Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism
Makino S, Kaji R, Ando S, Tomizawa M, Yasuno K, Goto S, Matsumoto S, Tabuena M, Maranon E, Dantes M, Lee LV, Ogasawara K, Tooyama I, Akatsu H, Nishimura M, Tamiya. Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism. American Journal Of Human Genetics 2007, 80: 393-406. PMID: 17273961, PMCID: PMC1821114, DOI: 10.1086/512129.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlu ElementsBlotting, NorthernCase-Control StudiesChromosomes, Human, XDNADown-RegulationDystoniaFemaleGenes, X-LinkedGenetic Diseases, X-LinkedHistone AcetyltransferasesHumansImmunoenzyme TechniquesMaleMiddle AgedMolecular Sequence DataNeuronsParkinsonian DisordersPedigreeRepetitive Sequences, Nucleic AcidReverse Transcriptase Polymerase Chain ReactionRNA, MessengerTandem Repeat SequencesTATA BoxTATA-Binding Protein Associated FactorsTranscription Factor TFIIDConceptsNeuron-specific expressionDystonia-parkinsonismTAF1 geneDopamine receptor D2 geneMovement disordersCaudate nucleusBrain tissueDecreased expressionAbnormal patternsGenomic sequencing analysisFactor 1 geneExpression levelsCausative genesCaudateSVA retrotransposon insertionD2 geneSequencing analysis