Ask about this productRelated genes to: SGMS2 antibody
- Gene:
- SGMS2 NIH gene
- Name:
- sphingomyelin synthase 2
- Previous symbol:
- -
- Synonyms:
- MGC26963, SMS2
- Chromosome:
- 4q25
- Locus Type:
- gene with protein product
- Date approved:
- 2007-03-15
- Date modifiied:
- 2014-11-19
Related products to: SGMS2 antibody
Related articles to: SGMS2 antibody
- Sudden Unexpected Death in Epilepsy (SUDEP) refers to the unexplained, sudden death of individuals with epilepsy, and its incidence is closely linked to the severity and duration of seizures. This study aimed to identify plasma biomarkers associated with SUDEP through a combined proteomics and metabolomics approach. - Source: PubMed
Publication date: 2026/03/09
Zheng GaolinYang XinyanChen YinyuZhang PengNie Qianyun - Primary osteoporosis can be caused by pathogenic variants in multiple genes. Recently, rare heterozygous variants in , encoding , have been identified to cause early-onset osteoporosis or more severe skeletal dysplasia. The incidence of pathogenic variants and their consequent clinical features, however, remain limited. - Source: PubMed
Publication date: 2026/02/25
Loid PetraRichardt SampoNiinimäki TuukkaPekkinen MinnaMäkitie OutiMäkitie Riikka - Altered ceramide accumulation contributes to skeletal muscle insulin resistance, but mechanisms underlying fibre-type-specific susceptibility remain unclear. We hypothesized that fibre-type-specific ceramide metabolism governs vulnerability to lipid-induced insulin resistance. Lipidomics and quantification of ceramide-pathway enzymes were performed in mouse skeletal muscles with distinct fibre-type composition (oxidative, mixed and glycolytic) from control-diet (n = 12) and high-fat-diet (HFD; n = 12) mice. In humans, lipidomics and enzyme profiling were done in vastus lateralis biopsies from 36 adults stratified into oxidative or glycolytic phenotypes; insulin sensitivity was determined by glucose tolerance testing. siRNA-mediated silencing of SGMS1 and SGMS2 followed by lipidomics probed sphingomyelin-ceramide cycling in human myoblasts. In mouse muscle, ceramide composition rather than total content, differed by fibre type: oxidative muscle was enriched in very-long-chain ceramides, whereas glycolytic and mixed muscles contained higher C18-ceramides, paralleled by fibre-type-specific expression of enzymes involved in de novo synthesis and sphingomyelin-ceramide cycling. HFD induced ceramide remodelling, with C18-ceramides accumulating in oxidative and mixed muscles and very-long-chain species decreasing in glycolytic muscle; among all assessed enzymes, only SGMS2 was significantly downregulated in oxidative muscle. In humans, an oxidative phenotype associated with higher very-long-chain ceramides and insulin sensitivity, whereas a glycolytic phenotype displayed higher C16-18 ceramides, higher SGMS1 and SMPD2 expression, and lower insulin sensitivity. Elastic net regression identified C16-18 ceramides and galactosylceramides as negative predictors of insulin sensitivity. SGMS2 silencing caused broader ceramide accumulation than SGMS1 silencing, supporting a central role for SGMS2-mediated sphingomyelin-ceramide cycling in limiting ceramide burden. - Source: PubMed
Publication date: 2026/02/16
Eurén TovaFlockhart MikaelStrmeň TimotejZhou XinHorwath OscarApró WilliamBlackwood Sarah JTischer DominikMoberg MarcusSteneberg PärEdlund HelenaKatz AbramChorell Elin - : Pediatric osteoporosis is a multifactorial condition characterized by impaired bone mineralization and increased fracture risk, particularly vertebral compression fractures. This study aims to evaluate the diverse etiology, diagnostic challenges, and treatment options for pediatric osteoporosis in a cohort of affected children. : We reviewed eleven pediatric patients (aged 5-16 years) diagnosed with vertebral fractures and osteoporosis, who were hospitalized between 2020 and 2024 at the Department of Endocrinology and Metabolic Diseases at PMMH-RI in Lodz. Clinical evaluation included medical history, physical examination, biochemical markers of bone metabolism, and imaging techniques such as dual-energy X-ray absorptiometry (DXA) to determine underlying causes of bone fragility. : The