Recombinant Human Epsilon-sarcoglycan (SGCE)

1. The characterization of iPSC-derived cortical neurons with mutations in SGCE revealed that these cells are a suitable model mirroring the endogenous environment in the myoclonus-dystonia patient brain, especially, when focusing on concrete molecular aspects of the disease mechanism. PMID: 28155872
2. A novel nonsense SGCE mutation was found in a Japanese family with myoclonus-dystonia. PMID: 28707723
3. This study demonstrated that Psychiatric features are not likely to be related with the SGCE mutation itself but just bespeak disability in clinical MD syndrome regardless of the SGCE mutation. PMID: 28690014
4. SGCE mutation can cause a broad range of clinical symptoms between and within families. We should consider MDS as a differential diagnosis for patients with paroxysmal walking abnormalities and/or myoclonic movements. PMID: 25868953
5. Tata confirms that SGCE mutations are most commonly identified in Myoclonus dystonia syndrome patients with (1) age at onset
6. found one patient with a novel heterozygous frameshift mutation in the DYT11 gene PMID: 25150291
7. The co-occurrence of seizures and myoclonus-dystonia suggests that they are both due to the same underlying SGCE mutation PMID: 24297365
8. A novel frameshift mutation of the SGCE gene in an Iranian family with Myoclonus-dystonia syndrome confirming the variability of the clinical symptoms caused by the same mutation within members of a family. PMID: 25034659
9. In myoclonus-dystonia syndrome patients a substantial mutation in exon 3 of SGCE gene was found. PMID: 23561547
10. The results of this study suggested performing gene dosage analysis by multiple ligation-dependent probe amplification (MLPA) to individuate large SGCE deletions that can be responsible for complex phenotypes. PMID: 23677909
11. SGCE mutations are associated with a specific psychiatric phenotype consisting of compulsivity, anxiety and alcoholism in addition to the characteristic motor phenotype. PMID: 23365103
12. Although reduced penetrance in DYT11-MD has been attributed to the maternal imprinting epsilon-sarcoglycan mutations, NM-DYT11 carriers showed significant metabolic abnormalities that are not explained by this genetic model. PMID: 23284065
13. anxiety disorders and executive dysfunctions may be part of the phenotype of myoclonus-dystonia patients with a DYT11 mutation PMID: 22626943
14. The results of this review confirmed the association of epsilon-sarcoglycan gene mutations with psychiatric disease and suggest a possible separation of the motor and psychiatric effects. PMID: 21713999
15. This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol-induced dystonia. PMID: 22026499
16. Dystonia severity in twenty-five clinically affected DYT11 mutation carriers is strongly correlated with increased gray matter volume in bilateral putamina. PMID: 21219543
17. This study demonistrated that Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. PMID: 21425342
18. the mRNA expression level of SGCE were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts PMID: 21767414
19. This study provides the first neurophysiological evidence of cerebellar dysfunction in DYT11 dystonia and supports a role of cerebellar dysfunction in the myoclonus-dystonia phenotype. PMID: 21386109
20. Biased SGCE gene expression is based on parent of origin rather than on a strictly dichotomous maternal imprinting mechanism, consistent with clinical observations. PMID: 21320983
21. loss of function of the brain-specific SGCE isoform underlies the exclusively neurological myoclonus-dystonia phenotype PMID: 21157498
22. Bilateral deep brain stimulation of the internal pallidum proves to be safe and highly effective therapy in a homogeneous population of patients with myoclonus-dystonia due to genetically proved epsilon-sarcoglycan deficiency. PMID: 21220679
23. This study identified three novel mutations of SGCE in the respective three myoclonus-dystonia syndrome families in Taiwan. PMID: 20800530
24. MMP-7 and SGCE are distinctive molecular factors in sporadic colorectal cancers from the mutator phenotype pathway PMID: 20372795
25. Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia PMID: 12444570
26. Physiology and surgical response for a 63-year-old woman who underwent deep brain stimulation for myoclonus dystonia related to a SGCE mutation. PMID: 19896264
27. 33 month old girl & her twin brother presenting myoclonus on intentional tasks; family history was positive for paternal uncle, his 2 daughters & paternal great grandfather; sequencing revealed a novel nonsense mutation c.942C>A (p.Tyr314X) in exon 7. PMID: 19147379
28. Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype PMID: 12325078
29. Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. PMID: 12402271
30. placental transcription from SGCE remained unchanged throughout pregnancy PMID: 12620933
31. Severe myoclonus-dystonia syndrome characterized by obsessive-compulsive disorder, depression, and anxiety was shown to be associated with a novel truncating mutation located within exon 4 of SGCE. PMID: 12707948
32. Genetic analysis of a 5-generation Dutch family with inherited myoclonus-dystonia revealed a 1-bp insertion (885Tins)in exon 7 of the SGCE gene, resulting in frameshift and subsequent protein truncation at amino acid 297. PMID: 12821748
33. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous. PMID: 14978685
34. Mutatoins sarse not sassociaatd with sporadic Gilles de la Tourette syndrome. PMID: 15627203
35. 3 new mutations were found in patients with essential myoclous or myoclonic dystonia:R372X, 564-576del, IVS3-3T>C. PMID: 15728306
36. onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the epsilon-sarcoplycan mutation carriers. PMID: 16534121
37. Some Myoclonus-dystonia syndrome-associated mutations in SGCE impair trafficking of the mutant protein to the plasma membrane. PMID: 17200151
38. a heterozygous point mutation in the epsilon-sarcoglycan gene, which leads to skipping of exon 5 in a family with myoclonus-dystonia syndrome complicated with severe depression PMID: 17230465
39. Obsessive-compulsive disorder and alcohol dependence are associated with manifesting mutated SGCE. PMID: 17296918
40. Our findings are not sufficient to conclude whether different SGCE mutations could lead to different phenoytpes of myoclonus-dystonia. PMID: 17394244
41. Korean Myoclonus-dystonia syndrome family with a novel splicing mutation of the SGCE gene and a unique phenotype mimicking Moya-Moya disease. PMID: 17394247
42. Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. PMID: 17702041
43. Two additional patients carried a de novo SGCE nonsense mutation in exon 3 (R97X) and a novel SGCE missense mutation in exon 6 (G227V) in this study. PMID: 17702043
44. Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype in myoclonus-dystonia. PMID: 17898012
45. intragenic deletions with SGCE and it highlights the need to include exonic copy number variation when performing mutational analysis of SGCE. PMID: 18098280
46. Real-time PCR showed that ETOH significantly altered the expression of genes involved in cell adhesion. There was an increase in the expression of alpha and beta Laminins 1, beta Integrins 3 and 5, Secreted phosphoprotein1 and Sarcoglycan epsilon. PMID: 18162078
47. Myoclonus-dystonia due to SGCE protein mutations is characterized by early onset myoclonic jerks, often associated with dystonia. PMID: 18175340
48. Two heterozygous deletions of the entire SGCE gene and flanking DNA and a heterozygous deletion of exon 2 only were detected, accounting for 33% (3/9) of the mutations found. PMID: 18205193
49. There was no association of the SCGE coding & flanking intronic region in OCD and/or GTS or CMT. The functional relevance of a newly found c.1314+172T>C 3'-untranslated region variant has yet to be determined. PMID: 18349702
50. No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. PMID: 18355305

显示更多

收起更多

HGNC: 10808

OMIM: 159900

KEGG: hsa:8910

UniGene: Hs.371199