| http://purl.uniprot.org/citations/19478460 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19478460 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19478460 | http://www.w3.org/2000/01/rdf-schema#comment | "Genetic variants of the SLC6A3 gene that encodes the human dopamine transporter (DAT) have been linked to a variety of neuropsychiatric disorders, particularly attention deficit hyperactivity disorder. In addition, the homozygous Slc6a3 knockout mouse displays a hyperactivity phenotype. Here, we analyzed 2 unrelated consanguineous families with infantile parkinsonism-dystonia (IPD) syndrome and identified homozygous missense SLC6A3 mutations (p.L368Q and p.P395L) in both families. Functional studies demonstrated that both mutations were loss-of-function mutations that severely reduced levels of mature (85-kDa) DAT while having a differential effect on the apparent binding affinity of dopamine. Thus, in humans, loss-of-function SLC6A3 mutations that impair DAT-mediated dopamine transport activity are associated with an early-onset complex movement disorder. 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."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci39060"xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci39060"xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Reith M.E."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Reith M.E."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Tee L."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Tee L."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Meyer E."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Meyer E."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Maher E.R."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Maher E.R."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Morgan N.V."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Morgan N.V."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Pasha S."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Pasha S."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Kurian M.A."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Kurian M.A."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Cheng S.Y."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Cheng S.Y."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Wassmer E."xsd:string |
| http://purl.uniprot.org/citations/19478460 | http://purl.uniprot.org/core/author | "Wassmer E."xsd:string |