ArticleHuman molecular genetics2012
Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 37 citations in OpenAlex.
- Neuroprotective effects of vitamin C on hypoxic-ischemic brain injury in neonatal mice.Pediatric research · 2025Article
- Sex-specific alterations of Purkinje cell firing inDystonia (Lausanne, Switzerland) · 2025Article
- Subtle changes in Purkinje cell firing in Purkinje cell-specificDystonia (Lausanne, Switzerland) · 2025Article
- Synaptic Dysfunction in Dystonia: Update From Experimental Models.Current neuropharmacology · 2023Review
- Synaptic effects of ethanol on striatal circuitry: therapeutic implications for dystonia.The FEBS journal · 2022Review
- Characterization of the direct pathway in Dyt1 ΔGAG heterozygous knock-in mice and dopamine receptor 1-expressing-cell-specific Dyt1 conditional knockout mice.Behavioural brain research · 2021Article
- ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.Molecular neurobiology · 2021Review
- Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.International journal of molecular sciences · 2021Article
- Improved survival and overt "dystonic" symptoms in a torsinA hypofunction mouse model.Behavioural brain research · 2020Article
- Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice.Neurobiology of disease · 2020Article
- Acute cerebellar knockdown ofeLife · 2019Article
- How Many Types of Dystonia? Pathophysiological Considerations.Frontiers in neurology · 2018Review
- Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Molecular neurobiology · 2017Review
- Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.Neurobiology of disease · 2017Article
- Electromyographic evidence in support of a knock-in mouse model of DYT1 Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2016Article
- Striatal cholinergic dysfunction as a unifying theme in the pathophysiology of dystonia.Progress in neurobiology · 2015Review
- Behavioral and electrophysiological characterization of Dyt1 heterozygous knockout mice.PloS one · 2015Article
- Engineering animal models of dystonia.Movement disorders : official journal of the Movement Disorder Society · 2013Review
- Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.Current neuropharmacology · 2013Article
- Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out.Behavioural brain research · 2012Article
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4 authors at 3 institutions in 1 country.
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Abstract
DYT11 myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonic symptoms and caused by mutations in paternally expressed SGCE, which codes for ε-sarcoglycan. Paternally inherited Sgce heterozygous knock-out (KO) mice exhibit motor deficits and spontaneous myoclonus. Abnormal nuclear envelopes have been reported in cellular and mouse models of early-onset DYT1 generalized torsion dystonia; however, the relationship between the abnormal nuclear envelopes and motor symptoms are not clear. Furthermore, it is not known whether abnormal nuclear envelope exists in non-DYT1 dystonia. In the present study, abnormal nuclear envelopes in the striatal medium spiny neurons (MSNs) were found in Sgce KO mice. To analyze whether the loss of ε-sarcoglycan in the striatum alone causes abnormal nuclear envelopes, motor deficits or myoclonus, we produced paternally inherited striatum-specific Sgce conditional KO (Sgce sKO) mice and analyzed their phenotypes. Sgce sKO mice exhibited motor deficits in both beam-walking and accelerated rotarod tests, while they did not exhibit abnormal nuclear envelopes, alteration in locomotion, or myoclonus. The results suggest that the loss of ε-sarcoglycan in the striatum contributes to motor deficits, while it alone does not produce abnormal nuclear envelopes or myoclonus. Development of therapies targeting the striatum to compensate for the loss of ε-sarcoglycan function may rescue the motor deficits in DYT11 M-D patients.
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