×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
GeneticVariation
disease
BEFREE
Cranial involvement was present in 49% of non-DYT1 cases, but only 14% of DYT1 cases; non-DYT1 patients were younger at time of generalization.
16773641
2006
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
Biomarker
disease
GENOMICS_ENGLAND
Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.
16537570
2006
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
GeneticVariation
disease
UNIPROT
Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics.
16361107
2006
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
Biomarker
disease
MGD
Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia.
16242683
2005
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
Biomarker
disease
MGD
Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope.
16364897
2005
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
GeneticVariation
disease
UNIPROT
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant.
15505207
2004
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
GeneticVariation
disease
UNIPROT
The early onset dystonia protein torsinA interacts with kinesin light chain 1.
14970196
2004
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
Biomarker
disease
GENOMICS_ENGLAND
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
11523564
2001
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
CausalMutation
disease
CLINVAR
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
10627938
1999
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
CausalMutation
disease
CLINVAR
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.
10435508
1999
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
CausalMutation
disease
CLINVAR
The molecular genetics of the dystonias.
9576529
1998
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
GeneticVariation
disease
UNIPROT
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
9288096
1997
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
CausalMutation
disease
CLINVAR
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
9288096
1997
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
GeneticVariation
disease
BEFREE
The clinical features of prominent cranial involvement and impaired speech distinguish this "non-DYT1 " early-onset ITD family from the typical DYT1 phenotype.
7845403
1994
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
GeneticVariation
disease
CLINVAR
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.900
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.030
Biomarker
disease
BEFREE
Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A ), DYT6 (THAP1), DYT25 (GNAL).
25155315
2014
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.030
GeneticVariation
disease
BEFREE
We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1? ) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement.
20925076
2010
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.030
AlteredExpression
disease
BEFREE
Our data demonstrate that THAP1 regulates the transcription of TOR1A , suggesting transcriptional dysregulation as a cause of dystonia.
20976771
2010
×
Entrez Id:
2915
Gene Symbol:
GRM5
GRM5
0.010
Biomarker
disease
BEFREE
Negative allosteric modulation of mGlu5 receptor rescues striatal D2 dopamine receptor dysfunction in rodent models of DYT1 dystonia.
24951854
2014
×
Entrez Id:
6531
Gene Symbol:
SLC6A3
SLC6A3
0.010
Biomarker
disease
BEFREE
Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivo.
20132487
2010
×
Entrez Id:
2643
Gene Symbol:
GCH1
GCH1
0.010
GeneticVariation
disease
BEFREE
Mutations in a gene coding for an ATP-binding protein were detected in idiopathic torsion dystonia (DYT1 ), and the GTP cyclohydrolase 1 gene is mutated in dopa-responsive dystonia (DYT5).
10737119
1998