Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.D421N
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SLC6A3

NM_001044.5:p.D421N

Associated Papers

Mouse model of atypical DAT deficiency syndrome uncovers dopamine dysfunction associated with parkinsonism and ADHD.

Herborg F et al.

The Journal of Clinical Investigation, 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

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

Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches.

Ng J et al.

Cells, 2023

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 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

Neuropsychiatric disease-associated genetic variants of the dopamine transporter display heterogeneous molecular phenotypes.

Herborg F et al.

The Journal of Biological Chemistry, 2018

Thermodynamic Coupling Function Analysis of Allosteric Mechanisms in the Human Dopamine Transporter.

LeVine MV et al.

Biophysical Journal, 2018

SLC6 Transporter Folding Diseases and Pharmacochaperoning.

Freissmuth M et al.

Handbook of Experimental Pharmacology, 2018

The second sodium site in the dopamine transporter controls cation permeation and is regulated by chloride.

Borre L et al.

The Journal of Biological Chemistry, 2014

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Hansen FH et al.

The Journal of Clinical Investigation, 2014

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

Ng J et al.

Brain : a Journal of Neurology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."