Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.

Animals Disease Models, Animal Dopamine Plasma Membrane Transport Proteins / genetics Genetic Therapy Humans Induced Pluripotent Stem Cells / metabolism Mice Parkinsonian Disorders / genetics Substantia Nigra / metabolism

Journal

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

Informations de publication

Date de publication:
19 05 2021
Historique:
received: 07 12 2018
revised: 20 08 2020
accepted: 20 02 2021
entrez: 20 5 2021
pubmed: 21 5 2021
medline: 13 7 2021
Statut: ppublish

Résumé

Most inherited neurodegenerative disorders are incurable, and often only palliative treatment is available. Precision medicine has great potential to address this unmet clinical need. We explored this paradigm in dopamine transporter deficiency syndrome (DTDS), caused by biallelic loss-of-function mutations in

Identifiants

DOI: 10.1126/scitranslmed.aaw1564 PMID: 34011628 PMC: PMC7612279
pubmed: 34011628
pii: 13/594/eaaw1564
doi: 10.1126/scitranslmed.aaw1564
pmc: PMC7612279
mid: EMS130859
pii:
doi:

Substances chimiques

Dopamine Plasma Membrane Transport Proteins 0
SLC6A3 protein, human 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Medical Research Council
ID : MR/R015325/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0900747 91070
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/V03801X/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S036784/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 210774/Z/18/Z
Pays : United Kingdom
Organisme : Austrian Science Fund FWF
ID : P 31255
Pays : Austria
Organisme : Wellcome Trust
ID : 21077/Z/18/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/R025134/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N026101/1
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_EX_MR/N50192X/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S011005/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/P026494/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT098524MA
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T008024/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 204841/Z/16/Z
Pays : United Kingdom
Organisme : Versus Arthritis
ID : 21552
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/K02342X/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_16063
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M024962/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 098524
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N019075/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L023784/2
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T044853/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/R025134/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S009434/1
Pays : United Kingdom

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

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Auteurs

Joanne Ng (J)

Gene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.
Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.
ORCID: 0000-0002-7946-9965

Serena Barral (S)

Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK. s.waddington@ucl.ac.uk s.barral@ucl.ac.uk.
ORCID: 0000-0002-1430-3614

Carmen De La Fuente Barrigon (C)

Genetics and Genomic Medicine, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.

Gabriele Lignani (G)

Clinical and Experimental Epilepsy, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.

Fatma A Erdem (FA)

Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.
Institute of Pharmacology and Gaston H. Glock Laboratories for Exploratory Drug Research, Centre of Physiology and Pharmacology, Medical University of Vienna, 1090 Vienna, Austria.
ORCID: 0000-0003-1381-5009

Rebecca Wallings (R)

Oxford Parkinson's Disease Centre, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, OX1 3PT, UK.
ORCID: 0000-0003-0947-4459

Riccardo Privolizzi (R)

Gene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.
Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.
ORCID: 0000-0001-5699-9587

Giada Rossignoli (G)

Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.

Haya Alrashidi (H)

Genetics and Genomic Medicine, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.
ORCID: 0000-0001-9338-3036

Sonja Heasman (S)

Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.
ORCID: 0000-0003-1350-6265

Esther Meyer (E)

Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.

Adeline Ngoh (A)

Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.
ORCID: 0000-0002-0153-8545

Simon Pope (S)

Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
ORCID: 0000-0002-2991-3722

Rajvinder Karda (R)

Gene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.
ORCID: 0000-0001-9821-483X

Dany Perocheau (D)

Gene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.
ORCID: 0000-0001-5450-8801

Julien Baruteau (J)

Gene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.
Genetics and Genomic Medicine, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.
ORCID: 0000-0003-0582-540X

Natalie Suff (N)

Gene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.
Department of Women and Children's Health, King's College London, London, WC2R 2LS, UK.
ORCID: 0000-0002-0736-7046

Juan Antinao Diaz (J)

Gene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.
ORCID: 0000-0001-7295-2738

Stephanie Schorge (S)

Clinical and Experimental Epilepsy, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.
Pharmacology, School of Pharmacy, University College London, London, WC1N 1AX, UK.
ORCID: 0000-0003-1541-5148

Jane Vowles (J)

James Martin Stem Cell Facility, Sir William Dunn School of Pathology, University of Oxford, Oxford, OX1 3RE, UK.
ORCID: 0000-0002-7000-1581

Lucy R Marshall (LR)

Infection, Immunity, Inflammation, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.

Sally A Cowley (SA)

James Martin Stem Cell Facility, Sir William Dunn School of Pathology, University of Oxford, Oxford, OX1 3RE, UK.
ORCID: 0000-0003-0297-6675

Sonja Sucic (S)

Institute of Pharmacology and Gaston H. Glock Laboratories for Exploratory Drug Research, Centre of Physiology and Pharmacology, Medical University of Vienna, 1090 Vienna, Austria.
ORCID: 0000-0001-5136-8022

Michael Freissmuth (M)

Institute of Pharmacology and Gaston H. Glock Laboratories for Exploratory Drug Research, Centre of Physiology and Pharmacology, Medical University of Vienna, 1090 Vienna, Austria.

John R Counsell (JR)

Developmental Neurosciences, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.
ORCID: 0000-0001-9208-101X

Richard Wade-Martins (R)

Oxford Parkinson's Disease Centre, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, OX1 3PT, UK.
ORCID: 0000-0001-6691-580X

Simon J R Heales (SJR)

Genetics and Genomic Medicine, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.
Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

Ahad A Rahim (AA)

Pharmacology, School of Pharmacy, University College London, London, WC1N 1AX, UK.
ORCID: 0000-0003-0044-0949

Maximilien Bencze (M)

Developmental Neurosciences, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.
University Paris Est Creteil, INSERM, IMRB, 94000 Creteil, France.
ORCID: 0000-0002-3088-4818

Simon N Waddington (SN)

Gene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK. s.waddington@ucl.ac.uk s.barral@ucl.ac.uk.
Wits/SAMRC Antiviral Gene Therapy Research Unit, Faculty of Health Sciences, University of the Witwatersrand, 2193 Johannesburg, South Africa.
ORCID: 0000-0003-4970-4730

Manju A Kurian (MA)

Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.
Department of Neurology, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Gene therapy restores dopamine transporter...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Gene therapy restores dopamine transporter...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Protéines transporteurs de solutés › Transporteurs de la dopamine › Gene therapy restores dopamine transporter...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Génie génétique › Thérapie génétique › Gene therapy restores dopamine transporter...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Gene therapy restores dopamine transporter...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › Gene therapy restores dopamine transporter...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Gene therapy restores dopamine transporter...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Troubles de la motricité › Syndromes parkinsoniens › Gene therapy restores dopamine transporter...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Tronc cérébral › Mésencéphale › Pédoncule cérébral › Substantia nigra › Gene therapy restores dopamine transporter...