Ask about this productRelated genes to: SGCE antibody
- Gene:
- SGCE NIH gene
- Name:
- sarcoglycan epsilon
- Previous symbol:
- DYT11
- Synonyms:
- -
- Chromosome:
- 7q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-01-11
- Date modifiied:
- 2019-04-23
Related products to: SGCE antibody
Related articles to: SGCE antibody
- Mitophagy is essential for cancer formation and invasion, but its role in colorectal cancer (CRC) remains unclear. We obtained sequencing data and mitophagy-related genes (MP-RGs) from public databases. Differential expression analysis and weighted gene coexpression network analysis (WGCNA) identified mitophagy-related differentially expressed genes (DE-MPGs). Mendelian randomization (MR) analysis identified candidate genes with genetically supported causal relevance to CRC. Biomarkers were identified using machine learning, receiver operating characteristic (ROC) analysis and expression studies. Single-cell RNA sequencing (scRNA-seq) analyzed biomarker expression profiles in various CRC cell types. Quantitative PCR (qPCR) validated biomarker expression in clinical CRC samples. 147 DE-MPGs were identified. MR analysis revealed seven genes with potential causal contributions to CRC susceptibility. Three genes, SGCE (IVW: OR = 1.00041, p = 0.011), ATP8B2 (IVW: OR = 0.99920, p = 0.042), and RANGAP1 (IVW: OR = 0.99861, p = 0.002), were selected as biomarkers. Immune microenvironment and checkpoint differences were observed between CRC and controls. Biomarker expression varied among cell types. qPCR showed decreased SGCE and ATP8B2 and increased RANGAP1 in CRC. SGCE, ATP8B2, and RANGAP1 can serve as mitophagy-related biomarkers with genetically supported causal relevance to CRC, providing new insights for CRC diagnosis and therapy. - Source: PubMed
Zhao JingyiKong MengWang SiningCao ZhixinTian Xiangguo - Hyperkinetic movement disorders arise from dysfunction within cortico-basal ganglia-cerebellar loops. They frequently involve psychiatric and cognitive symptoms, reflecting impairment of both motor and non-motor domains within these loops. ADCY5 (MxMD-ADCY5) and SGCE (MYC/DYT-SGCE) related movement disorders are childhood-onset monogenic hyperkinetic conditions, both characterized by myoclonus, dystonia, and frequent psychiatric manifestations. Previous evidence suggests predominant basal ganglia involvement in MxMD-ADCY5 and cerebellar involvement in MYC/DYT-SGCE. - Source: PubMed
Publication date: 2026/04/30
Tarrano ClémentGalléa CécileEkmen AsyaDelorme CécileMcGovern Eavan MSalardaine QuentinDaghsen LinaGomes ManonBrochard VanessaMulroy EoinBhatia Kailash PFusco CarloCarecchio MiryamBrüggemann NorbertMünchau AlexanderGonzalez VictoriaDoummar DianeTranchant ChristineAnheim MathieuDamier PhilippeRiant FlorenceDoulazmi MohamedRoubertie AgatheDubacq CarolineTrouillard OrianeValabregue RomainDidier MélanieBeranger BenoitPouget PierreVidailhet MarieMeunier SabineMéneret AurélieWorbe YuliaRoze Emmanuel - The rising prevalence of opioid use during pregnancy poses serious public health concerns. The placenta is a critical organ during gestation, and opioid exposure can disrupt its function and fetal development. However, the molecular mechanisms through which opioids such as oxycodone affect feto-placental development remain poorly understood. This study aimed to investigate the effects of chronic in-utero oxycodone exposure on the composition and signaling functions of placenta-derived small extracellular vesicles (PSEVs) using a rat model. Extracellular vesicles (EVs) were isolated from placental tissue and characterized through nanoparticle tracking analysis, transmission electron microscopy, western blotting, and label-free quantitative proteomics. Bioinformatic enrichment analyses were conducted to evaluate changes in EVs biophysical properties and protein cargo. Chronic oxycodone exposure significantly altered PSEV characteristics, including particle size distribution and proteomic composition. Among the 456 identified EV proteins, 107 proteins were significantly dysregulated. We found key downregulatory proteins including Atp2a2, Lmna, Tgfb3, Agt, and Sgce, which are crucial for myocardial calcium cycling, nuclear integrity, extracellular matrix remodeling, and blood pressure regulation. These findings indicate disruptions in fetal cardiac programming, particularly hypertrophic and dilated cardiomyopathy pathways. Additionally, enrichment analyses revealed notable perturbations in metabolic processes (e.g., citrate cycle, fatty acid degradation, N-glycan biosynthesis), along with upregulation of vesicle transport and neurodevelopment-related proteins, indicating broader systemic effects on fetal development. While these proteomic findings are robust, further independent validation (e.g., via targeted assays or Western blotting) will be necessary to confirm individual protein-level changes. These results highlight PSEVs as sensitive molecular indicators linking maternal oxycodone use to disrupted fetal cardiovascular, metabolic, and neurodevelopmental pathways. This study provides a novel systems-level framework for understanding opioid-induced placental signaling alterations and lays the groundwork for developing EV-based diagnostic biomarkers and targeted interventions. - Source: PubMed
Publication date: 2026/02/10
Foroughi-Nezhad AminMoore DaliaSchaal Victoria LHediyal Tousif AhmedStone ElizabethKolli SreeAthota PranaviShukri OmarYelamanchili Sowmya VPendyala Gurudutt - Myoclonus-dystonia syndrome (MDS) is a clinically and genetically heterogeneous movement disorder characterized by myoclonus and dystonia as its core features. While mutations in the sarcoglycan gene (SGCE) account for most familial cases, heterozygous pathogenic variants in and have recently been described as novel genetic causes of MDS. e describe three patients from two Polish families presenting with progressive movement disorder combined with other features. Exome sequencing (ES) identified a novel heterozygous variant c.461 T > A, p.(Met154Lys) in a five-year-old girl with abnormal gait, postural instability, myoclonus, and tongue dyskinesia. In a 38-year-old woman and her 17-year-old daughter, both showing tremor, myoclonus, dystonia, and psychiatric symptoms, ES detected a heterozygous canonical splice-site c.1780-2A > G variant in . Neuropsychological evaluation suggested a gene-specific effect of on psychiatric and cognitive functioning, including significant episodic memory impairment. This study broadens the clinical and molecular spectrum of - and -related MDS and highlights distinctive features compared with -MDS, focusing on disease progression, treatment response, and neuropsychiatric involvement. Recognition of these patterns may guide molecular diagnosis and the management of specific MDS types. - Source: PubMed
Publication date: 2026/03/30
Krygier MagdalenaSitek Emilia JChylińska MagdalenaZiętkiewicz SzymonZawadzka MartaDulski JarosławSchinwelski MichałKostrzewa GrażynaWierzba JolantaPłoski RafałZech MichaelMazurkiewicz-Bełdzińska Maria - Myoclonus-dystonia (M-D) is a rare hyperkinetic movement disorder most commonly associated with mutations, while represents a less frequent but distinct genetic cause. - Source: PubMed
Publication date: 2026/04/09
Lin YunAoh YuLu Ming-Kuei