TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE In contrast, ʟ-DOPA, which is not usually effective for the treatment of DYT1 dystonia, did not increase dopamine release in either Dyt1 or control mice. 30707939 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Heterozygous mutations in TOR1A gene are known to be responsible for DYT1 dystonia with incomplete penetrance. 30244176 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Interestingly, mutations in the TOR1A gene (the gene encoding torsinA) are associated with DYT1 dystonia and with the preferential localization of mutated torsinA at the NE, where it is associated with lamina-associated polypeptide 1. 30246678 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE DYT1 dystonia is caused by an in-frame deletion of a glutamic acid codon in the gene encoding the AAA+ ATPase TorsinA (TorA). 30625036 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE This review will summarize our current knowledge on the molecular and basic biological features of torsinA and its dysfunction when carrying disease-causing mutation, identifying future research priorities and proposing a model of dystonia pathogenesis that might extend beyond DYT1. 30877032 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE DYT1 dystonia is a neurological disease caused by a dominant mutation that results in the loss of a glutamic acid in the endoplasmic reticulum-resident protein torsinA. 30366018 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Three forms of isolated human dystonia result from mutations in the <i>TOR1A</i> (DYT1), <i>THAP1</i> (DYT6), and <i>GNAL</i> (DYT25) genes. 31320448 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE We also outline our experimental work in DYT1 dystonia, a group of patients that share a genetically homogenous etiology and can be considered a prototypical dystonic disorder. 31325984 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE DYT1 dystonia patient-derived fibroblasts also exhibit increased nuclear strain and decreased viability following mechanical stretch. 31294022 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Optogenetic augmentation of the hypercholinergic endophenotype in DYT1 knock-in mice induced erratic hyperactive movements but not dystonia. 30819512 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE These findings suggest distinct pathogenetic mechanisms between manif-DYT1 vs. non-manif-DYT1 and manif-non-DYT1 dystonia, especially in terms of possible nigral dopaminergic abnormalities. 30193818 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE These data introduce targets for future studies to identify which are causative and which are compensatory in DYT1 dystonia, and thereby aid in defining appropriate therapies. 31669362 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 AlteredExpression group BEFREE Subtle changes in striatal muscarinic M1 and M4 receptor expression in the DYT1 knock-in mouse model of dystonia. 31805123 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE We used a multidisciplinary approach to investigate the responses to mu activation in 2 mouse models of DYT1 dystonia (Tor1a<sup>+/Δgag</sup> mice, Tor1a<sup>+/-</sup> torsinA null mice, and their respective wild-types). 29150865 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. 29396174 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Six patients aged 7 to 16 years and diagnosed with isolated dystonia ( DYT1 negative) (3 patients), choreo-dystonia related to PDE2A mutation (1 patient), or myoclonus-dystonia syndrome SGCE mutations (2 patients) were evaluated during a period of 6 to 19 months. 30028274 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Deep brain stimulation (DBS) has been used successfully to treat refractory dystonia, specifically globus pallidus interna (GPi) DBS for DYT1-positive PGD patients. 28586458 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Dystonia-1 (DYT1) is an autosomal dominant early-onset torsion form of dystonia, a neurological disease affecting movement. 29127012 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE In the <i>Tor1a</i><sup>+/Δgag</sup> DYT1 dystonia mouse model, long-term potentiation (LTP) appeared prematurely in a critical developmental window in striatal spiny neurons (SPNs), while long-term depression (LTD) was never recorded. 29504938 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a. 30403723 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Exploring the Interaction Between eIF2α Dysregulation, Acute Endoplasmic Reticulum Stress and DYT1 Dystonia in the Mammalian Brain. 29289717 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE The potential mechanisms behind increased motor variability and its corresponding implications for the rehabilitation of patients with DYT1 dystonia are highlighted. 29483592 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Our study suggests that there is an association between rs35153737 and dystonia in a southwestern Chinese population, and it may be caused by high linkage disequilibrium between this deletion and potential pathogenic variants in TOR1A. 28756192 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Sensorimotor tests unmask a phenotype in the DYT1 knock-in mouse model of dystonia. 27769743 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Executive dysfunction is a feature of cognitive function in idiopathic and DYT1 dystonia. 29077804 2017