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Birthe Dorgau on Muck Rack

Birthe Dorgau

As seen in: Color Research & Application, Nature, BioRxiv
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Articles

Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids - Cell Death & Disease

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By Luis Ferrández-Peral, Birthe Dorgau
| Nature Verified
Abstract Stargardt disease is an inherited retinopathy affecting approximately 1:8000 individuals. It is characterised by biallelic variants in ABCA4 which encodes a vital protein for the recycling of retinaldehydes in the retina. Despite its prevalence and impact, there are currently no treatments available for this condition. Furthermore, 35% of STGD1 cases remain genetically unsolved.
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Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation - Cell Death & Disease

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By Birthe Dorgau, Ronald Roepman, Marina Moya-Molina
| Nature Verified
Abstract Alternative splicing (AS) is a crucial mechanism contributing to proteomic diversity, which is highly regulated in tissue- and development-specific patterns. Retinal tissue exhibits one of the highest levels of AS. In particular, photoreceptors have a distinctive AS pattern involving the inclusion of microexons not found in other cell types.
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PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects - Nature Communications

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By Katarzyna Szymanska, Yanlong Ji, Birthe Dorgau, Ross Laws, Chris F Inglehearn, Reinhard Lührmann, David Elliott, Henning Urlaub, Sina Mozaffari-Jovin, Marina Moya Molina, Avril Watson, Franziska Goertler
| Nature Verified
Abstract The carboxy-terminus of the spliceosomal protein PRPF8, which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity mechanism. We used patient induced pluripotent stem cells-derived cells, carrying the heterozygous PRPF8 c.6926 A > C (p.H2309P) mutation to demonstrate retinal-specific endophenotypes comprising photoreceptor loss, apical-basal polarity and ciliary defects.
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