Associated Papers
An in vivo and in vitro spatiotemporal profile of human midbrain development.
Budinger D et al.
Nature Communications, 2026
Dopamine Transporter Deficiency Syndrome: A Rare Case of Infantile-Onset Dystonia-Parkinsonism.
Madduluri B et al.
Journal of Movement Disorders, 2025
Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches.
Ng J et al.
Cells, 2023
The dopamine transporter gene SLC6A3: multidisease risks.
Reith MEA et al.
Molecular Psychiatry, 2022
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
Ng J et al.
Science Translational Medicine, 2021
Tropane-Based Ibogaine Analog Rescues Folding-Deficient Serotonin and Dopamine Transporters.
Bhat S et al.
Acs Pharmacology & Translational Science, 2021
Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.
Heidari E et al.
Annals of Human Genetics, 2020
A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome.
Illiano P et al.
The European Journal of Neuroscience, 2017
The clinical syndrome of dystonia with anarthria/aphonia.
Ganos C et al.
Parkinsonism & Related Disorders, 2016
Genetic targeting of the amphetamine and methylphenidate-sensitive dopamine transporter: on the path to an animal model of attention-deficit hyperactivity disorder.
Mergy MA et al.
Neurochemistry International, 2014
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
The SLC6 transporters: perspectives on structure, functions, regulation, and models for transporter dysfunction.
Rudnick G et al.
Pflugers Archiv : European Journal of Physiology, 2014
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.
Kurian MA et al.
The Lancet. Neurology, 2011
Rare causes of dystonia parkinsonism.
Schneider SA et al.
Current Neurology and Neuroscience Reports, 2010
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
Kurian MA et al.
The Journal of Clinical Investigation, 2009
Infantile parkinsonism-dystonia: a dopamine "transportopathy".
Blackstone C
The Journal of Clinical Investigation, 2009
SLC6 transporters: structure, function, regulation, disease association and therapeutics.
Pramod AB et al.
Molecular Aspects of Medicine, 0