Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Optogenetic augmentation of the hypercholinergic endophenotype in DYT1 knock-in mice induced erratic hyperactive movements but not dystonia.
|
30819512 |
2019 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
DYT1 dystonia patient-derived fibroblasts also exhibit increased nuclear strain and decreased viability following mechanical stretch.
|
31294022 |
2019 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
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 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
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 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Heterozygous mutations in TOR1A gene are known to be responsible for DYT1 dystonia with incomplete penetrance.
|
30244176 |
2019 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
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 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
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 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
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 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
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 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
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 |
Dystonia
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Subtle changes in striatal muscarinic M1 and M4 receptor expression in the DYT1 knock-in mouse model of dystonia.
|
31805123 |
2019 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
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 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
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 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
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 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
The potential mechanisms behind increased motor variability and its corresponding implications for the rehabilitation of patients with DYT1 dystonia are highlighted.
|
29483592 |
2018 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Dystonia-1 (DYT1) is an autosomal dominant early-onset torsion form of dystonia, a neurological disease affecting movement.
|
29127012 |
2018 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
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 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Exploring the Interaction Between eIF2α Dysregulation, Acute Endoplasmic Reticulum Stress and DYT1 Dystonia in the Mammalian Brain.
|
29289717 |
2018 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
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 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
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 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
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 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a.
|
30403723 |
2018 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Odds ratios (ORs) were calculated in each study to estimate the influence of TOR1A SNPs genotypes on the risk of dystonia.
|
28081261 |
2017 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Although clinically similar to most cohorts with dystonia worldwide, the classical mutation (c.907_909delGAG) in TOR1A (causing DYT1) is absent in our patients.
|
26940431 |
2017 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
This control mechanism is offset by a TorsinA mutation implicated in the severe movement disorder DYT1 dystonia, suggesting a critical role for the functional Torsin-cofactor interplay <i>in vivo</i>.
|
28553638 |
2017 |