Sarcoglycan, epsilon Proteins (SGCE)

Human Sarcoglycan, epsilon (SGCE) interaction partners

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.

2. A novel nonsense SGCE mutation was found in a Japanese family with myoclonus-dystonia.

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.

4. SGCE mutation can cause a broad range of clinical symptoms between and within families. We should consider MDS (show PAFAH1B1 Proteins) as a differential diagnosis for patients with paroxysmal walking abnormalities and/or myoclonic movements.

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

7. The co-occurrence of seizures and myoclonus-dystonia suggests that they are both due to the same underlying SGCE mutation

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.

9. In myoclonus-dystonia syndrome patients a substantial mutation in exon 3 of SGCE gene was found.

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.

Pig (Porcine) Sarcoglycan, epsilon (SGCE) interaction partners

Mouse (Murine) Sarcoglycan, epsilon (SGCE) interaction partners

1. Sgcem+/pGt (show SLCO2A1 Proteins) mice show germline absence of major and brain-specific (show CALY Proteins) isoforms harboring exons 3' to intron 9. Sgce was maternally-imprinted in our mouse model. Sgcem+/pGt (show SLCO2A1 Proteins) mice exhibited tiptoe walking (show ENPP1 Proteins) and occasional stimulus-induced appendicular flexion posturing preweanling. Adult Sgcem+/pGt (show SLCO2A1 Proteins) mice showed increased slips on a raised-beam task, anxiety-like behavioral abnormalities, and narrowed hindlimb stance widths.

2. The results suggest that varepsilon-sarcoglycan (show SGCD Proteins) in the cerebellar Purkinje cells contributes to the motor learning, while loss of varepsilon-sarcoglycan (show SGCD Proteins) in other brain regions may contribute to nuclear envelope abnormality, myoclonus and motor coordination deficits.

3. results suggest that the loss of epsilon-sarcoglycan in the striatum contributes to motor deficits, while it alone does not produce abnormal nuclear envelopes or myoclonus

4. impaired ectodomain shedding of M68T, a process that occurs physiologically for epsilon-sarcoglycan resulting in the lysosomal trafficking of the intracellular C-terminal domain of the protein. ( epsilon-sarcoglycan )

5. Sgca-;Sgce-null mouse shows a complete loss of residual sarcoglycans and a strong reduction in both dystrophin and dystroglycan.

6. Data describe mice carrying mutations in both Dyt1 (show TOR1A Proteins) and Sgce and show that these double mutant mice show earlier onset of motor deficits in beam-walking test.

7. Sgce gene is imprinted, with exclusive expression from the paternal allele.

8. These results suggest that the two epsilon-SG isoforms might play different roles in synaptic functions of the central nervous system.

9. High expression levels of epsilon-sarcoglycan mRNA and protein were found in the mitral cell layer of the olfactory bulb, the Purkinje cell layer in cerebellum, and the monoaminergic neurons in the mouse midbrain.

10. diverse symptoms associated with myoclonus-dystonia are indeed resulted from a single SGCE gene mutation that leads to alterations of dopaminergic and serotonergic systems.