Roepman R - Search Results

1

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.

Cevik S, Sanders AA, Van Wijk E, Boldt K, Clarke L, van Reeuwijk J, Hori Y, Horn N, Hetterschijt L, Wdowicz A, Mullins A, Kida K, Kaplan OI, van Beersum SE, Man Wu K, Letteboer SJ, Mans DA, Katada T, Kontani K, Ueffing M, Roepman R, Kremer H, Blacque OE. Cevik S, et al. Among authors: roepman r. PLoS Genet. 2013;9(12):e1003977. doi: 10.1371/journal.pgen.1003977. Epub 2013 Dec 5. PLoS Genet. 2013. PMID: 24339792 Free PMC article.

2

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.

Whiting KR, Haer-Wigman L, Florijn RJ, van Beek R, Oud MM, Plomp AS, Boon CJF, Kroes HY, Roepman R. Whiting KR, et al. Among authors: roepman r. Eur J Hum Genet. 2024 Nov;32(11):1412-1418. doi: 10.1038/s41431-024-01627-6. Epub 2024 May 28. Eur J Hum Genet. 2024. PMID: 38806661 Free PMC article.

3

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP. Roepman R, et al. Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18520-5. doi: 10.1073/pnas.0505774102. Epub 2005 Dec 9. Proc Natl Acad Sci U S A. 2005. PMID: 16339905 Free PMC article.

4

Usher syndrome: molecular links of pathogenesis, proteins and pathways.

Kremer H, van Wijk E, Märker T, Wolfrum U, Roepman R. Kremer H, et al. Among authors: roepman r. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R262-70. doi: 10.1093/hmg/ddl205. Hum Mol Genet. 2006. PMID: 16987892 Review.

5

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. den Hollander AI, et al. Among authors: roepman r. Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546029

6

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R. Arts HH, et al. Among authors: roepman r. Nat Genet. 2007 Jul;39(7):882-8. doi: 10.1038/ng2069. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558407

7

MPP1 links the Usher protein network and the Crumbs protein complex in the retina.

Gosens I, van Wijk E, Kersten FF, Krieger E, van der Zwaag B, Märker T, Letteboer SJ, Dusseljee S, Peters T, Spierenburg HA, Punte IM, Wolfrum U, Cremers FP, Kremer H, Roepman R. Gosens I, et al. Among authors: roepman r. Hum Mol Genet. 2007 Aug 15;16(16):1993-2003. doi: 10.1093/hmg/ddm147. Epub 2007 Jun 21. Hum Mol Genet. 2007. PMID: 17584769

8

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.

Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H, Wolfrum U. Maerker T, et al. Among authors: roepman r. Hum Mol Genet. 2008 Jan 1;17(1):71-86. doi: 10.1093/hmg/ddm285. Epub 2007 Sep 28. Hum Mol Genet. 2008. PMID: 17906286

9

A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes.

Gloeckner CJ, Boldt K, Schumacher A, Roepman R, Ueffing M. Gloeckner CJ, et al. Among authors: roepman r. Proteomics. 2007 Dec;7(23):4228-34. doi: 10.1002/pmic.200700038. Proteomics. 2007. PMID: 17979178

10

Versatile screening for binary protein-protein interactions by yeast two-hybrid mating.

Letteboer SJ, Roepman R. Letteboer SJ, et al. Among authors: roepman r. Methods Mol Biol. 2008;484:145-59. doi: 10.1007/978-1-59745-398-1_10. Methods Mol Biol. 2008. PMID: 18592178

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