ArticleInternational journal of cell biology2012
Untethering the nuclear envelope and cytoskeleton: biologically distinct dystonias arising from a common cellular dysfunction.
Article in International journal of cell biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 25 citations in OpenAlex.
- Krt14 and Krt15 differentially regulate regenerative properties and differentiation potential of airway basal cells.JCI insight · 2023Article
- Article
- Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology.Diagnostics (Basel, Switzerland) · 2020Article
- Expression of TorsinA in a heterologous yeast system reveals interactions with lumenal domains of LINC and nuclear pore complex components.Molecular biology of the cell · 2019Article
- Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.Nature communications · 2019Article
- TorsinA controls TAN line assembly and the retrograde flow of dorsal perinuclear actin cables during rearward nuclear movement.The Journal of cell biology · 2017Article
- Mutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogaster.Biology open · 2015Article
- Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.Human mutation · 2014Article
- Microfluidic platform to evaluate migration of cells from patients with DYT1 dystonia.Journal of neuroscience methods · 2014Article
- 4-Phenylbutyrate attenuates the ER stress response and cyclic AMP accumulation in DYT1 dystonia cell models.PloS one · 2014Article
- The genetics of dystonia: new twists in an old tale.Brain : a journal of neurology · 2013Review
- Regulation of Torsin ATPases by LAP1 and LULL1.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.Annals of neurology · 2013Article
- The mutation responsible for torsion dystonia type 1 shows the ability to stimulate intracellular aggregation of mutant huntingtin.Developmental period medicineArticle
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
Abstract
Most cases of early onset DYT1 dystonia in humans are caused by a GAG deletion in the TOR1A gene leading to loss of a glutamic acid (ΔE) in the torsinA protein, which underlies a movement disorder associated with neuronal dysfunction without apparent neurodegeneration. Mutation/deletion of the gene (Dst) encoding dystonin in mice results in a dystonic movement disorder termed dystonia musculorum, which resembles aspects of dystonia in humans. While torsinA and dystonin proteins do not share modular domain architecture, they participate in a similar function by modulating a structural link between the nuclear envelope and the cytoskeleton in neuronal cells. We suggest that through a shared interaction with the nuclear envelope protein nesprin-3α, torsinA and the neuronal dystonin-a2 isoform comprise a bridge complex between the outer nuclear membrane and the cytoskeleton, which is critical for some aspects of neuronal development and function. Elucidation of the overlapping roles of torsinA and dystonin-a2 in nuclear/endoplasmic reticulum dynamics should provide insights into the cellular mechanisms underlying the dystonic phenotype.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.