ArticleScience translational medicine2021
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
Open access · greenAbstract read
In one paragraph
Article in Science translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed
4.9field-weighted citation impact, top 4% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 54 citations in OpenAlex.
- Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments.Movement disorders clinical practice · 2026Review
- Neuroprotective Effects of Lycopene in Parkinson's Disease Mice: Potential Modulation of DAT/SLC6A3-Mediated Dopaminergic Pathway.Nutrients · 2026Article
- Mouse model of atypical DAT deficiency syndrome uncovers dopamine dysfunction associated with parkinsonism and ADHD.The Journal of clinical investigation · 2026Article
- Clathrin-mediated endocytosis as an axis for the etiopathogenesis of Parkinson's disease.Journal of cell science · 2026Review
- Alpha-methyl-para-tyrosine and amphetamine ameliorate hyperactivity in a novel mouse model of dopamine transporter deficiency syndrome.EMBO molecular medicine · 2026Article
- D-ribose-L-cysteine and lauric acid co-treatment confers multi-pathway neuroprotection in an alpha-synuclein transgenic Drosophila model of Parkinson's disease.Metabolic brain disease · 2026Article
- An in vivo and in vitro spatiotemporal profile of human midbrain development.Nature communications · 2026Article
- Genetic therapies for neurological diseases.Pharmacological reviews · 2026Review
- Identification of Hub Genes and Prediction of Interacting Chemicals in Parkinson's Disease Using Bioinformatics.Current medicinal chemistry · 2026Article
- An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics.iScience · 2025Article
- Recent developments in gene therapy for Parkinson's disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Review
- A comparative exploration of monoamine neurotransmitter transport disorders: mechanisms, clinical manifestations, and therapeutic approaches.Journal of medicine and life · 2025Review
- Genetic therapies for movement disorders - current status.Journal of neurology · 2025Review
- Gene Therapy for Parkinson's Disease Using Midbrain Developmental Genes to Regulate Dopaminergic Neuronal Maintenance.International journal of molecular sciences · 2024Review
- Repetitive transcranial magnetic stimulation alleviates motor impairment in Parkinson's disease: association with peripheral inflammatory regulatory T-cells and SYT6.Molecular neurodegeneration · 2024Article
- Dopamine synthesis and transport: current and novel therapeutics for parkinsonisms.Biochemical Society transactions · 2024Review
- Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.bioRxiv : the preprint server for biology · 2024Article
- Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.Brain : a journal of neurology · 2024Article
- Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.Journal of inherited metabolic disease · 2024Review
Corrections and comments
- Commented on by
Authors and funding
31 authors at 11 institutions in 6 countries.
Joanne NgGene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.ORCID 0000-0002-7946-9965
Serena BarralDevelopmental 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 BarrigonGenetics and Genomic Medicine, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.
Gabriele LignaniClinical and Experimental Epilepsy, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.
Fatma A ErdemDevelopmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.ORCID 0000-0003-1381-5009
Rebecca WallingsOxford Parkinson's Disease Centre, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, OX1 3PT, UK.ORCID 0000-0003-0947-4459
Riccardo PrivolizziGene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.ORCID 0000-0001-5699-9587
Giada RossignoliDevelopmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.
Haya AlrashidiGenetics and Genomic Medicine, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.ORCID 0000-0001-9338-3036
Sonja HeasmanDevelopmental 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 MeyerDevelopmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.
Adeline NgohDevelopmental 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 PopeNeurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.ORCID 0000-0002-2991-3722
Rajvinder KardaGene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.ORCID 0000-0001-9821-483X
Dany PerocheauGene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.ORCID 0000-0001-5450-8801
Julien BaruteauGene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.ORCID 0000-0003-0582-540X
Natalie SuffGene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.ORCID 0000-0002-0736-7046
Juan Antinao DiazGene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.ORCID 0000-0001-7295-2738
Stephanie SchorgeClinical and Experimental Epilepsy, Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.ORCID 0000-0003-1541-5148
Jane VowlesJames Martin Stem Cell Facility, Sir William Dunn School of Pathology, University of Oxford, Oxford, OX1 3RE, UK.ORCID 0000-0002-7000-1581
Lucy R MarshallInfection, Immunity, Inflammation, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.
Sally A CowleyJames Martin Stem Cell Facility, Sir William Dunn School of Pathology, University of Oxford, Oxford, OX1 3RE, UK.ORCID 0000-0003-0297-6675
Sonja SucicInstitute 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 FreissmuthInstitute 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 CounsellDevelopmental Neurosciences, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.ORCID 0000-0001-9208-101X
Richard Wade-MartinsOxford 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 HealesGenetics and Genomic Medicine, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.
Ahad A RahimPharmacology, School of Pharmacy, University College London, London, WC1N 1AX, UK.ORCID 0000-0003-0044-0949
Maximilien BenczeDevelopmental Neurosciences, GOS-Institute of Child Health, University College London, London, WC1N 1EH, UK.ORCID 0000-0002-3088-4818
Simon N WaddingtonGene 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.ORCID 0000-0003-4970-4730
Manju A KurianDevelopmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, GOS-Institute of Child Health, University College London, London, WC1N 1DZ, UK.
Institute of Child Health · INUniversity College London · GBUniversity of Oxford · GBEpilepsy Research UK · GBMedical University of Vienna · ATGreat Ormond Street Hospital · GBInserm · FRInstitute of Infection and Immunity · CAKing's College London · GBNational Hospital for Neurology and Neurosurgery · GBUniversity of the Witwatersrand · ZA
Funding
Austrian Science Fund FWF P 31255Medical Research Council G0900747 91070Medical Research Council MC_EX_MR/N50192X/1Medical Research Council MC_PC_16063Medical Research Council MR/K02342X/1Medical Research Council MR/L023784/2Medical Research Council MR/M024962/1Medical Research Council MR/N019075/1Medical Research Council MR/N026101/1Medical Research Council MR/N029453/1Medical Research Council MR/P026494/1Medical Research Council MR/R015325/1Medical Research Council MR/R025134/1Medical Research Council MR/S009434/1Medical Research Council MR/S011005/1Medical Research Council MR/S036784/1Medical Research Council MR/T008024/1Medical Research Council MR/T044853/1Medical Research Council MR/V03801X/1Versus Arthritis 21552Wellcome Trust 098524Wellcome Trust 204841/Z/16/ZWellcome Trust 210774/Z/18/ZWellcome Trust 21077/Z/18/ZWellcome Trust WT098524MA
Abstract
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
Indexed as
Genetic TherapyInduced Pluripotent Stem CellsParkinsonian DisordersAnimalsDisease Models, AnimalDopamine Plasma Membrane Transport ProteinsHumansMiceSubstantia NigraDopamine Plasma Membrane Transport ProteinsSLC6A3 protein, human
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.