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OSBPL1A encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. De plus, nous expédions Oxysterol Binding Protein-Like 1A Protéines (5) et beaucoup plus de produits pour cette protéine.
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Human Polyclonal OSBPL1A Primary Antibody pour ELISA, IHC (p) - ABIN250060
Lehto, Laitinen, Chinetti, Johansson, Ehnholm, Staels, Ikonen, Olkkonen: The OSBP-related protein family in humans. dans Journal of lipid research 2001
Show all 3 Pubmed References
ORP1L-VAP (Montrer F10 Anticorps) complexes also support transport of LDL-derived cholesterol from endosomes to the endoplasmic reticulum when ORP1L was bound to human adenovirus RIDalpha. RIDalpha-induced lipid trafficking also attenuated proinflammatory signaling by Toll-like receptor 4 (Montrer TLR4 Anticorps), which has a central role in adenovirus pathogenesis and is known to be tightly regulated by cholesterol-rich "lipid rafts."
Three XLRP families (RP-001, RP-002, and RP-003) were reported in this study, and 2 different disease-causing mutations were detected. We found 3 genetic variants: a novel mutation c.1591G>T in exon 14 and a novel polymorphism c.1105C>T in exon 10, resulting in p.Glu531* and p.Arg369Cys of RPGR (Montrer RPGR Anticorps) gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 (Montrer NUDT19 Anticorps) gene.
seven out of 27 families, displaying mutations in the ABCA4 (Montrer ABCA4 Anticorps), RP1 (Montrer STK19 Anticorps), RP2 (Montrer NUDT19 Anticorps) and USH2A (Montrer USH2A Anticorps) genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis
The L66P mutation in the first doublecortin (Montrer DCX Anticorps) domain of the Rp1 (Montrer STK19 Anticorps) gene impairs Rp1 (Montrer STK19 Anticorps) protein localization and function, leading to abnormalities in photoreceptor outer segment structure and progressive photoreceptor degeneration.
We suggest that arRP patients with high myopic refractive error should be preferentially analysed for RP1 (Montrer STK19 Anticorps) mutations.
it reports that different regions of RP1 (Montrer STK19 Anticorps) can also lead to arRCD.
Two novel heterozygous null mutations in RP1 (Montrer STK19 Anticorps) co-segregate with the disease in autosomal recessive retinitis pigmentosa patients.
RP1 (Montrer STK19 Anticorps) phosphorylation at Ser (Montrer SIGLEC1 Anticorps)(236) by CK2 (Montrer CSNK2A1 Anticorps) seems to play a significant role in cell adhesion and might initiate new insights in the CK2 (Montrer CSNK2A1 Anticorps) and EB1 (Montrer MAPRE2 Anticorps) family protein association.
Data found pathogenic DNA variants in the genes RP1 (Montrer STK19 Anticorps), USH2A (Montrer USH2A Anticorps), CNGB3 (Montrer CNGB3 Anticorps), NMNAT1 (Montrer NMNAT1 Anticorps), CHM (Montrer CHM Anticorps), and ABCA4 (Montrer ABCA4 Anticorps), responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia (Montrer CHM Anticorps), or recessive Stargardt/cone-rod dystrophy cases.
The most severe missense mutation occurred in patients with p.D984G in RP1 (Montrer STK19 Anticorps).
Osbpl1a silencing in macrophage foam cells enhances endosome motility and results in inhibition of [(3)H]cholesterol efflux to apolipoprotein A-I (Montrer APOA1 Anticorps).
OSBP (Montrer OSBP Anticorps) regulates hepatic TG metabolism and suggest the involvement of OSBP (Montrer OSBP Anticorps) in the insulin (Montrer INS Anticorps) signaling pathways that control hepatic lipogenesis.
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist\; they encode different isoforms.
OSBP-related protein 1
, oxysterol binding protein-like 1B
, oxysterol-binding protein-related protein 1
, oxysterol-binding protein-related protein 1 variant 1
, oxysterol-binding protein-related protein 1 variant 2
, oxysterol-binding protein-like 1A
, oxysterol binding protein-like 1A
, oxysterol binding protein-like protein 1A
, oxysterol-binding protein-related protein 1-like