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

Homozygous in‐frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family

(2020) Erfan Heidari et al.   ANNALS OF HUMAN GENETICS

Early-onset dopamine transporter deficiency syndrome: long-term follow-up

(2020) Margherita Baga et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Viral vector‐mediated Cre recombinase expression in substantia nigra induces lesions of the nigrostriatal pathway associated with perturbations of dopamine‐related behaviors and hallmarks of programmed cell death

(2019) Sara Rezai Amin et al.   JOURNAL OF NEUROCHEMISTRY

Magnetic Resonance Imaging–Guided Phase 1 Trial of Putaminal AADC Gene Therapy for Parkinson's Disease

(2019) Chadwick W. Christine et al.   ANNALS OF NEUROLOGY

Dopamine Secretion Is Mediated by Sparse Active Zone-like Release Sites

(2018) Changliang Liu et al.   CELL

PRONOUNCED HYPERACTIVITY, COGNITIVE DYSFUNCTIONS AND BDNF DYSREGULATION IN DOPAMINE TRANSPORTER KNOCKOUT RATS

(2018) Damiana Leo et al.   JOURNAL OF NEUROSCIENCE

Fetal gene therapy for neurodegenerative disease of infants

(2018) Giulia Massaro et al.   NATURE MEDICINE

Downregulation of miR-7116-5p in microglia by MPP+ sensitizes TNF-α production to induce dopaminergic neuron damage

(2017) Qian He et al.   GLIA

Pharmacochaperoning in aDrosophilamodel system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism

(2017) H. M. Mazhar Asjad et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles

(2017) Alice Kuster et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inhibition of neuronal mitochondrial complex I or lysosomal glucocerebrosidase is associated with increased dopamine and serotonin turnover

(2017) Carmen de la Fuente et al.   NEUROCHEMISTRY INTERNATIONAL

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

IAP-Based Cell Sorting Results in Homogeneous Transplantable Dopaminergic Precursor Cells Derived from Human Pluripotent Stem Cells

(2017) Daniela Lehnen et al.   Stem Cell Reports

Parkinson disease

(2017) Werner Poewe et al.   Nature Reviews Disease Primers

Recombinant Adeno-Associated Virus-mediated rescue of function in a mouse model of Dopamine Transporter Deficiency Syndrome

(2017) P. Illiano et al.   Scientific Reports

ACaenorhabditis elegansmodel to study dopamine transporter deficiency syndrome

(2016) Placido Illiano et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells

(2016) Pieter Beerepoot et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functional Rescue of a MisfoldedDrosophila melanogasterDopamine Transporter Mutant Associated with a Sleepless Phenotype by Pharmacological Chaperones

(2016) Ameya Kasture et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inflammatory Response in the CNS: Friend or Foe?

(2016) Marta Sochocka et al.   MOLECULAR NEUROBIOLOGY

Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment

(2016) Emine Pektas et al.   NEUROPEDIATRICS

How neuroinflammation contributes to neurodegeneration

(2016) R. M. Ransohoff   SCIENCE

Expression mediated by three partial sequences of the human tyrosine hydroxylase promoter in vivo

(2016) Anne-Sophie Rolland et al.   Molecular Therapy-Methods & Clinical Development

Increased expression of the dopamine transporter leads to loss of dopamine neurons, oxidative stress and l-DOPA reversible motor deficits

(2015) S.T. Masoud et al.   NEUROBIOLOGY OF DISEASE

The relation between α-synuclein and microglia in Parkinson’s disease: Recent developments

(2015) V. Sanchez-Guajardo et al.   NEUROSCIENCE

Epigenetic Biomarker to Support Classification into Pluripotent and Non-Pluripotent Cells

(2015) Michael Lenz et al.   Scientific Reports

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

(2014) Joanne Ng et al.   BRAIN

Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial

(2014) Marc Tardieu et al.   HUMAN GENE THERAPY

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD

(2014) Freja H. Hansen et al.   JOURNAL OF CLINICAL INVESTIGATION

Long-term safety and tolerability of ProSavin, a lentiviral vector-based gene therapy for Parkinson's disease: a dose escalation, open-label, phase 1/2 trial

(2014) Stéphane Palfi et al.   LANCET

Biology of adeno-associated viral vectors in the central nervous system

(2014) Giridhar Murlidharan et al.   Frontiers in Molecular Neuroscience

Intracerebroventricular Viral Injection of the Neonatal Mouse Brain for Persistent and Widespread Neuronal Transduction

(2014) Ji-Yoen Kim et al.   Jove-Journal of Visualized Experiments

Safety and tolerability of MRI-guided infusion of AAV2-hAADC into the mid-brain of nonhuman primate

(2014) Waldy San Sebastian et al.   Molecular Therapy-Methods & Clinical Development

Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency

(2012) W.-L. Hwu et al.   Science Translational Medicine

Generation of Regionally Specified Neural Progenitors and Functional Neurons from Human Embryonic Stem Cells under Defined Conditions

(2012) Agnete Kirkeby et al.   Cell Reports

Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system

(2011) Ahad A. Rahim et al.   FASEB JOURNAL

Quantification of lentiviral vector copy numbers in individual hematopoietic colony-forming cells shows vector dose-dependent effects on the frequency and level of transduction

(2010) S Charrier et al.   GENE THERAPY

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

(2010) Manju A Kurian et al.   LANCET NEUROLOGY

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

(2009) Manju A. Kurian et al.   JOURNAL OF CLINICAL INVESTIGATION

Unregulated Cytosolic Dopamine Causes Neurodegeneration Associated with Oxidative Stress in Mice

(2008) L. Chen et al.   JOURNAL OF NEUROSCIENCE