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BSCL2 encodes the multi-pass transmembrane protein protein seipin. Zusätzlich bieten wir Ihnen BSCL2 Antikörper (38) und BSCL2 Kits (4) und viele weitere Produktgruppen zu diesem Protein an.
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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 Proteine) 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 Proteine)) 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 Proteine), which has a role in lipid accumulation and adipogenic differentiation
Seipin deficiency in astrocytes increases GSK3beta activity and levels of IL-6 (zeige IL6 Proteine) and TNF-alpha (zeige TNF Proteine) through reducing PPARgamma (zeige PPARG Proteine), 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 permeability, amplifying ER stress and increasing glucose levels, as well as decreasing leptin (zeige LEP Proteine) and adiponectin levels, indicating that seipin may be a potential therapeutic target for stroke.
The results indicate that, by reducing PPARgamma (zeige PPARG Proteine), 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.
The present study provides in vivo evidence that neuronal seipin deficiency leads to spatial cognitive deficits thtat can be rescued by the activation of PPARgamma (zeige PPARG Proteine).
spermatid apoptosis, increased chromocenter fragmentation, abnormal acrosome formation, and defective mitochondrial activity contributed to decreased sperm production and defective sperm that resulted in Bscl2-/- male infertility.
Bscl2(-/-) females have accelerated postnatal mammary ductal development but delayed vaginal opening; they display segregated responses in mammary gland development and vaginal opening to prepubertal genistein treatment.
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