract September 2016

Small molecules for targeting nonsense mutations causing ciliopathies

Fabian Möller; Ananya Samanta; Inessa Penner; Timor Baasov; Uwe Wolfrum; Kerstin Nagel-Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):1184.

Retina September 2015

Pgc-1α and Nr4a1 Are Target Genes of Circadian Melatonin and Dopamine Release in Murine Retina

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Stefanie Kunst; Tanja Wolloscheck; Debra K. Kelleher; Uwe Wolfrum; S. Anna Sargsyan; P. Michael Iuvone; Kenkichi Baba; Gianluca Tosini; Rainer Spessert
TAGS: dopamine, melatonin, mice, retina, transcription, genetic, signal transduction, candidate disease gene
Invest. Ophthalmol. Vis. Sci.. 2015; 56(10):6084-6094. https://doi.org/10.1167/iovs.15-17503

ARVO Annual Meeting Abstract June 2015

BBS5 Organizes a Complex of Proteins along the Photoreceptor Axoneme that Constitutes a Functional cGMP Signaling Cascade

W Clay Smith; Susan Bolch; Donald Dugger; Bilen Kassu; Reshmi Mathew; Olivia Stelmach; J. Hugh McDowell; Victor Hernandez; Uwe Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1702.

ARVO Annual Meeting Abstract June 2015

The SANS-USH2a-whirlin ternary complex of Usher syndrome type 1 and type 2 proteins is disrupted by pathogenic mutations

Uwe Wolfrum; Katharina Bauss; Barbara Knapp; Ananya Samanta; Kerstin Nagel-Wolfrum; Nasrin Sorusch; Biochemistry

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4626.

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Preclinical efficacy study of AAV-mediated gene therapy in the USH1C R31* pig model

Safety of Human USH1C Transgene Expression Following Subretinal Injection in Wild-Type Pigs

Transcriptome analysis in the humanized USH1CR31*pig retina reveals new insights into the pathomechanisms underlying USH1C and novel therapeutic targets

A new subretinal gene therapy for USH1C is well tolerated in wild type pigs

USH1G/SANS ensures correct pre-mRNA splicing of retinal genes especially genes related to Usher syndrome in the retina

Usher syndrome 1C protein harmonin suppresses canonical Wnt-signaling providing novel insights into the pathophysiology of USH1C

TMEM97 localization in the adult mouse retina

Expression and subcellular localization of USH1C/harmonin in the human retina

Retinal Degeneration and Impaired Phagocytosis of Photoreceptor Outer Segment Discs in Prcd -Knockout Mice

The ciliopathy protein SANS (Usher syndrome 1G) regulates pre-mRNA splicing by facilitating the maturation of the spliceosomal tri-snRNP complex

Generation and phenotypic characterization of a transgenic pig for the Usher syndrome type 1C

Delivery and deployment of a ciliary actin dynamics module by PCARE drives the neogenesis of phototransductive membrane disks

Ataluren-mediated read-through of a nonsense mutation in FAM161A gene which causes retinitis pigmentosa

Novel Insights Into the Phenotypical Spectrum of KIF11 -Associated Retinopathy, Including a New Form of Retinal Ciliopathy

Novel insights in KIF11 -related retinopathy

The USH1G scaffold protein SANS is part of the cytoplasmic dynein transport module in the photoreceptor inner segments

Small molecules for targeting nonsense mutations causing ciliopathies

Pgc-1α and Nr4a1 Are Target Genes of Circadian Melatonin and Dopamine Release in Murine Retina

BBS5 Organizes a Complex of Proteins along the Photoreceptor Axoneme that Constitutes a Functional cGMP Signaling Cascade

The SANS-USH2a-whirlin ternary complex of Usher syndrome type 1 and type 2 proteins is disrupted by pathogenic mutations

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