Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients

Movement Disorders

Volumn 27, Issue 7, 2012, Pages 917-917

  Palada, Vinko ^a,b   Stiern, Sandra ^a   Glöckle, Nicola ^a   Gómez Garre, Pilar ^c   Carrillo, Fatima ^c   Mir, Pablo ^c,d   Szczaluba, Krzysztof ^e   Tinazzi, Michele ^f   Ajena, Domenico ^f   Romani, Marta ^g   Valente, Enza Maria ^g,h   Müller, Ulrich ⁱ   Bauer, Peter ^a   Riess, Olaf ^a   Ott, Thomas ^a   Grundmann, Kathrin ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^e INSTITUTE OF MOTHER AND CHILD   (Poland)

^f UNIVERSITY OF VERONA   (Italy)

^g CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^h UNIVERSITY OF MESSINA   (Italy)

ⁱ JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; AUTOSOMAL DOMINANT INHERITANCE; BINDING SITE; CLINICAL ARTICLE; DYSTONIA; DYT1 DYSTONIA; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LETTER; MALE; PRIORITY JOURNAL; PROMOTER REGION; THAP1 GENE; TOR1A GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; APOPTOSIS REGULATORY PROTEINS; BINDING SITES; DNA-BINDING PROTEINS; DYSTONIA MUSCULORUM DEFORMANS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; MUTATION; NUCLEAR PROTEINS; PROMOTER REGIONS, GENETIC; YOUNG ADULT;

EID: 84862665028     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.24974     Document Type: Letter

References (7)

1. Gavarini S, Cayrol C, Fuchs T, et al. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol 2010; 68: 418-420.
2. Kaiser FJ, Osmanovic A, Rakovic A, et al. The dystonia gene DYT1 is repressed by the transcriptional factor THAP1 (DYT6). Ann Neurol 2010; 68: 554-559.
3. Kamm C, Uflacker N, Asmus F, et al. No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia. Mov Disord 2011; 26: 2136-2137.
4. Houlden H, Schneider SA, Paudel R, et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 2010; 74: 846-850.
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6. Armata IA, Ananthanarayanan M, Balasubramaniyan N, et al. Regulation of DYT1 gene expression by the Ets family of transcription factors. J Neurochem 2008; 106: 1052-1065.
7. Leung JC, Klein C, Friedman J, et al. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001; 3: 133-143.