Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A3
Variant:p.P554L
Back to variants list

SLC6A3

NM_001044.5:p.P554L

Associated Papers

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).

Yuan X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

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

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

Tropane-Based Ibogaine Analog Rescues Folding-Deficient Serotonin and Dopamine Transporters.

Bhat S et al.

Acs Pharmacology & Translational Science, 2021

The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.

Farr CV et al.

Frontiers in Synaptic Neuroscience, 2020

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

A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome.

Illiano P et al.

The European Journal of Neuroscience, 2017

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

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

Kurian MA et al.

The Lancet. Neurology, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."