Truncating mutations in THAP1 define the nuclear localization signal

Movement Disorders

Volumn 26, Issue 8, 2011, Pages 1565-1567

  Osmanovic, Alma ^a   Dendorfer, Andreas ^a   Erogullari, Alev ^a   Uflacker, Nils ^a   Braunholz, Diana ^a   Rakovic, Aleksandar ^a   Vierke, Gudrun ^a   Gil Rodríguez, Conchi ^a,b   Münchau, Alexander ^c   Albrecht, Melanie ^a   Brüggemann, Norbert ^a   Gillessen Kaesbach, Gabriele ^a   Klein, Christine ^a   Lohmann, Katja ^a   Kaiser, Frank J ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF ZARAGOZA   (Spain)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; GREEN FLUORESCENT PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR THAP1; UNCLASSIFIED DRUG;

CHROMOSOME 8; CONFOCAL LASER MICROSCOPY; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ANALYSIS; HUMAN; IN VITRO STUDY; LETTER; MISSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; PATHOPHYSIOLOGY; PHOTOMETRY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN LOCALIZATION; TORSION DYSTONIA; WILD TYPE; X CHROMOSOME LINKED DISORDER;

APOPTOSIS REGULATORY PROTEINS; CARCINOMA; CELL LINE, TUMOR; DNA-BINDING PROTEINS; GREEN FLUORESCENT PROTEINS; HUMANS; MICROSCOPY, CONFOCAL; MUTAGENESIS; MUTATION; NUCLEAR LOCALIZATION SIGNALS; NUCLEAR PROTEINS; SUBCELLULAR FRACTIONS; TRANSFECTION;

EID: 79960597533     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23611     Document Type: Letter

References (7)

1. Fuchs T, Gavarini S, Saunders-Pullman R, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009; 41: 286-288.
2. Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009; 8: 441-446.
3. Djarmati A, Schneider SA, Lohmann K, et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009; 8: 447-452.
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.
5. Sohn AS, Glockle N, Doetzer AD, et al. Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord 2010; 25: 1982-1986.
6. Boulikas T. Nuclear localization signals (NLS). Crit Rev Eukaryot Gene Expr 1993; 3: 193-227.
7. Kaiser FJ, Osmanoric A, Rakovic A, et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010; 68: 554-559.