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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. doi:

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. doi:

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. doi:

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. doi:

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. doi:

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. doi: 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. doi:

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. doi:

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. doi:

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. doi: https://doi.org/10.1167/iovs.15-17503

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. doi:

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. doi:

ARVO Annual Meeting Abstract April 2014

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis

Uwe Wolfrum; Barbara Knapp; Pia Jores; Ronald Roepman; Hannie Kremer; Erwin vanWijk; Katharina Bauss

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6016. doi:

ARVO Annual Meeting Abstract June 2013

High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets

Hanno Bolz; Christine Neuhaus; Markus Preising; Arif Khan; Martin Gliem; Peter Charbel Issa; Uwe Wolfrum; Andreas Gal; Birgit Lorenz; Tobias Eisenberger

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3373. doi:

Retina October 2012

The Retinal Clock Drives the Expression of Kcnv2 , a Channel Essential for Visual Function and Cone Survival

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Philip Hölter; Stefanie Kunst; Tanja Wolloscheck; Debra K. Kelleher; Carsten Sticht; Uwe Wolfrum; Rainer Spessert
TAGS: genes, photoreceptors, regulation, retina, retinal cone, rhythm, rna, messenger, vision, visual processing, polymerase chain reaction
Invest. Ophthalmol. Vis. Sci.. 2012; 53(11):6947-6954. doi: https://doi.org/10.1167/iovs.12-10234

Genetics June 2012

Gene Repair of an Usher Syndrome Causing Mutation by Zinc-Finger Nuclease Mediated Homologous Recombination

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Nora Overlack; Tobias Goldmann; Uwe Wolfrum; Kerstin Nagel-Wolfrum
TAGS: genes, mutation, nuclease, recombination, genetic, usher syndrome, zinc fingers, dna, proteins, genome
Invest. Ophthalmol. Vis. Sci.. 2012; 53(7):4140-4146. doi: https://doi.org/10.1167/iovs.12-9812

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

The USH1G Protein SANS Collaborates With Cytoplasmic Dynein Motor Components In Mammalian Photoreceptor Cells

Nasrin Sorusch; Nora Overlack; Andrea Kunz; Erwin van Wijk; Katharina Bauss; Tina Maerker; Ronald Roepman; Hannie Kremer; Uwe Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):2579. doi:

ARVO Annual Meeting Abstract March 2012

A Potential Role for BBS5 in Regulating Light-Driven Arrestin Translocation in Rod Photoreceptors

W Clay Smith; Benjamin Spitzbarth; Tyler S. Smith; Susan N. Bolch; Jian Li; J. Hugh McDowell; Uwe Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1582. doi:

ARVO Annual Meeting Abstract March 2012

The BBSome In The Photoreceptor Cells And Non-ciliated Retinal Neurons

Uwe Wolfrum; Karl-Heinz Smalla; Maxence Nachury; Benjamin Spitzbarth

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):764. doi:

ARVO Annual Meeting Abstract March 2012

A Comparative Evaluation Of Translational Read-through Inducing Drugs For Treatment Of Ush

Kerstin Nagel-Wolfrum; Tobias Goldmann; Fabian Möller; Nora Overlack; Valery Belakhov; Timor Baasov; Uwe Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5576. doi:

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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

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

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

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

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

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis

High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets

The Retinal Clock Drives the Expression of Kcnv2 , a Channel Essential for Visual Function and Cone Survival

Gene Repair of an Usher Syndrome Causing Mutation by Zinc-Finger Nuclease Mediated Homologous Recombination

The USH1G Protein SANS Collaborates With Cytoplasmic Dynein Motor Components In Mammalian Photoreceptor Cells

A Potential Role for BBS5 in Regulating Light-Driven Arrestin Translocation in Rod Photoreceptors

The BBSome In The Photoreceptor Cells And Non-ciliated Retinal Neurons

A Comparative Evaluation Of Translational Read-through Inducing Drugs For Treatment Of Ush

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