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

Dopaminergic Neurons Exons / genetics Humans Mutation / genetics Parkinson Disease / drug therapy RNA Splicing

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
09 09 2020
Historique:
received: 06 06 2018
revised: 24 01 2020
accepted: 22 06 2020
entrez: 10 9 2020
pubmed: 11 9 2020
medline: 24 6 2021
Statut: ppublish

Résumé

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

Identifiants

DOI: 10.1126/scitranslmed.aau3960 PMID: 32908004
pubmed: 32908004
pii: 12/560/eaau3960
doi: 10.1126/scitranslmed.aau3960
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

Auteurs

Ibrahim Boussaad (I)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.
ORCID: 0000-0002-3512-3364

Carolin D Obermaier (CD)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.
Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
ORCID: 0000-0001-6653-8215

Zoé Hanss (Z)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.
ORCID: 0000-0002-3659-3624

Dheeraj R Bobbili (DR)

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

Silvia Bolognin (S)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.
ORCID: 0000-0002-1399-2999

Enrico Glaab (E)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.
ORCID: 0000-0003-3977-7469

Katarzyna Wołyńska (K)

Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.
ORCID: 0000-0002-8377-8496

Nicole Weisschuh (N)

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

Laura De Conti (L)

ICGEB-International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34149 Trieste, Italy.
ORCID: 0000-0003-4391-3638

Caroline May (C)

Medizinisches Proteom-Center, Ruhr-University Bochum, 44801 Bochum, Germany.
ORCID: 0000-0002-6532-5979

Florian Giesert (F)

Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764 Neuherberg, Germany.
German Center for Neurodegenerative Diseases (DZNE), Site Munich, Feodor-Lynen-Str. 17, 81377 Munich, Germany.
Technische Universität München-Weihenstephan, Developmental Genetics, c/o Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
ORCID: 0000-0001-6825-8858

Dajana Grossmann (D)

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

Annika Lambert (A)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.
ORCID: 0000-0003-4503-4266

Susanne Kirchen (S)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.
ORCID: 0000-0003-0211-1815

Maria Biryukov (M)

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

Lena F Burbulla (LF)

Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
ORCID: 0000-0002-6548-905X

Francois Massart (F)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.
ORCID: 0000-0001-5590-3344

Jill Bohler (J)

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

Gérald Cruciani (G)

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

Benjamin Schmid (B)

Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
ORCID: 0000-0002-0028-888X

Annerose Kurz-Drexler (A)

Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764 Neuherberg, Germany.
ORCID: 0000-0001-9108-6994

Patrick May (P)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.
ORCID: 0000-0001-8698-3770

Stefano Duga (S)

Department of Biomedical Sciences, Humanitas University, Via Manzoni 113, 20089 Rozzano, Milan, Italy.
Humanitas Clinical and Research center, IRCCS, Via Manzoni 56, 20089 Rozzano, Milan, Italy.
ORCID: 0000-0003-3457-1410

Christine Klein (C)

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

Jens C Schwamborn (JC)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg.
ORCID: 0000-0003-4496-0559

Katrin Marcus (K)

Medizinisches Proteom-Center, Ruhr-University Bochum, 44801 Bochum, Germany.
ORCID: 0000-0002-3313-8845

Dirk Woitalla (D)

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

Daniela M Vogt Weisenhorn (DM)

Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764 Neuherberg, Germany.
Technische Universität München-Weihenstephan, Developmental Genetics, c/o Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
ORCID: 0000-0002-4566-6506

Wolfgang Wurst (W)

Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764 Neuherberg, Germany.
German Center for Neurodegenerative Diseases (DZNE), Site Munich, Feodor-Lynen-Str. 17, 81377 Munich, Germany.
Technische Universität München-Weihenstephan, Developmental Genetics, c/o Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
Munich Cluster for Systems Neurology (SyNergy), Feodor-Lynen-Str. 17, 81377 Munich, Germany.
ORCID: 0000-0003-4422-7410

Marco Baralle (M)

ICGEB-International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34149 Trieste, Italy.
ORCID: 0000-0002-0417-1013

Dimitri Krainc (D)

Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
ORCID: 0000-0002-4716-1886

Thomas Gasser (T)

Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
ORCID: 0000-0002-1069-1146

Bernd Wissinger (B)

Molecular Genetics Laboratory, Institute for Ophthalmic Research, University Clinics Tübingen, 72076 Tübingen, Germany.
ORCID: 0000-0001-8964-5953

Rejko Krüger (R)

LCSB, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4362 Esch-Sur-Alzette, Luxembourg. rejko.krueger@uni.lu.
Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
Department of Neurology and Parkinson Research Clinic, Centre Hospitalier de Luxembourg (CHL), 1210 Luxembourg, Luxembourg.
Transversal Translational Medicine, Luxembourg Institute of Health (LIH), 1445 Strassen, Luxembourg.
ORCID: 0000-0003-4258-6241

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Classifications MeSH

questionsmedicales.fr › Cellules › Neurones › Neurones dopaminergiques › A patient-based model of RNA mis-splicing...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › A patient-based model of RNA mis-splicing...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A patient-based model of RNA mis-splicing...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A patient-based model of RNA mis-splicing...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Maladie de Parkinson › A patient-based model of RNA mis-splicing...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Maturation post-transcriptionnelle des ARN › Épissage des ARN › A patient-based model of RNA mis-splicing...