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The extracellular domains of Lrp5/6 behave as physiologically relevant inhibitors of noncanonical Wnt (zeige WNT2 Proteine) signaling during Xenopus and mouse development in vivo.
Rescue experiments showed that LRP5 mutation is associated with hearing loss. (zeige WNT2 Proteine)Knocking down lrp5 in zebrafish results in reduced expression of several genes linked to Wnt signaling pathway and decreased cell proliferation when compared with those in wild-type zebrafish
Data show that in zebrafish, lrp5 also controls cell migration during early morphogenetic processes and contributes to shaping the craniofacial skeleton.
This is the first study to report a group of patients with digenic familial exudative vitreoretinopathy (FEVR (zeige NDP Proteine)). In most affected eyes, the stage was more severe than stage 3. We speculate that the phenotype of FEVR (zeige NDP Proteine) is more severe in patients with digenic rather than monogenic variants of FEVR (zeige NDP Proteine)-related genes.
These findings expand the mutation spectrums of ABCA4 (zeige ABCA4 Proteine) and LRP5, and will be valuable for genetic counseling and development of therapeutic interventions for patients with Familial exudative vitreoretinopathy.
Data suggest that the risk of type 2 diabetes mellitus (T2DM) may be associated with interactions between the low-density lipoprotein receptor-related protein 5 (LRP5) gene and overweight and obesity.
The data do not support the hypothesis that HBM-causing LRP5 mutations, associated with increased Wnt (zeige WNT2 Proteine) signaling, improve glucose metabolism in humans. However, it does appear that LRP5 variants may affect LDL metabolism, a major risk factor for coronary artery disease.
In conclusion, the LRP5 mutation influences cell proliferation through the Wnt (zeige WNT2 Proteine) signaling pathway, thereby reducing the number of supporting cells and hair cells and leading to nonsyndromic hearing loss in this Chinese family.
LRP5 might be an important genetic marker contributing to bone mass accrual early in life.
We identified two novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12 (zeige TSPAN12 Proteine), EX8Del] using targeted NGS as a causative mutation for Familial exudative vitreoretinopathy (FEVR (zeige NDP Proteine)).
A novel heterozygous mutation (p.N198Y) in LRP5 was identified in a patient with significantly increased bone mineral density.
The presence of GIIA in the LRP5 complex pinpoints a potential functional connection with PRKCSH (zeige PRKCSH Proteine). Interestingly, all three PLD-associated protein complexes included filamin A (FLNA (zeige FLNA Proteine)), a multifunctional protein described to play a role in ciliogenesis as well as canonical Wnt (zeige WNT2 Proteine) signalling.
LRP5 (rs556442) had a significant influence on trigylceride (TG) levels in unadjusted analysis and when adjusted for interacting factors. Higher TG levels were observed in AA/AG genotype of rs566442 in comparison to GG genotype (OR = 2.028, 95% CI = 0.997-4.127, p = 0.049).
Heterozygous deletion of the LRP5 gene in mice could alter the profile of the immune cells, influence the balance of immune environment, and modulate bone homeostasis.
Megakaryocytes are increased in the bone marrow of Lrp5G170V/G170V mice. Depletion of megakaryocytes does not affect the Lrp5-induced high bone mass.
The phenotype of the Lrp5(tvrm111B) mutant includes abnormalities of the retinal vasculature and of bone mineral density.
the LRP5 mutation in high bone mass transgenic mice shows altered bone matrix composition
Lrp6 (zeige LRP6 Proteine) is the key mediator of Wnt3a (zeige WNT3A Proteine) signaling in osteoblasts and Lrp5 played a less significant role in mediating Wnt3a (zeige WNT3A Proteine) signaling.
Identification of a link between Wnt (zeige WNT2 Proteine)-Lrp5 signaling and insulin (zeige INS Proteine) signaling in the osteoblast that has the potential to influence energy balance and compound the detrimental effects of a HFD on whole-body metabolism.
Lrp5(-/-) mice displayed significantly delayed retinal vascular development, absence of deep layer retinal vessels, leading to increased levels of vascular endothelial growth factor (zeige VEGF Proteine) and subsequent pathologic glomeruloid vessels, as well as decreased inner retinal visual function.
A mouse LRP5 ectodomain recombinant was cleaved by VAP1 (zeige AOC3 Proteine), creating a peptide, VAHLTGIHAVEE, detected by mass spectrometric analysis of the 140-kDa fragment, suggesting that the sessile bond by VAP1 (zeige AOC3 Proteine) is Glu1206-Val1207.
we revealed miR (zeige MLXIP Proteine)-375-3p negatively regulated osteogenesis by targeting LRP5 and beta-catenin (zeige CTNNB1 Proteine)
lung myeloid cells are responsive to Lrp5/beta-catenin (zeige CTNNB1 Proteine) signaling, leading to differentiation of an alveolar macrophage subtype that antagonizes the resolution of lung fibrosis.
This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy.
Lipoprotein Receptor Related Protein 5
, low density lipoprotein receptor-related protein 5
, low-density lipoprotein receptor-related protein 5
, low-density lipoprotein receptor-related protein 5-like
, low density lipoprotein receptor-related protein 7
, low-density lipoprotein receptor-related protein 7