cohort presented a broad etiological spectrum, including seven patients with genetic disorders (e.g., mutations in , , , and genes) and secondary osteoporosis due to chronic diseases requiring prolonged glucocorticoid therapy (two patients with Duchenne muscular dystrophy (DMD), one patient with Crohn's disease) or endocrinological disorders (one patient with Cushing disease). Vertebral fractures were confirmed in all patients, with back pain as the predominant symptom. Low bone mass (BMD Z-score < -2.0) was observed in eight individuals; in others, clinical signs of skeletal fragility were present despite Z-scores above this threshold. Mild biochemical abnormalities included hypercalciuria (3/11 cases) and vitamin D deficiency (6/11 cases). Height adjustment improved BMD interpretation in short-stature patients. Most children received bisphosphonate therapy, supplemented with calcium and vitamin D. In two patients, bisphosphonates were not used due to lack of parental consent or underlying conditions in which such treatment is not recommended. : Pediatric osteoporosis requires a multidisciplinary diagnostic and therapeutic approach, integrating clinical, biochemical, and genetic factors. It is a heterogeneous and often underrecognized condition, with vertebral fractures frequently serving as its earliest sign-even in the absence of overt symptoms or low bone mass. This underscores the need for clinical vigilance, as significant skeletal fragility may occur despite normal BMD values. Importantly, pediatric osteoporosis may also impact the attainment of peak bone mass and ultimately affect final adult height. Early diagnosis through thorough assessment, including height-adjusted DXA, and a multidisciplinary approach are essential to ensure timely management and prevent long-term complications. - Source: PubMed
Publication date: 2025/12/24
Aszkiełowicz SaraŁupińska AnnaMichałus IzabelaZygmunt ArkadiuszStawerska Renata - Although metabolic pathways profoundly influence disease behavior, osteosarcoma (OS) still lacks a glutamine metabolism-based framework for patient stratification. By integrating single-cell RNA sequencing with bulk cohorts, we delineated a glutamine-associated transcriptional program and translated it into an externally validated, clinically oriented risk model. After rigorous quality control and doublet removal, 19 clusters were annotated into 10 cell types. Glutamine metabolism-related gene (GRG) scores, quantified by five orthogonal algorithms (AUCell, UCell, singscore, ssGSEA, and AddModuleScore), revealed pronounced intratumoral heterogeneity, particularly within osteoblastic cells. A composite GRG score correlated with 641 genes, defining 188 differentially expressed genes; intersecting positively correlated and up-regulated genes yielded 91 candidates. Through a 10-fold cross-validated benchmark of 10 machine-learning algorithms and 101 combinations, Step-Cox [forward] + Ridge emerged as the optimal pipeline, producing a five-gene prognostic model (GPX7, COL11A2, CPE, MSMO1, SGMS2) with moderate yet reproducible performance in independent cohorts. Functionally, stable MSMO1 knockdown in U2OS cells suppressed proliferation, migration, and invasion; increased apoptosis; altered GS, GLS, and α-ketoglutarate; and dampened Wnt/β-catenin signaling. Clinically, the model stratifies OS patients into molecular risk subgroups with distinct outcomes, supporting identification of high-risk individuals and informing personalized glutamine-targeted or combination therapies. Mechanistically, glutamine metabolism shapes the OS tumor microenvironment by modulating immune-evasion and angiogenic cues, underscoring its dual role in metabolic adaptation and immune-metabolic crosstalk. Collectively, this study establishes a single-cell-anchored, glutamine-coupled state in OS, introduces an externally validated prognostic tool with translational promise but modest discriminative power, and positions MSMO1 as a metabolic-signaling node warranting further mechanistic and in-vivo investigation. - Source: PubMed
Publication date: 2025/11/28
Ma HuiZhang HaiyangBajgai JohnyRahman Md HabiburPham Thu ThaoMo ChaodengCao BuchanChoi Yeong-EunKim Cheol-SuLee Kyu-Jae