(Q30581669)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911152%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

Missense dopamine transporter mutations associate with adult parkinsonism and ADHD (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911152%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

2 references

parkinsonian syndrome

1 reference

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911152%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Claus J Loland

19

1 reference

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20 March 2020

Ulrik Gether

25

1 reference

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20 March 2020

Simon Pope

13

1 reference

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20 March 2020

Lars Hageman Pinborg

17

1 reference

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20 March 2020

Lei Shi

20

1 reference

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20 March 2020

Harel Weinstein

21

1 reference

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20 March 2020

Lisbeth Birk Møller

24

1 reference

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20 March 2020

author name string

Freja H Hansen

1

1 reference

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20 March 2020

Tina Skjørringe

2

1 reference

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20 March 2020

Saiqa Yasmeen

3

1 reference

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20 March 2020

Natascha V Arends

4

1 reference

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20 March 2020

Michelle A Sahai

5

1 reference

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20 March 2020

Kevin Erreger

6

1 reference

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20 March 2020

Thorvald F Andreassen

7

1 reference

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20 March 2020

Marion Holy

8

1 reference

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20 March 2020

Peter J Hamilton

9

1 reference

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20 March 2020

Viruna Neergheen

10

1 reference

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20 March 2020

Merete Karlsborg

11

1 reference

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20 March 2020

Simon J R Heales

14

1 reference

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20 March 2020

Lars Friberg

15

1 reference

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20 March 2020

Ian Law

16

1 reference

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20 March 2020

Aurelio Galli

22

1 reference

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20 March 2020

Lena E Hjermind

23

1 reference

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20 March 2020

Amy H Newman

12

1 reference

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20 March 2020

language of work or name

English

0 references

publication date

9 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911152%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

20 March 2020

published in

1 reference

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20 March 2020

volume

124

1 reference

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20 March 2020

issue

7

1 reference

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20 March 2020

page(s)

3107-3120

1 reference

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describes a project that uses

20 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4071392/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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Good riddance to dopamine: roles for the dopamine transporter in synaptic function and dopamine-associated brain disorders

20 June 2018

1 reference

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X-ray structure of dopamine transporter elucidates antidepressant mechanism

20 June 2018

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Combined PET/MR imaging in neurology: MR-based attenuation correction implies a strong spatial bias when ignoring bone

20 June 2018

1 reference

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De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder

20 June 2018

1 reference

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How LeuT shapes our understanding of the mechanisms of sodium-coupled neurotransmitter transporters

20 June 2018

1 reference

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Transgenic mouse models for ADHD.

20 June 2018

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Chloride binding site of neurotransmitter sodium symporters

20 June 2018

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PICK1 deficiency impairs secretory vesicle biogenesis and leads to growth retardation and decreased glucose tolerance

20 June 2018

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Nonclassical pharmacology of the dopamine transporter: atypical inhibitors, allosteric modulators, and partial substrates

20 June 2018

1 reference

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A C-terminal PDZ domain-binding sequence is required for striatal distribution of the dopamine transporter

20 June 2018

1 reference

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Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations

20 June 2018

1 reference

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Reduced striatal volumes in Parkinson's disease: a magnetic resonance imaging study

20 June 2018

1 reference

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Ion-controlled conformational dynamics in the outward-open transition from an occluded state of LeuT.

20 June 2018

1 reference

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De novo mutations in human genetic disease

20 June 2018

1 reference

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Attention deficit/hyperactivity disorder-derived coding variation in the dopamine transporter disrupts microdomain targeting and trafficking regulation

20 June 2018

1 reference

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Schizophrenia genetics: putting all the pieces together

20 June 2018

1 reference

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Striatal Dopamine Transporter Alterations in ADHD: Pathophysiology or Adaptation to Psychostimulants? A Meta-Analysis

20 June 2018

1 reference

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X-ray structures of LeuT in substrate-free outward-open and apo inward-open states

20 June 2018

1 reference

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The genetics of attention deficit/hyperactivity disorder in adults, a review

20 June 2018

1 reference

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Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes

20 June 2018

1 reference

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The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

20 June 2018

1 reference

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SLC6 neurotransmitter transporters: structure, function, and regulation

20 June 2018

1 reference

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Strengths and limitations of genetic models of ADHD.

20 June 2018

1 reference

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How addictive drugs disrupt presynaptic dopamine neurotransmission

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

The substrate-driven transition to an inward-facing conformation in the functional mechanism of the dopamine transporter

20 June 2018

1 reference

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Neurobiology of attention deficit/hyperactivity disorder

20 June 2018

1 reference

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Overview of animal models of attention deficit hyperactivity disorder (ADHD).

20 June 2018

1 reference

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

20 June 2018

1 reference

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Ion/substrate-dependent conformational dynamics of a bacterial homolog of neurotransmitter:sodium symporters.

