| pubmed-article:19478460 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19478460 | lifeskim:mentions | umls-concept:C0019904 | lld:lifeskim |
| pubmed-article:19478460 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:19478460 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:19478460 | lifeskim:mentions | umls-concept:C0114838 | lld:lifeskim |
| pubmed-article:19478460 | lifeskim:mentions | umls-concept:C2751067 | lld:lifeskim |
| pubmed-article:19478460 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:19478460 | lifeskim:mentions | umls-concept:C0679058 | lld:lifeskim |
| pubmed-article:19478460 | lifeskim:mentions | umls-concept:C1547699 | lld:lifeskim |
| pubmed-article:19478460 | lifeskim:mentions | umls-concept:C2700640 | lld:lifeskim |
| pubmed-article:19478460 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:19478460 | pubmed:dateCreated | 2009-6-2 | lld:pubmed |
| pubmed-article:19478460 | pubmed:abstractText | 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. | lld:pubmed |
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| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19478460 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:19478460 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19478460 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19478460 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:19478460 | pubmed:issn | 1558-8238 | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:LiYanY | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:ReithMaarten... | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:HealesSimon... | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:MaherEamonn... | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:MorganNeil... | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:GissenPaulP | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:JardinePhilip... | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:TeeLouiseL | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:WassmerEvange... | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:ZhenJuanJ | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:MeyerEstherE | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:PashaShanazS | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:ChengShu-Yuan... | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:MordekarSanto... | lld:pubmed |
| pubmed-article:19478460 | pubmed:author | pubmed-author:KurianManju... | lld:pubmed |
| pubmed-article:19478460 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19478460 | pubmed:volume | 119 | lld:pubmed |
| pubmed-article:19478460 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19478460 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19478460 | pubmed:pagination | 1595-603 | lld:pubmed |
| pubmed-article:19478460 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:19478460 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19478460 | pubmed:articleTitle | Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. | lld:pubmed |
| pubmed-article:19478460 | pubmed:affiliation | Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, United Kingdom. | lld:pubmed |
| pubmed-article:19478460 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19478460 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:19478460 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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