Recombinant Human Low-density lipoprotein receptor-related protein 5 (LRP5), partial

1. our results demonstrated an association of the T allele for the LRP5 4037C>T polymorphism with type 1 diabetes mellitus susceptibility in a Brazilian population, moreover the possible relation in the progressive failure of glycemic control. PMID: 30304114
2. This is the first study to report a group of patients with digenic familial exudative vitreoretinopathy (FEVR). In most affected eyes, the stage was more severe than stage 3. We speculate that the phenotype of FEVR is more severe in patients with digenic rather than monogenic variants of FEVR-related genes. PMID: 30097784
3. These findings expand the mutation spectrums of ABCA4 and LRP5, and will be valuable for genetic counseling and development of therapeutic interventions for patients with Familial exudative vitreoretinopathy. PMID: 29207047
4. 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. PMID: 28067456
5. The data do not support the hypothesis that HBM-causing LRP5 mutations, associated with increased Wnt 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. PMID: 28283687
6. In conclusion, the LRP5 mutation influences cell proliferation through the Wnt signaling pathway, thereby reducing the number of supporting cells and hair cells and leading to nonsyndromic hearing loss in this Chinese family. PMID: 28677207
7. LRP5 might be an important genetic marker contributing to bone mass accrual early in life. PMID: 28028632
8. We identified two novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del] using targeted NGS as a causative mutation for Familial exudative vitreoretinopathy (FEVR). PMID: 28867931
9. A novel heterozygous mutation (p.N198Y) in LRP5 was identified in a patient with significantly increased bone mineral density. PMID: 28893644
10. The presence of GIIA in the LRP5 complex pinpoints a potential functional connection with PRKCSH. Interestingly, all three PLD-associated protein complexes included filamin A (FLNA), a multifunctional protein described to play a role in ciliogenesis as well as canonical Wnt signalling. PMID: 28973524
11. Phenotypic variability was observed in the familial case and molecular analysis identified a novel homozygous c.1145C>T, p.(Pro382Leu) variant in both sibs. Homozygosity for the c.442C>T, p.(Gln148*) variant was also demonstrated in a separate case. PMID: 29131652
12. 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). PMID: 28139941
13. The detection rate for mutations in the three known genes was 23%. Mutations in LRP5 and TSPAN12 were more frequent, accounting for 10% and 8% PMID: 29181528
14. To our knowledge, these are the first two cases of the syndrome described in Italy. Genetic testing proved to be fundamental for definition of the syndrome and confirms the importance of early detection of LRP5 variants for management of systemic features of the disease in patients and carrier relatives. PMID: 28145787
15. VAP1 cleaved the extracellular region of LRP5. This cleavage removes four inhibitory beta-propeller structures, resulting in activation of LRP5/6. PMID: 28425175
16. wild-type and all five mutant LRP5 proteins were assayed for the ability to activate the Norrin/beta-catenin pathway by established luciferase reporter assays, and all mutants failed to activate the pathway. PMID: 28420620
17. This study did not identify LRP5 polymorphisms as a risk factor for osteoporosis in Thai menopausal women. PMID: 27582019
18. We identified four novel LRP5 missense mutations in these FEVR families: c.C1042T (p.R348W), c.G1141A (p.D381N), c.C1870T (p.R624W), and c.A4550G (p.Y1517C). All four of these LRP5 mutations led to significant reduction of enzymatic activity with response to NORRIN. Our findings expand the mutational spectrum of FEVR in the Indian population and provide some guidelines in clinical diagnosis. PMID: 27228167
19. In this study, the splice site mutation c.2827thorn1G > A found in LRP5 (603506) gene is thought to cause microphthalmia in this family. PMID: 28111184
20. A genetic evaluation of the known genes associated with familial exudative vitreoretinopathy (FEVR) revealed a novel variant in the LRP5 gene that co-segregated with the phenotype in the family. PMID: 27486893
21. Meta-analysis indicates that the LRP5 Ala1330Val polymorphism may not be correlated with fracture susceptibility. PMID: 27051030
22. Independently or combined with APOE, LRP5 polymorphisms may lead to dyslipidemia and are associated with generalized aggressive periodontitis. Dyslipidemia may be a risk indicator for generalized aggressive periodontitis in the Chinese population. Furthermore, two LRP5 polymorphisms (rs682429 and rs312016) might be useful for identifying subjects at higher risk of generalized aggressive periodontitis. PMID: 25329009
