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BSCL2 encodes the multi-pass transmembrane protein protein seipin.
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In this Chinese Han population the novel Charcot-Marie-Tooth disease-associated gene mutations BSCL2 was discovered.
Mutation in BSCL2 gene is associated with Type 2 congenital generalized lipodystrophy.
These data identify SEIPIN as an evolutionarily conserved regulator of microsomal GPAT.
We identified a novel BSCL2 mutation, c.213-1336_c.294 + 1921delinsCA, which is expected to result in p.Thr72Cysfs*2, among classical Berardinelli-Seip syndrome patients in northern Peru. This null mutation was shared by five patients from two pedigrees, indicating the presence of a founder mutation.
Results provide evidence that the hepatic BSCL2 deficiency induces the increase and expansion of lipid droplets potentially via increased SCD1 (zeige SCD ELISA Kits) activity.
results suggest that Celia seipin is probably playing an underestimated role in adipocyte maturation, but not in senescence, and its expression can be modified by exogenous factors as fatty acids.
Data show that all three patients exhibited characteristic features of congenital generalized lipodystrophy (CGL (zeige MGAT1 ELISA Kits)) due to mutations in the Bernardinelli-Seip congenital (BSCL2) gene.
Together, these data suggest that seipin helps to connect newly formed lipid droplets to the endoplasmic reticulum and that by stabilizing endoplasmic reticulum-lipid droplet contacts seipin facilitates the incorporation of protein and lipid cargo into growing lipid droplets in human cells.
Increased aggregation and subsequent impaired oligomerization of Celia seipin leads to cell death. In heterozygous carriers, wildtype seipin might prevent the damage caused by mutant seipin through its sequestration into harmless mixed oligomers.
BSCL2 defines the localization of adipose differentiation-related protein (zeige PLIN2 ELISA Kits), which has a role in lipid accumulation and adipogenic differentiation
there is a potential role of seipin in regulating autophagy in uterine luminal epithelium but not myometrium
we show that seipin knockdown had very little effect on adipocyte differentiation without affecting insulin (zeige INS ELISA Kits) sensitivity and oxygen consumption.
Although the severity of adipose loss in female and male Seipin(-/-)apoE (zeige APOE ELISA Kits)(-/-) mice were similar, hyperlipidemia, steatohepatitis and atherosclerosis were less severe in females than in males.
Seipin deficiency in astrocytes increases GSK3beta activity and levels of IL-6 (zeige IL6 ELISA Kits) and TNF-alpha (zeige TNF ELISA Kits) through reducing PPARgamma (zeige PPARG ELISA Kits), which can facilitate Abeta25-35/1-42-induced neuroinflammation to cause the death of neuronal cells and cognitive deficits.
Study found more nuclei positive for SEIPIN than shown using in situ hybridization and confirmed the presence of SEIPIN in neurons projecting to the spinal cord.
Findings reveal a key cell-autonomous role for BSCL2 in controlling brown adipose tissue mass and activity.
Our findings reveal that seipin knockout exacerbates cerebral I/R-induced damages by increasing BBB (zeige ALMS1 ELISA Kits) permeability, amplifying ER stress and increasing glucose levels, as well as decreasing leptin (zeige LEP ELISA Kits) and adiponectin levels, indicating that seipin may be a potential therapeutic target for stroke.
The results indicate that, by reducing PPARgamma (zeige PPARG ELISA Kits), seipin deficiency impairs proliferation and differentiation of neural stem and progenitor cells.
Authors generated adipose tissue (mature) Bscl2 knockout (Ad-mKO) mice to investigate the impact of acquired Bscl2 deletion on adipose tissue function and energy balance.
This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).
Bernardinelli-Seip congenital lipodystrophy type 2 protein
, Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
, bernardinelli-Seip congenital lipodystrophy type 2 protein homolog
, G protein gamma 3 linked