Article
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.
Science translational medicine - 9 Sept 2020
Boussaad Ibrahim, Obermaier Carolin D, Hanss Zoé, Bobbili Dheeraj R, Bolognin Silvia, Glaab Enrico, Wołyńska Katarzyna, Weisschuh Nicole, De Conti Laura, May Caroline, Giesert Florian, Grossmann Dajana, Lambert Annika, Kirchen Susanne, Biryukov Maria, Burbulla Lena F, Massart Francois, Bohler Jill, Cruciani Gérald, Schmid Benjamin, Kurz-Drexler Annerose, May Patrick, Duga Stefano, Klein Christine, Schwamborn Jens C, Marcus Katrin, Woitalla Dirk, Vogt Weisenhorn Daniela M, Wurst Wolfgang, Baralle Marco, Krainc Dimitri, Gasser Thomas, Wissinger Bernd, Krüger Rejko
Abstract excerpt
Parkinson's disease (PD) is a heterogeneous neurodegenerative disorder with monogenic forms representing prototypes of the underlying molecular pathology and reproducing to variable degrees the sporadic forms of the disease. Using a patient-based in vitro model of PARK7-linked PD, we identified a U1-dependent splicing defect causing a drastic reduction in DJ-1 protein and, consequently, mitochondrial dysfunction....
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