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Items: 1 to 20 of 293

1.

Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics.

Hewett JW, Zeng J, Niland BP, Bragg DC, Breakefield XO.

Neurobiol Dis. 2006 Apr;22(1):98-111. Epub 2005 Dec 19.

PMID:
16361107
2.

Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells.

Misbahuddin A, Placzek MR, Taanman JW, Gschmeissner S, Schiavo G, Cooper JM, Warner TT.

Mov Disord. 2005 Apr;20(4):432-40.

PMID:
15593317
3.

Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors.

Bragg DC, Camp SM, Kaufman CA, Wilbur JD, Boston H, Schuback DE, Hanson PI, Sena-Esteves M, Breakefield XO.

Neuroscience. 2004;125(3):651-61.

PMID:
15099679
4.
5.

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.

Hewett J, Gonzalez-Agosti C, Slater D, Ziefer P, Li S, Bergeron D, Jacoby DJ, Ozelius LJ, Ramesh V, Breakefield XO.

Hum Mol Genet. 2000 May 22;9(9):1403-13.

PMID:
10814722
6.

Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.

Kock N, Naismith TV, Boston HE, Ozelius LJ, Corey DP, Breakefield XO, Hanson PI.

Hum Mol Genet. 2006 Apr 15;15(8):1355-64. Epub 2006 Mar 14.

PMID:
16537570
7.
8.

TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.

Nery FC, Zeng J, Niland BP, Hewett J, Farley J, Irimia D, Li Y, Wiche G, Sonnenberg A, Breakefield XO.

J Cell Sci. 2008 Oct 15;121(Pt 20):3476-86. doi: 10.1242/jcs.029454. Epub 2008 Sep 30.

9.

Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA.

Bragg DC, Kaufman CA, Kock N, Breakefield XO.

Mol Cell Neurosci. 2004 Dec;27(4):417-26.

PMID:
15555920
10.

Brainstem pathology in DYT1 primary torsion dystonia.

McNaught KS, Kapustin A, Jackson T, Jengelley TA, Jnobaptiste R, Shashidharan P, Perl DP, Pasik P, Olanow CW.

Ann Neurol. 2004 Oct;56(4):540-7. Erratum in: Ann Neurol. 2004 Nov;56(5):750.

PMID:
15455404
11.

TorsinB--perinuclear location and association with torsinA.

Hewett JW, Kamm C, Boston H, Beauchamp R, Naismith T, Ozelius L, Hanson PI, Breakefield XO, Ramesh V.

J Neurochem. 2004 Jun;89(5):1186-94.

12.

Characterization of the porcine TOR1A gene: The first step towards generation of a pig model for dystonia.

Henriksen C, Madsen LB, Bendixen C, Larsen K.

Gene. 2009 Feb 1;430(1-2):105-15. doi: 10.1016/j.gene.2008.10.023. Epub 2008 Nov 6.

PMID:
19028553
13.

The dystonia-associated protein torsinA modulates synaptic vesicle recycling.

Granata A, Watson R, Collinson LM, Schiavo G, Warner TT.

J Biol Chem. 2008 Mar 21;283(12):7568-79. doi: 10.1074/jbc.M704097200. Epub 2007 Dec 31.

14.

TorsinA negatively controls neurite outgrowth of SH-SY5Y human neuronal cell line.

Ferrari-Toninelli G, Paccioretti S, Francisconi S, Uberti D, Memo M.

Brain Res. 2004 Jun 25;1012(1-2):75-81.

PMID:
15158163
15.

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.

Rostasy K, Augood SJ, Hewett JW, Leung JC, Sasaki H, Ozelius LJ, Ramesh V, Standaert DG, Breakefield XO, Hedreen JC.

Neurobiol Dis. 2003 Feb;12(1):11-24.

PMID:
12609485
16.

siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells.

Hewett JW, Nery FC, Niland B, Ge P, Tan P, Hadwiger P, Tannous BA, Sah DW, Breakefield XO.

Hum Mol Genet. 2008 May 15;17(10):1436-45. doi: 10.1093/hmg/ddn032. Epub 2008 Feb 7.

17.

Recombinant expression, purification, and comparative characterization of torsinA and its torsion dystonia-associated variant Delta E-torsinA.

Kustedjo K, Deechongkit S, Kelly JW, Cravatt BF.

Biochemistry. 2003 Dec 30;42(51):15333-41.

PMID:
14690443
18.

Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities.

Grundmann K, Reischmann B, Vanhoutte G, Hübener J, Teismann P, Hauser TK, Bonin M, Wilbertz J, Horn S, Nguyen HP, Kuhn M, Chanarat S, Wolburg H, Van der Linden A, Riess O.

Neurobiol Dis. 2007 Aug;27(2):190-206. Epub 2007 May 18.

PMID:
17601741
19.

Silencing primary dystonia: lentiviral-mediated RNA interference therapy for DYT1 dystonia.

Gonzalez-Alegre P, Bode N, Davidson BL, Paulson HL.

J Neurosci. 2005 Nov 9;25(45):10502-9.

20.

Molecular defects of the dystonia-causing torsinA mutation.

Pham P, Frei KP, Woo W, Truong DD.

Neuroreport. 2006 Nov 6;17(16):1725-8.

PMID:
17047461

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