X-linked dystonia parkinsonism syndrome (XDP, lubag): Disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism

Human Molecular Genetics

Volumn 22, Issue 5, 2013, Pages 941-951

  Herzfeld, Thilo ^a   Nolte, Dagmar ^a   Grznarova, Maria ^a   Hofmann, Andrea ^b   Schultze, Joachim L ^b   Müller, Ulrich ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DYT3 PROTEIN; PROTEIN; REACTIVE OXYGEN METABOLITE; TATA BINDING PROTEIN ASSOCIATED FACTOR; UNCLASSIFIED DRUG; VESICULAR TRANSPORT PROTEIN;

ARTICLE; BRAIN CORTEX; BRAIN FUNCTION; CALCIUM METABOLISM; CELL INTERACTION; CELL MOTION; CONTROLLED STUDY; DOPAMINE METABOLISM; EXON; EXPRESSION VECTOR; EXTRAPYRAMIDAL SYMPTOM; FRONTAL CORTEX; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE FUNCTION; HOUSEKEEPING GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY; LIVER; NERVE DEGENERATION; NEUROBLASTOMA CELL; NEUROTRANSMISSION; NUCLEUS ACCUMBENS; OPEN READING FRAME; OXIDATIVE STRESS; PATHOGENESIS; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETAL MUSCLE; X CHROMOSOMAL DYSTONIA PARKINSONISM SYNDROME;

ALTERNATIVE SPLICING; CALCIUM; CELL LINE; DESMOCOLLINS; DOPAMINE; DYSTONIA; EXONS; GENETIC DISEASES, X-LINKED; HISTONE ACETYLTRANSFERASES; HUMANS; INTRONS; NEUROBLASTOMA; PARKINSONIAN DISORDERS; TATA-BINDING PROTEIN ASSOCIATED FACTORS; TRANSCRIPTION FACTOR TFIID; VESICULAR TRANSPORT PROTEINS;

EID: 84873438136     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds499     Document Type: Article

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