Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Autor: Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)

Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The hearing loss can be partly compensated by providing patients with hearing aids or cochlear implants, but the loss of vision is currently untreatable. In general, mut

Externí odkaz: https://doaj.org/article/630403874b684cdf82cd8b7633db40fd

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.

Autor: Alejandro Garanto, Sylvia E C van Beersum, Theo A Peters, Ronald Roepman, Frans P M Cremers, Rob W J Collin

Publikováno v: PLoS ONE, Vol 8, Iss 11, p e79369 (2013)

Leber congenital amaurosis (LCA) is the most severe form of retinal dystrophy with an onset in the first year of life. The most frequent genetic cause of LCA, accounting for up to 15% of all LCA cases in Europe and North-America, is a mutation (c.299

Externí odkaz: https://doaj.org/article/8d6cf74a58e940fb9c1a9318b100e144

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa

Autor: Theo A. Peters, Erik de Vrieze, Pam Graave, Sanne Broekman, Renske Schellens, Erwin van Wijk, Kerstin Nagel-Wolfrum, Rob W.J. Collin, Hannie Kremer

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 17
International Journal of Molecular Sciences, 22
International Journal of Molecular Sciences, 22, 17
International Journal of Molecular Sciences, Vol 22, Iss 9154, p 9154 (2021)

Retinitis pigmentosa (RP) is an inherited retinal disease (IRD) with an overall prevalence of 1 in 4000 individuals. Mutations in EYS (Eyes shut homolog) are among the most frequent causes of non-syndromic autosomal recessively inherited RP and act v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39fcd9267709f17e4d3b2fb34ef928c7
https://doi.org/10.3390/ijms22179154

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A > G Mutation in USH2A

Autor: Ralph Slijkerman, Theo A. Peters, Milou Gerits, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Hannie Kremer, Lisette Hetterschijt, Alexander Goloborodko

Publikováno v: Zebrafish, 15, 6, pp. 597-609
Zebrafish, 15, 597-609

The frequent deep-intronic c.7595-2144AG mutation in intron 40 of USH2A generates a high-quality splice donor site, resulting in the incorporation of a pseudoexon (PE40) into the mature transcript that is predicted to prematurely terminate usherin tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee16f2116e53d49a1935a1955965ccbb
https://hdl.handle.net/2066/196655

C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish

Autor: Leonie M. Kamminga, Theo A. Peters, Rob W.J. Collin, Erwin van Wijk, Muriël Messchaert, Julio C. Corral-Serrano, Margo Dona

Publikováno v: Scientific Reports, 8
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Scientific Reports

Mutations in C2orf71 are causative for autosomal recessive retinitis pigmentosa and occasionally cone-rod dystrophy. We have recently discovered that the protein encoded by this gene is important for modulation of the ciliary membrane through the rec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e0c1673ba8bea0f373f9ea0e0fff84d
https://hdl.handle.net/2066/193330