Associated Papers
Multicolor Quantum Dot Tracking Uncovers Phenotypic Rescue of DAT A559V Aberrant Diffusion Upon D2R Antagonism.
Torres R et al.
Acs Chemical Neuroscience, 2026
Alpha-methyl-para-tyrosine and amphetamine ameliorate hyperactivity in a novel mouse model of dopamine transporter deficiency syndrome.
Russo EE et al.
Embo Molecular Medicine, 2026
Kappa opioid receptor antagonism restores phosphorylation, trafficking and behavior induced by a disease-associated dopamine transporter variant.
Mayer FP et al.
Molecular Psychiatry, 2025
The Ins and Outs of Dopamine Transporter Gene Manipulation: In Vivo Models of DAT Dysfunction.
Stewart A et al.
Advances in Neurobiology, 2025
Kappa Opioid Receptor Antagonism Restores Phosphorylation, Trafficking and Behavior induced by a Disease Associated Dopamine Transporter Variant.
Mayer FP et al.
Biorxiv : the Preprint Server for Biology, 2024
Mouse models for inherited monoamine neurotransmitter disorders.
Thöny B et al.
Journal of Inherited Metabolic Disease, 2024
Leaky lessons learned: Efflux prone dopamine transporter variant reveals sex and circuit specific contributions of D2 receptor signalling to neuropsychiatric disease.
Mayer FP et al.
Basic & Clinical Pharmacology & Toxicology, 2024
Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population.
Qiu S et al.
Bmc Psychiatry, 2023
Retinal electrophysiology in central nervous system disorders. A review of human and mouse studies.
Constable PA et al.
Frontiers in Neuroscience, 2023
Dopamine transporter membrane mobility is bidirectionally regulated by phosphorylation and palmitoylation.
Shetty M et al.
Current Research in Physiology, 2023
Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.
Kim IB et al.
Molecular Psychiatry, 2022
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
The dopamine transporter gene SLC6A3: multidisease risks.
Reith MEA et al.
Molecular Psychiatry, 2022
Modeling dopamine dysfunction in autism spectrum disorder: From invertebrates to vertebrates.
DiCarlo GE et al.
Neuroscience and Biobehavioral Reviews, 2022
Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca2+ pump responsible for Darier's disease, causes behavioral abnormalities and a hyper-dopaminergic state.
Nakajima K et al.
Human Molecular Genetics, 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
Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.
Aguilar JI et al.
Elife, 2021
Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.
Mu W et al.
Bmj Case Reports, 2019
Autism-linked dopamine transporter mutation alters striatal dopamine neurotransmission and dopamine-dependent behaviors.
DiCarlo GE et al.
The Journal of Clinical Investigation, 2019
Single Quantum Dot Imaging Reveals PKCβ-Dependent Alterations in Membrane Diffusion and Clustering of an Attention-Deficit Hyperactivity Disorder/Autism/Bipolar Disorder-Associated Dopamine Transporter Variant.
Thal LB et al.
Acs Chemical Neuroscience, 2019
Region-Specific Regulation of Presynaptic Dopamine Homeostasis by D2 Autoreceptors Shapes the In Vivo Impact of the Neuropsychiatric Disease-Associated DAT Variant Val559.
Gowrishankar R et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018
Neuropsychiatric disease-associated genetic variants of the dopamine transporter display heterogeneous molecular phenotypes.
Herborg F et al.
The Journal of Biological Chemistry, 2018
Functional coding variation in the presynaptic dopamine transporter associated with neuropsychiatric disorders drives enhanced motivation and context-dependent impulsivity in mice.
Davis GL et al.
Behavioural Brain Research, 2018
Is dopamine transporter-mediated dopaminergic signaling in the retina a noninvasive biomarker for attention-deficit/ hyperactivity disorder? A study in a novel dopamine transporter variant Val559 transgenic mouse model.
Dai H et al.
Journal of Neurodevelopmental Disorders, 2017
Rare autism-associated variants implicate syntaxin 1 (STX1 R26Q) phosphorylation and the dopamine transporter (hDAT R51W) in dopamine neurotransmission and behaviors.
Cartier E et al.
Ebiomedicine, 2015
The rare DAT coding variant Val559 perturbs DA neuron function, changes behavior, and alters in vivo responses to psychostimulants.
Mergy MA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking.
Bowton E et al.
Translational Psychiatry, 2014
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
An N-terminal threonine mutation produces an efflux-favorable, sodium-primed conformation of the human dopamine transporter.
Fraser R et al.
Molecular Pharmacology, 2014
Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.
Hansen FH et al.
The Journal of Clinical Investigation, 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
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder.
Hamilton PJ et al.
Molecular Psychiatry, 2013
Attention deficit/hyperactivity disorder-derived coding variation in the dopamine transporter disrupts microdomain targeting and trafficking regulation.
Sakrikar D et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012
Dysregulation of dopamine transporters via dopamine D2 autoreceptors triggers anomalous dopamine efflux associated with attention-deficit hyperactivity disorder.
Bowton E et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010
Association between dopaminergic genes (SLC6A3 and DRD2) and stuttering among Han Chinese.
Lan J et al.
Journal of Human Genetics, 2009
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
Anomalous dopamine release associated with a human dopamine transporter coding variant.
Mazei-Robison MS et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008
Association and linkage of allelic variants of the dopamine transporter gene in ADHD.
Friedel S et al.
Molecular Psychiatry, 2007
Human genetics and pharmacology of neurotransmitter transporters.
Lin Z et al.
Handbook of Experimental Pharmacology, 2006
ADHD and the dopamine transporter: are there reasons to pay attention?
Mazei-Robinson MS et al.
Handbook of Experimental Pharmacology, 2006
A dopamine transporter mutation associated with bipolar affective disorder causes inhibition of transporter cell surface expression.
Horschitz S et al.
Molecular Psychiatry, 2005
Sequence variation in the human dopamine transporter gene in children with attention deficit hyperactivity disorder.
Mazei-Robison MS et al.
Neuropharmacology, 2005
Expression studies of naturally occurring human dopamine transporter variants identifies a novel state of transporter inactivation associated with Val382Ala.
Mazei-Robison MS et al.
Neuropharmacology, 2005
Association study of dopamine transporter gene and schizophrenia in Korean population using multiple single nucleotide polymorphism markers.
Jeong SH et al.
Progress in Neuro-psychopharmacology & Biological Psychiatry, 2004
Human dopamine transporter gene variation: effects of protein coding variants V55A and V382A on expression and uptake activities.
Lin Z et al.
The Pharmacogenomics Journal, 2003
The human dopamine transporter gene: gene organization, transcriptional regulation, and potential involvement in neuropsychiatric disorders.
Bannon MJ et al.
European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology, 2001
Haplotype study of three polymorphisms at the dopamine transporter locus confirm linkage to attention-deficit/hyperactivity disorder.
Barr CL et al.
Biological Psychiatry, 2001