Associated Papers
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
Dopamine Transporter Deficiency Syndrome: A Rare Case of Infantile-Onset Dystonia-Parkinsonism.
Madduluri B et al.
Journal of Movement Disorders, 2025
40262646 (PubMed )
Supplement: jmd-25057-Supplementary-Table-1.pdf
The Ins and Outs of Dopamine Transporter Gene Manipulation: In Vivo Models of DAT Dysfunction.
Stewart A et al.
Advances in Neurobiology, 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
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
Tropane-Based Ibogaine Analog Rescues Folding-Deficient Serotonin and Dopamine Transporters.
Bhat S et al.
Acs Pharmacology & Translational Science, 2021
Latch and trigger role for R445 in DAT transport explains molecular basis of DTDS.
Reith MEA et al.
Bioorganic & Medicinal Chemistry Letters, 2018
SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Freissmuth M et al.
Handbook of Experimental Pharmacology, 2018
Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism.
Asjad HMM et al.
The Journal of Biological Chemistry, 2017
Potentiating SLC transporter activity: Emerging drug discovery opportunities.
Rives ML et al.
Biochemical Pharmacology, 2017
Pharmacological Chaperones of the Dopamine Transporter Rescue Dopamine Transporter Deficiency Syndrome Mutations in Heterologous Cells.
Beerepoot P et al.
The Journal of Biological Chemistry, 2016
Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.
Fischer J et al.
Journal of Molecular Endocrinology, 2015
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Ng J et al.
Brain : a Journal of Neurology, 2014
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