23. miR-23a plays an inhibitory role in osteogenic differentiation of hBMSCs, which may act by targeting LRP5 PMID: 26774446
24. The authors report a case of familial exudative vitreoretinopathy in the spectrum of osteoporosis pseudoglioma syndrome associated with novel mutations of the LRP5 and TSPAN12 genes that resulted in a phenotype similar to bilateral persistent fetal vasculature. PMID: 27007396
25. LRP5 is a novel anti-inflammatory macrophage marker that positively regulates migration, phagocytosis, lipid uptake and metabolism. PMID: 26739212
26. LRP5 is a signature of the anti-inflammatory defensive phenotype of macrophages. PMID: 26666179
27. we identified a total of four different LRP5 variants that were predicted to be pathogenic by in silico tools. One ADPKD patient has a positive family history for ADPKD and variant LRP5 segregated with the disease. PMID: 25920554
28. finding corroborates the relationship between LRP5 genotype and bone phenotype in postmenopausal women, however, the complete mechanism of this relationship requires further investigations. PMID: 25762437
29. This study show LRP5 polymorphism may associate with body composition and bone mineral density in Iranian children. PMID: 25515155
30. Lrp5 controls glucose uptake and growth of MDA-MB-231 human breast cancer cells. PMID: 26711269
31. Data show that LDL receptor-related protein 5 (LRP5) gain-of-function mutations do not activate beta-catenin signaling in osteoblasts. PMID: 26681532
32. Molecular testing identified biallelic lipoprotein receptor-related protein 5 (LRP5) mutations (NM_002335.3:c. [889dupA]; [2827 + 1G > A]) confirming a diagnosis of osteoporosis-pseudoglioma (OPPG) syndrome. PMID: 25945592
33. Lrp5 binds to Frizzled, preventing Frz-regulated non-canonical Wnt pathway activation and further non-canonical pathway-mediated tumour metastasis. PMID: 25902418
34. Reciprocally, a low bone mineral density-associated common LRP5 allele correlated with increased abdominal adiposity. PMID: 25651180
35. no association of single nucleotide polymorphisms and type 2 diabetes mellitus susceptibility in Chinese population PMID: 25863010
36. This is the first study to suggest the genetic influence of LRP5 A1330V polymorphism on bone mineral density in COPD patients, independent of the development of emphysema. PMID: 25392953
37. Although AFFs have been reported in other rare bone diseases, this is the first in a genetic condition of primary osteoblast dysfunction. The relatively low bone turnover observed, and knowledge of LRP5 function PMID: 25384351
38. No LRP5 variant was found to be associated with type 2 diabetes mellitus in Han Chinese, but haplotype TT was found to be associated with type 2 diabetes mellitus . PMID: 26248735
39. Serum levels of Wnt inhibitors are not changed in individuals with high bone mass causing mutations in LRP5. PMID: 24927689
40. Among the patients with pathogenic mutations detected, FZD4 mutations accounted for the largest proportion of autosomal inheritance FEVR cases (13/18 patients, 72.2%), followed by LRP5 (4/18 patients, 22.2%) and TSPAN12 (1/18 patients, 5.6%). PMID: 26244290
41. Our findings indicate that LRP5 plays an essential role in osteoarthritis cartilage destruction PMID: 24479426
42. mechanism of LRP protein action in the process of bone tissue metabolism and etiology of osteoporosis. PMID: 26117992
43. These results suggest that there is a modest effect of the LRP5 rs3736228 C>T on the increased susceptibility of bone fracture and osteoporosis. PMID: 25580429
44. These results underscore the significance of the LRP5 gene in bone metabolism and emphasize the significance of the replication of previous results in independent cohorts. PMID: 24337955
45. The Ala1330Val polymorphism in LRP5 is weakly associated with lower lumbar spine bone density in Tunisian post-menopausal women. PMID: 24885293
46. The A1330V polymorphism of LRP5 is possibly correlated with response to alendronate treatment in Chinese women. PMID: 24897288
47. evidence of lack of LRP5 mutations and of a putative HBM-causing mutation in DKK1 PMID: 24736728
48. Circulating plasma sclerostin concentrations are increased in both LRP5 and non-LRP5 High bone mass patients compared with controls. PMID: 24606091
49. LRP5 polymorphisms may be modestly associated with bone mineral density of the lumbar spine and the femur neck. PMID: 24376863
50. Two new novel LRP5 mutations in Chinese patients with familial exudative vitreoretinopathy and mild reduced bone mineral density, were identified. PMID: 24715757

Show More

Hide All

HGNC: 6697

OMIM: 133780

KEGG: hsa:4041

STRING: 9606.ENSP00000294304

UniGene: Hs.6347