ArticleNeurobiology of disease2017
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.
Article in Neurobiology of disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Deep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.Neurosurgical review · 2021Pooled it
- Effects of 6-months of SSRI use on DNA-methylation and gene expression in blood.Brain, behavior, and immunity · 2026Trial
- Convergence Deficits in Myoclonus-Dystonia Point to Cerebellar Impairment.Movement disorders clinical practice · 2026Trial
- From SGCE gene to symptoms: decoding myoclonus-dystonia.Acta neurologica Belgica · 2025Review
- Article
- Sex-specific alterations of Purkinje cell firing inDystonia (Lausanne, Switzerland) · 2025Article
- Cerebellar contributions to dystonia: unraveling the role of Purkinje cells and cerebellar nuclei.Dystonia (Lausanne, Switzerland) · 2025Article
- Microstructure of the cerebellum and its afferent pathways underpins dystonia in myoclonus dystonia.European journal of neurology · 2024Article
- The integrated stress response pathway and neuromodulator signaling in the brain: lessons learned from dystonia.The Journal of clinical investigation · 2024Review
- Translating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders.Advanced genetics (Hoboken, N.J.) · 2023Article
- The humanised CYP2C19 transgenic mouse exhibits cerebellar atrophy and movement impairment reminiscent of ataxia.Neuropathology and applied neurobiology · 2023Article
- Synaptic Dysfunction in Dystonia: Update From Experimental Models.Current neuropharmacology · 2023Review
- Behavioral and molecular effects of Ubtf knockout and knockdown in mice.Brain research · 2022Article
- Synaptic effects of ethanol on striatal circuitry: therapeutic implications for dystonia.The FEBS journal · 2022Review
- Reversal of motor-skill transfer impairment by trihexyphenidyl and reduction of dorsolateral striatal cholinergic interneurons inIBRO neuroscience reports · 2021Article
- 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
- Combined dystonias: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.Annals of neurology · 2021Article
- Dystonia 16 (DYT16) mutations in PACT cause dysregulated PKR activation and eIF2α signaling leading to a compromised stress response.Neurobiology of disease · 2020Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A "major" ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a "brain-specific" protein, that includes sequence derived from alternative exon 11b (CCDS47642.1, NM_001099400.1), are reportedly localized in post- and pre-synaptic membrane fractions, respectively. Moreover, deficiency of the "brain-specific" isoform and other isoforms derived from exon 11b may be central to the pathogenesis of DYT11. However, no animal model supports this hypothesis. Gene-trapped ES cells (CMHD-GT_148G1-3, intron 9 of NM_011360) were used to generate a novel Sgce mouse model (C57BL/6J background) with markedly reduced expression of isoforms derived from exons 3' to exon 9 of NM_011360. Among those brain regions analyzed in adult (2month-old) wild-type (WT) mice, cerebellum showed the highest relative expression of isoforms incorporating exon 11b. Homozygotes (Sgce
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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.