20 June 2018

1 reference

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Dysregulation of dopamine transporters via dopamine D2 autoreceptors triggers anomalous dopamine efflux associated with attention-deficit hyperactivity disorder

20 June 2018

1 reference

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Cortical hypometabolism and hypoperfusion in Parkinson's disease is extensive: probably even at early disease stages.

20 June 2018

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Candidate gene studies of ADHD: a meta-analytic review

20 June 2018

1 reference

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Infantile parkinsonism-dystonia: a dopamine "transportopathy"

20 June 2018

1 reference

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A single nucleotide polymorphism in the human serotonin transporter introduces a new site for N-linked glycosylation.

20 June 2018

1 reference

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Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

20 June 2018

1 reference

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Visualization of dopamine transporter trafficking in live neurons by use of fluorescent cocaine analogs

20 June 2018

1 reference

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Domain coupling in asymmetric lipid bilayers

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Anomalous dopamine release associated with a human dopamine transporter coding variant

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

The binding sites for cocaine and dopamine in the dopamine transporter overlap

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Dopamine transporter mutant mice in experimental neuropharmacology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Mechanism of chloride interaction with neurotransmitter:sodium symporters.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Dopamine: 50 years in perspective

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Molecular biology, pharmacology and functional role of the plasma membrane dopamine transporter

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

The Role of Intracellular Sodium in the Regulation of NMDA-Receptor-Mediated Channel Activity and Toxicity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Rhodamine-labeled 2beta-carbomethoxy-3beta-(3,4-dichlorophenyl)tropane analogues as high-affinity fluorescent probes for the dopamine transporter

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Scalable molecular dynamics with NAMD

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Dopamine-independent locomotor actions of amphetamines in a novel acute mouse model of Parkinson disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Mechanisms of neurotransmitter release by amphetamines: a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

General mechanisms of axonal damage and its prevention

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Surface targeting of the dopamine transporter involves discrete epitopes in the distal C terminus but does not require canonical PDZ domain interactions.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Sustained elevation of extracellular dopamine causes motor dysfunction and selective degeneration of striatal GABAergic neurons.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Plasma membrane monoamine transporters: structure, regulation and function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Monoamine transporters: from genes to behavior

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Symmetrical dimer of the human dopamine transporter revealed by cross-linking Cys-306 at the extracellular end of the sixth transmembrane segment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Hyperactivity and impaired response habituation in hyperdopaminergic mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Regulated trafficking of the human dopamine transporter. Clathrin-mediated internalization and lysosomal degradation in response to phorbol esters

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Role of serotonin in the paradoxical calming effect of psychostimulants on hyperactivity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Carrier-mediated release, transport rates, and charge transfer induced by amphetamine, tyramine, and dopamine in mammalian cells transfected with the human dopamine transporter.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Profound neuronal plasticity in response to inactivation of the dopamine transporter

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Characterization of a CNS cell line, CAD, in which morphological differentiation is initiated by serum deprivation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Multiple ionic conductances of the human dopamine transporter: the actions of dopamine and psychostimulants.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Comparative protein modelling by satisfaction of spatial restraints

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Stable expression of biogenic amine transporters reveals differences in inhibitor sensitivity, kinetics, and ion dependence.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Association of attention-deficit disorder and the dopamine transporter gene.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

A multisubstrate mechanism of striatal dopamine uptake and its inhibition by cocaine

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Cerebrospinal fluid metabolite and nigrostriatal dopaminergic function in Parkinson's disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Correlation between changes in CSF dopamine turnover and development of dyskinesia in Parkinson's disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

The mechanism of a neurotransmitter:sodium symporter--inward release of Na+ and substrate is triggered by substrate in a second binding site

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Calmodulin kinase II interacts with the dopamine transporter C terminus to regulate amphetamine-induced reverse transport.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Sequence variation in the human dopamine transporter gene in children with attention deficit hyperactivity disorder

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Zinc potentiates an uncoupled anion conductance associated with the dopamine transporter

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Identification of intracellular residues in the dopamine transporter critical for regulation of transporter conformation and cocaine binding.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Amphetamine-induced dopamine efflux. A voltage-sensitive and intracellular Na+-dependent mechanism

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Dopamine transporter-mediated conductances increase excitability of midbrain dopamine neurons.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Loss of autoreceptor functions in mice lacking the dopamine transporter

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4071392

Systematic screening for DNA sequence variation in the coding region of the human dopamine transporter gene (DAT1)

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24911152

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A comprehensive structure-based alignment of prokaryotic and eukaryotic neurotransmitter/Na+ symporters (NSS) aids in the use of the LeuT structure to probe NSS structure and function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24911152

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI73778

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911152%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911152%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

PubMed publication ID

24911152

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24911152%20AND%20SRC:MED&resulttype=core&format=json