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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
Boldt K, Mans DA, Won J, van Reeuwijk J, Vogt A, Kinkl N, Letteboer SJ, Hicks WL, Hurd RE, Naggert JK, Texier Y, den Hollander AI, Koenekoop RK, Bennett J, Cremers FP, Gloeckner CJ, Nishina PM, Roepman R, Ueffing M. Boldt K, et al. Among authors: roepman r. J Clin Invest. 2011 Jun;121(6):2169-80. doi: 10.1172/JCI45627. Epub 2011 May 23. J Clin Invest. 2011. PMID: 21606596 Free PMC article.
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Corral-Serrano JC, Lamers IJC, van Reeuwijk J, Duijkers L, Hoogendoorn ADM, Yildirim A, Argyrou N, Ruigrok RAA, Letteboer SJF, Butcher R, van Essen MD, Sakami S, van Beersum SEC, Palczewski K, Cheetham ME, Liu Q, Boldt K, Wolfrum U, Ueffing M, Garanto A, Roepman R, Collin RWJ. Corral-Serrano JC, et al. Among authors: roepman r. Proc Natl Acad Sci U S A. 2020 May 5;117(18):9922-9931. doi: 10.1073/pnas.1903125117. Epub 2020 Apr 20. Proc Natl Acad Sci U S A. 2020. PMID: 32312818 Free PMC article.
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
A look into retinal organoids: methods, analytical techniques, and applications.
Afanasyeva TAV, Corral-Serrano JC, Garanto A, Roepman R, Cheetham ME, Collin RWJ. Afanasyeva TAV, et al. Among authors: roepman r. Cell Mol Life Sci. 2021 Oct;78(19-20):6505-6532. doi: 10.1007/s00018-021-03917-4. Epub 2021 Aug 22. Cell Mol Life Sci. 2021. PMID: 34420069 Free PMC article. Review.
125 results