Parkinsonism-Dystonia, Infantile
|
0.800 |
Biomarker
|
disease |
BEFREE |
The DAT is the molecular target for cocaine and amphetamine as well as a number of pathological conditions including autism spectrum disorders, attention-deficit hyperactivity disorder (ADHD), dopamine transporter deficiency syndrome (DTDS), and Parkinson's disease.
|
30828290 |
2019 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
Biomarker
|
disease |
BEFREE |
Latch and trigger role for R445 in DAT transport explains molecular basis of DTDS.
|
29258773 |
2018 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
Biomarker
|
disease |
BEFREE |
These data indicate the efficacy of a new combinatorial gene therapy aimed at rescuing DA function and related phenotype in a mouse model that best approximates DAT deficiency found in DTDS.
|
28417953 |
2017 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our in vivo phenotypic findings demonstrate a functional conservation between human and nematode DAT and validate previous in vitro indications of the loss of function of hDAT in carriers of DTDS-related mutations.
|
27519790 |
2017 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
Biomarker
|
disease |
CTD_human |
Importantly, both drugs rescue DAT maturation and functional activity of the DTDS-associated mutations A314V and R445C.
|
27555326 |
2016 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Folding-defective mutants of the human dopamine transporter (DAT) cause a syndrome of infantile dystonia/parkinsonism.
|
27481941 |
2016 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Importantly, both drugs rescue DAT maturation and functional activity of the DTDS-associated mutations A314V and R445C.
|
27555326 |
2016 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia.
|
24613933 |
2014 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine transporter.
|
21112253 |
2011 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
Biomarker
|
disease |
BEFREE |
Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine.In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by loss-of-function mutations in DAT that impair dopamine reuptake (see the related article beginning on page 1595).
|
19504720 |
2009 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
Biomarker
|
disease |
BEFREE |
Identification of the molecular basis of IPD suggests SLC6A3 as a candidate susceptibility gene for other movement disorders associated with parkinsonism and/or dystonic features.
|
19478460 |
2009 |
Parkinsonism-Dystonia, Infantile
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Parkinsonism-Dystonia, Infantile
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Parkinsonism-Dystonia, Infantile
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Parkinsonism-Dystonia, Infantile
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
To detect the association between the SLC6A3 gene and the risk of schizophrenia, 31 case-control articles were included in this meta-analysis.
|
31440993 |
2020 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
A set of 41 SNPs of genes for dopamine receptors DRD1, DRD2, DRD3, DRD4, the dopamine transporter SLC6A3 and dopamine catabolizing enzymes MAOA and MAOB was investigated in a population of 446 Caucasians (221 males/225 females) with a clinical diagnosis of schizophrenia (according to ICD-10: F20) with and without HPRL who were treated with classical and/or atypical antipsychotic drugs.
|
30967134 |
2019 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
DAT serves as a site of action for a variety of addictive and therapeutic reuptake inhibitors, and transport dysfunction is associated with transmitter imbalances in disorders such as schizophrenia, attention deficit hyperactive disorder, bipolar disorder, and Parkinson disease.
|
30179648 |
2019 |
Cocaine Dependence
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We found that patients with genetically higher DAT levels had better treatment outcomes with disulfiram pharmacotherapy of cocaine dependence than those with lower DAT levels.(Am J Addict 2019;28:311-317).
|
31087723 |
2019 |
Cocaine Dependence
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Increased expression of Arc, CDK5 and TH, and decrease in DAT protein levels persisted longer after withdrawal, pointing to a neuroplastic lasting effect similar to that involved in cocaine addiction.
|
30321610 |
2019 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Interactions of DA, its analogue with DARs, or DAT have been studied extensively to understand the mechanism of the dopaminergic signaling process and several neurodegenerative diseases, including schizophrenia, Parkinson's diseases, addiction, attention deficit hyperactivity disorder, and bipolar disorder.
|
30024721 |
2018 |
Cocaine Dependence
|
0.600 |
Biomarker
|
disease |
BEFREE |
These data describe the behavioral consequence of cocaine tolerance, provide a putative mechanism for its development, and suggest that compounds that disperse DAT complexes may be efficacious treatments for cocaine addiction.
|
29175958 |
2018 |
Cocaine Dependence
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
<b>Background:</b> Preclinical and clinical data suggest that a compound which binds potently to and inhibits the dopamine transporter, but with a slower onset and offset rate than cocaine and with less abuse potential and psychomotor stimulant activity, could be a useful adjunct in the treatment of cocaine dependence.
|
30042675 |
2018 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
However, DAT protein was significantly increased in putatively treatment-resistant cases of schizophrenia compared to putatively treatment-responsive cases.
|
28094812 |
2017 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Dopamine transporter (DAT) genetic hypofunction in mice produces alterations consistent with ADHD but not schizophrenia or bipolar disorder.
|
28454982 |
2017 |