A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease-Reference-Cited by-同舟云学术

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease

Published:2020-09-09 Issue:560 Volume:12 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Boussaad Ibrahim¹^ORCID,Obermaier Carolin D.¹²^ORCID,Hanss Zoé¹^ORCID,Bobbili Dheeraj R.¹,Bolognin Silvia¹^ORCID,Glaab Enrico¹^ORCID,Wołyńska Katarzyna³^ORCID,Weisschuh Nicole⁴,De Conti Laura⁵^ORCID,May Caroline⁶^ORCID,Giesert Florian⁷⁸⁹^ORCID,Grossmann Dajana¹,Lambert Annika¹^ORCID,Kirchen Susanne¹^ORCID,Biryukov Maria¹,Burbulla Lena F.¹⁰^ORCID,Massart Francois¹^ORCID,Bohler Jill¹,Cruciani Gérald¹,Schmid Benjamin²^ORCID,Kurz-Drexler Annerose⁷^ORCID,May Patrick¹^ORCID,Duga Stefano¹¹¹²^ORCID,Klein Christine¹³,Schwamborn Jens C.¹^ORCID,Marcus Katrin⁶^ORCID,Woitalla Dirk¹⁴,Vogt Weisenhorn Daniela M.⁷⁹^ORCID,Wurst Wolfgang⁷⁸⁹¹⁵^ORCID,Baralle Marco⁵^ORCID,Krainc Dimitri¹⁰^ORCID,Gasser Thomas²¹⁶^ORCID,Wissinger Bernd⁴^ORCID,Krüger Rejko¹²¹⁷¹⁸^ORCID

Affiliation:

1. LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.

2. Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.

3. Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.

4. Molecular Genetics Laboratory, Institute for Ophthalmic Research, University Clinics Tübingen, 72076 Tübingen, Germany.

5. ICGEB—International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34149 Trieste, Italy.

6. Medizinisches Proteom-Center, Ruhr-University Bochum, 44801 Bochum, Germany.

7. Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764 Neuherberg, Germany.

8. German Center for Neurodegenerative Diseases (DZNE), Site Munich, Feodor-Lynen-Str. 17, 81377 Munich, Germany.

9. Technische Universität München-Weihenstephan, Developmental Genetics, c/o Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.

10. Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.

11. Department of Biomedical Sciences, Humanitas University, Via Manzoni 113, 20089 Rozzano, Milan, Italy.

12. Humanitas Clinical and Research center, IRCCS, Via Manzoni 56, 20089 Rozzano, Milan, Italy.

13. Institute of Neurogenetics, University of Luebeck, 23562 Luebeck, Germany.

14. Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.

15. Munich Cluster for Systems Neurology (SyNergy), Feodor-Lynen-Str. 17, 81377 Munich, Germany.

16. German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.

17. Department of Neurology and Parkinson Research Clinic, Centre Hospitalier de Luxembourg (CHL), 1210 Luxembourg, Luxembourg.

18. Transversal Translational Medicine, Luxembourg Institute of Health (LIH), 1445 Strassen, Luxembourg.

Abstract

The genetic and pharmacological rescue of pathogenic U1-dependent exon skipping in c.192G>C PARK7 restores PD-associated cellular abnormalities in vitro.

Funder

Deutsche Forschungsgemeinschaft

Fonds National de la Recherche Luxembourg

Horizon 2020

European Union Joint Program - Neurodegenerative Diseases

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference79 articles.

1. The two-century journey of Parkinson disease research

2. Biomarker‐driven phenotyping in Parkinson's disease: A translational missing link in disease‐modifying clinical trials