ATP Binding Cassette Transporter A3 (ABCA3) ELISA Kits

Human ATP Binding Cassette Transporter A3 (ABCA3) interaction partners

1. Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).

2. Mutations in SFTPC, NKX2.1, and FOXF1 were identified among Japanese infants and children with childhood interstitial lung disease, whereas ABCA3 mutations were rare.

3. The aim of this study was to prove that disease causing misfolding ABCA3 mutations can be corrected in vitro and to investigate available options for correction.

4. Our results showed that the allele frequency of p.G1205R, but not p.L39V, was significantly higher in ILD patients than in healthy controls. However, no additional subject carrying the variant p.S828F or p.V968M was detected in the cohort analysis. These results indicate that the heterozygous ABCA3 gene variants may contribute to susceptibility to diseases in the Chinese population.

5. a mutation (E292V) located in the first cytoplasmic loop of ABCA3 did not significantly affect lipid transport, but rather resulted in smaller vesicles. In addition to these findings, the assay used in this work for analysing the PC-lipid transport into ABCA3 positive vesicles will be useful to screen for compounds susceptible to restore function in mutated ABCA3 protein.

6. Understanding the relationship between cholesterol and inflammation in the lung, and the role that ABC transporters play in this may illuminate new pathways to target for the treatment of inflammatory lung diseases

7. two ABCA3 mutations (p.R288K and p.R1474W) identified among term and late-preterm infants with respiratory distress syndrome, were characterized.

8. 1153 patients with diffuse parenchymal lung disease (DPLD) were registered in the KLR. The DNA of 242 of these patients was sequenced for ABCA3 mutations. 69 patients had at least one variation in the ABCA3 gene. Of 40 patients with two disease-causing ABCA3 mutations, 22 patients were homozygous and 18 heterozygous.

9. Genes ABCC7, A3, A8, A12, and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels.

10. transporter oligomerization is crucial for ABCA3 function.

11. The TGGAG haplotype may be a risk factor for Respiratory Distress Syndrome in preterm infants in this Chinese population. The haplotype TGGAG was significantly more frequent in RDS infants than in non-RDS infants.

12. Rare mutations in surfactant-associated genes contribute to neonatal respiratory distress syndrome. We resequenced all exons of the ATP-binding cassette member A3 (ABCA3) and we found three ABCA3 mutations in the Han [minor allele frequency (MAF)=0.003] and 7 in the Zhuang (MAF=0.011) cohorts. The contribution of these rare ABCA3 mutations to disease burden in the south China population is still unknown.

13. The clinical features of ABCA3 mutations, including onset, severity or clinical course are very heterogeneous. In the two siblings we had a lightly discordant course that could be explained by exposure to different environmental stresses or variable penetrance.

14. These results provide evidence of ABCA3 as an MLF efflux transporter in human macrophages and support its role in the direct antileishmanial effect of this alkylphosphocholine drug.

15. Studies indicate that ATP-binding cassette (ABC), subfamily A, member 3 (ABCA3) is developmentally regulated.

16. Data discussed the structural features of ABCA3 and how the use of bioinformatics tools could help researchers to obtain a reliable structural model to locate relevant mutations and make genotype/phenotype correlations of affected patients. [review]

17. SLCO1B3 699GG and 344TT genotypes are associated with non-response to IM, while ABCA3 4548-91 CC/CA genotypes are related to poor CMR in CML patients treated with standard-dose imatinib.

18. Accumulation of free cholesterol as a result of a loss of ABCA3 export function represents a novel pathomechanism in ABCA3-induced Diffuse parenchymal lung disease.

19. Report of ABCA3 mutations in a family with one child exhibiting interstitial lung disease.

20. We identified a cataract-microcornea syndrome (cmcc) associated gene, ABCA3, which had heterozygous missense mutations in two autosomal dominant CCMC families. Another four heterozygous mutations, 2 missense and 2 splice site mutations were identified.

Mouse (Murine) ATP Binding Cassette Transporter A3 (ABCA3) interaction partners

1. mAbca3-rNeo mice demonstrated allele-dependent susceptibility to bleomycin including enhanced weight loss, augmented airspace destruction, and increased fibrosis

2. Abca3 haploinsufficiency results in an altered biochemical and lung mechanical phenotype, as well as a greater lung injury induced by hyperoxia or mechanical ventilation.

3. The majority of mice in which Abca3 was deleted in alveolar type II cells died shortly after birth from respiratory distress related to surfactant deficiency.

4. Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3

5. showed for the first time expression and subcellular localization of abcb11 and abca3 in mouse kidney

6. Plays an essential role in pulmonary surfactant lipid metabolism and lamellar body biogenesis, probably by transporting these lipids as substrates.

7. ABCA3 is necessary for lamellar body biogenesis, surfactant protein-B processing, and lung development late in gestation.

8. The phenotype of respiratory failure immediately after birth corresponds to the clinical course of severe ABCA3 mutations in human newborns.

9. Abca3 gene expression is mediated by discrete cis-acting cassettes that mediate pulmonary cell- and lipid-sensitive pathways regulating surfactant homeostasis.

10. Iportance of a functional catalytic cycle in lipid transport of ABCA3 suggestsa pathophysiological mechanism of pediatric intterstitial lung disease due to ABCA3 mutation.