Zobrazeno 1 - 10
of 158
pro vyhledávání: '"Ronald Roepman"'
Autor:
Tess A.V. Afanasyeva, Dimitra Athanasiou, Pedro R.L. Perdigao, Kae R. Whiting, Lonneke Duijkers, Galuh D.N. Astuti, Jean Bennett, Alejandro Garanto, Jacqueline van der Spuy, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 522-531 (2023)
Mutations in the lebercilin-encoding gene LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report on the generation of a patient-specific cellular
Externí odkaz:
https://doaj.org/article/638b92cd785044729f1ee8d162702be3
Autor:
Siebren Faber, Olivier Mercey, Katrin Junger, Alejandro Garanto, Helen May-Simera, Marius Ueffing, Rob W.J. Collin, Karsten Boldt, Paul Guichard, Virginie Hamel, Ronald Roepman
Publikováno v:
JCI Insight, Vol 8, Iss 10 (2023)
Leber congenital amaurosis (LCA) is a group of inherited retinal diseases characterized by early-onset, rapid loss of photoreceptor cells. Despite the discovery of a growing number of genes associated with this disease, the molecular mechanisms of ph
Externí odkaz:
https://doaj.org/article/a2bc26897c2d4afd9e4c1af09072289e
Autor:
Emma Dyke, Chantal Bijnagte-Schoenmaker, Ka Man Wu, Astrid Oudakker, Ronald Roepman, Nael Nadif Kasri
Publikováno v:
Stem Cell Research, Vol 68, Iss , Pp 103053- (2023)
NPHP1 (Nephrocystin 1) is a protein that localizes to the transition zone of the cilium, a small organelle that projects from the plasma membrane of most cells and allows for integration and coordination of signalling pathways during development and
Externí odkaz:
https://doaj.org/article/1e5ffa250fcc4687a9f834cf17fa63ed
Autor:
Mariam G. Aslanyan, Cenna Doornbos, Gaurav D. Diwan, Zeinab Anvarian, Tina Beyer, Katrin Junger, Sylvia E. C. van Beersum, Robert B. Russell, Marius Ueffing, Alexander Ludwig, Karsten Boldt, Lotte B. Pedersen, Ronald Roepman
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Establishment and maintenance of the primary cilium as a signaling-competent organelle requires a high degree of fine tuning, which is at least in part achieved by a variety of post-translational modifications. One such modification is ubiquitination
Externí odkaz:
https://doaj.org/article/763fbe7f15ec459a96e34a2a65158816
Autor:
Siebren Faber, Ronald Roepman
Publikováno v:
PLoS Biology, Vol 20, Iss 6, p e3001672 (2022)
Being able to see the beauty of this world is a wonderful thing unfortunately unavailable to people with inherited blindness. In this issue of PLOS Biology, Mercey and colleagues present optimized expansion microscopy for retinal tissue, which repres
Externí odkaz:
https://doaj.org/article/ada90f46c124441799fef55f24d1d1ec
Autor:
Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
The mechanism by which adenosine monophosphate modulates dynein ATPase-mediated ciliary and flagellar beating remains obscure. Here the authors identify an axonemal module including cilia and flagella associated protein 45 that supports adenine nucle
Externí odkaz:
https://doaj.org/article/ab0a6ca10924497e88909fc70b971840
Autor:
Siebren Faber, Stef J. F. Letteboer, Katrin Junger, Rossano Butcher, Trinadh V. Satish Tammana, Sylvia E. C. van Beersum, Marius Ueffing, Rob W. J. Collin, Qin Liu, Karsten Boldt, Ronald Roepman
Publikováno v:
Cells, Vol 12, Iss 2, p 312 (2023)
Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane, causing the human ciliopathy Joubert Syndrome (JBTS22) and retinal degeneration in mice. In t
Externí odkaz:
https://doaj.org/article/12a6f3da617b4ffea1586043b075c872
Autor:
Liyanne F. M. van de Laarschot, René H. M. te Morsche, Alexander Hoischen, Hanka Venselaar, Hennie M. Roelofs, Wybrich R. Cnossen, Jesus M. Banales, Ronald Roepman, Joost P. H. Drenth
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Polycystic liver disease (PLD) is an inherited disorder characterized by numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD, respectively) have been linked to pathogenic GANAB vari
Externí odkaz:
https://doaj.org/article/c710959f5f25452a936f4f4f95599345
Autor:
Yongjun Xu, Xin Liu, Xin Cao, Changping Huang, Enke Liu, Sen Qian, Xingchen Liu, Yanjun Wu, Fengliang Dong, Cheng-Wei Qiu, Junjun Qiu, Keqin Hua, Wentao Su, Jian Wu, Huiyu Xu, Yong Han, Chenguang Fu, Zhigang Yin, Miao Liu, Ronald Roepman, Sabine Dietmann, Marko Virta, Fredrick Kengara, Ze Zhang, Lifu Zhang, Taolan Zhao, Ji Dai, Jialiang Yang, Liang Lan, Ming Luo, Zhaofeng Liu, Tao An, Bin Zhang, Xiao He, Shan Cong, Xiaohong Liu, Wei Zhang, James P. Lewis, James M. Tiedje, Qi Wang, Zhulin An, Fei Wang, Libo Zhang, Tao Huang, Chuan Lu, Zhipeng Cai, Fang Wang, Jiabao Zhang
Publikováno v:
The Innovation, Vol 2, Iss 4, Pp 100179- (2021)
Artificial intelligence (AI) coupled with promising machine learning (ML) techniques well known from computer science is broadly affecting many aspects of various fields including science and technology, industry, and even our day-to-day life. The ML
Externí odkaz:
https://doaj.org/article/f012a0d028854bffb505c4676fd1987e
Autor:
Kari-Anne M. Frikstad, Elisa Molinari, Marianne Thoresen, Simon A. Ramsbottom, Frances Hughes, Stef J.F. Letteboer, Sania Gilani, Kay O. Schink, Trond Stokke, Stefan Geimer, Lotte B. Pedersen, Rachel H. Giles, Anna Akhmanova, Ronald Roepman, John A. Sayer, Sebastian Patzke
Publikováno v:
Cell Reports, Vol 28, Iss 7, Pp 1907-1922.e6 (2019)
Summary: CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome, but their function in the etiology of ciliopathies is poorly understood. Here, we sh
Externí odkaz:
https://doaj.org/article/64cd3655c3764130ba8e0811b1fe5fe9