22 Result(s)

Article

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

Retinitis pigmentosa (RP), an inherited blinding disease, is caused by a variety of different mutations that affect retinal photoreceptor function and survival. So far there is neither effective treatment nor ...

K Jiao, A Sahaboglu, E Zrenner, M Ueffing, P A R Ekström… in Cell Death Discovery (2016)

Article

Behandlung heredodegenerativer Netzhauterkrankungen heute und in Zukunft

Prof. Dr. K.U. Bartz-Schmidt, M. Ueffing in Der Ophthalmologe (2015)

Article

From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape

Q Lu, K Koutroumpas, K Boldt, J Van Reeuwijk, N Katsanis, F Képès, R Roepman… in Cilia (2015)

Article

A systems biology approach towards the prediction of ciliopathy mechanisms

K Koutroumpas, J Van Dam, G Toedt, Q Lu, J Van Reeuwijk, K Boldt, T Gibson… in Cilia (2015)

Article

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

K Szymanska, G Wheway, D Doherty, M Schmidts, D Mans, TMT Nguyen, K Boldt, G Tödt… in Cilia (2015)

Article

Pericentrin interacts with KASH domain-containing protein Syne-2

N Falk, K Kessler, J Glöckner, K Boldt, M Ueffing, R Roepman, C Thiel… in Cilia (2015)

Article

PDZD7 connects the Usher protein complex to the intraflagellar transport machinery

E De Vrieze, L Creemers, N Sorusch, M Gorris, J Van Reeuwijk, S Van Beersum… in Cilia (2015)

Article

Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics

K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, N Horn, S Van Beersum, Y Texier… in Cilia (2015)

Article

Knockout of PARG110 confers resistance to cGMP-induced toxicity in mammalian photoreceptors

Hereditary retinal degeneration (RD) relates to a heterogeneous group of blinding human diseases in which the light sensitive neurons of the retina, the photoreceptors, die. RD is currently untreatable and the...

A Sahaboglu, N Tanimoto, S Bolz, M G Garrido, M Ueffing… in Cell Death & Disease (2014)

Article

Retinitis pigmentosa: rapid neurodegeneration is governed by slow cell death mechanisms

For most neurodegenerative diseases the precise duration of an individual cell’s death is unknown, which is an obstacle when counteractive measures are being considered. To address this, we used the rd1 mouse mod...

A Sahaboglu, O Paquet-Durand, J Dietter, K Dengler, S Bernhard-Kurz… in Cell Death & Disease (2013)

Article

Dissecting the sub-structure of the intraflagellar transport complex B

Y Texier, J van Reeuwijk, DA Mans, R Roepman, K Boldt, M Ueffing in Cilia (2012)

Article

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

K Boldt, DA Mans, J Won, J van Reeuwijk, Y Texier, PM Nishina, R Roepman… in Cilia (2012)

Article

The lebercilin-like protein is embedded in a ciliary protein network and is preferentially expressed in motile cilia

DA Mans, KLM Coene, K Boldt, IJC Lamers, J van Reeuwijk, NT Loges, E Bolat… in Cilia (2012)

Article

Scrutinizing ciliopathies by unravelling the ciliary interactome

J van Reeuwijk, K Boldt, DA Mans, Y Texier, SE van Beersum, SJ Letteboer… in Cilia (2012)

Article

Differential requirements of ciliogenic/ciliopathy module components in restricting Joubert syndrome-associated Arl13b to a C. elegans Inv-like ciliary compartment

O Blacque, S Cevik, L Clarke, E Van Wijk, A Sanders, J Van Reeuwijk, K Boldt… in Cilia (2012)

Article

Identification of novel interaction partners for Vlgr1b/GPR98 - a key component of the periciliary Usher syndrome protein network in photoreceptor cells

B Knapp, SJ Letteboer, E van Wijk, K Boldt, M Ueffing, H Kremer, R Roepman… in Cilia (2012)

Article

SYSCILIA, “A systems biology approach to dissect cilia function and its disruption in human genetic disease”

R Roepman, M Ueffing, H Kremer, MA Huynen, TJ Gibson, N Katsanis, GT Walz… in Cilia (2012)