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 |
|
|
|