ABCA3

Summary

Gene Symbol: ABCA3
Description: ATP binding cassette subfamily A member 3
Alias: ABC-C, ABC3, EST111653, LBM180, SMDP3, ATP-binding cassette sub-family A member 3, ABC transporter 3, ABC-C transporter, ATP-binding cassette transporter 3, ATP-binding cassette, sub-family A (ABC1), member 3
Species: human
Products:     ABCA3

Top Publications

  1. Hamvas A, Cole F, Nogee L. Genetic disorders of surfactant proteins. Neonatology. 2007;91:311-7 pubmed
    ..Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and ..
  2. Wert S, Whitsett J, Nogee L. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 2009;12:253-74 pubmed publisher
    Mutations in the genes encoding the surfactant proteins B and C (SP-B and SP-C) and the phospholipid transporter, ABCA3, are associated with respiratory distress and interstitial lung disease in the pediatric population...
  3. Matsumura Y, Sakai H, Sasaki M, Ban N, Inagaki N. ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells. FEBS Lett. 2007;581:3139-44 pubmed
    b>ABCA3 is proposed to function as a lung surfactant lipid transporter. Here we report ABCA3-dependent lipid uptake into intracellular vesicles in lung adenocarcinoma A549 cells...
  4. Saugstad O, Hansen T, Rønnestad A, Nakstad B, Tølløfsrud P, Reinholt F, et al. Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease. Acta Paediatr. 2007;96:185-90 pubmed
    To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene.
  5. Yamano G, Funahashi H, Kawanami O, Zhao L, Ban N, Uchida Y, et al. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett. 2001;508:221-5 pubmed
    The ABCA3 gene, of the ABCA subclass of ATP-binding cassette (ABC) transporters, is expressed exclusively in lung. We report here the cloning, molecular characterization, and distribution of human ABCA3 in the lung...
  6. Matsumura Y, Ban N, Ueda K, Inagaki N. Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem. 2006;281:34503-14 pubmed
    The ATP-binding cassette transporter ABCA3 is expressed predominantly at the limiting membrane of the lamellar bodies in lung alveolar type II cells...
  7. Engelbrecht S, Kaltenborn E, Griese M, Kern S. The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles. FEBS Lett. 2010;584:4306-12 pubmed publisher
    b>ABCA3 mutations cause fatal surfactant deficiency and interstitial lung disease. ABCA3 protein is a lipid transporter indispensible for surfactant biogenesis and storage in lamellar bodies (LB)...
  8. Nagata K, Yamamoto A, Ban N, Tanaka A, Matsuo M, Kioka N, et al. Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. Biochem Biophys Res Commun. 2004;324:262-8 pubmed
    b>ABCA3 is highly expressed at the membrane of lamellar bodies in alveolar type II cells, in which pulmonary surfactant is stored. ABCA3 gene mutations cause fatal surfactant deficiency in newborns...
  9. van Moorsel C, Van Oosterhout M, Barlo N, de Jong P, van der Vis J, Ruven H, et al. Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. Am J Respir Crit Care Med. 2010;182:1419-25 pubmed publisher
    ..with idiopathic pneumonias, whereas cocarriage of a mutation in ATP-binding cassette subfamily A member 3 (ABCA3) was postulated to have a disease-modifying effect...

More Information

Publications93

  1. Chapuy B, Koch R, Radunski U, Corsham S, Cheong N, Inagaki N, et al. Intracellular ABC transporter A3 confers multidrug resistance in leukemia cells by lysosomal drug sequestration. Leukemia. 2008;22:1576-86 pubmed publisher
    ..Analyzing the intrinsic drug efflux capacity of leukemic stem cells, we found the ABC transporter A3 (ABCA3) to be expressed consistently in acute myeloid leukemia (AML) samples...
  2. Crossno P, Polosukhin V, Blackwell T, Johnson J, Markin C, Moore P, et al. Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC. Chest. 2010;137:969-73 pubmed publisher
    ..daughters (aged 39 and 43 years) was sequenced for the I73T mutation and variations in ATP-binding cassette A3 (ABCA3). All three had the I73T SFTPC mutation...
  3. Doan M, Guillerman R, Dishop M, Nogee L, Langston C, Mallory G, et al. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax. 2008;63:366-73 pubmed
    Mutations in the ABCA3 gene can result in fatal surfactant deficiency in term newborn infants and chronic interstitial lung disease in older children...
  4. Garmany T, Wambach J, Heins H, Watkins Torry J, Wegner D, Bennet K, et al. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res. 2008;63:645-9 pubmed publisher
    ..We resequenced the ATP-binding cassette member A3 gene (ABCA3) in E292V carriers and computationally inferred ABCA3 haplotypes...
  5. Shulenin S, Nogee L, Annilo T, Wert S, Whitsett J, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med. 2004;350:1296-303 pubmed
    ..The gene for ATP-binding cassette transporter A3 (ABCA3) is expressed in alveolar type II cells, and the protein is localized to lamellar bodies, suggesting that it has ..
  6. Weichert N, Kaltenborn E, Hector A, Woischnik M, Schams A, Holzinger A, et al. Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells. Respir Res. 2011;12:4 pubmed publisher
    b>ABCA3 transporter (ATP-binding cassette transporter of the A subfamily) is localized to the limiting membrane of lamellar bodies, organelles for assembly and storage of pulmonary surfactant in alveolar epithelial type II cells (AECII)...
  7. Kaltenborn E, Kern S, Frixel S, Fragnet L, Conzelmann K, Zarbock R, et al. Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation. Hum Mol Genet. 2012;21:2793-806 pubmed publisher
    ATP-binding cassette transporter A3 (ABCA3) is a lipid transporter active in lung alveolar epithelial type II cells (ATII) and is essential for their function as surfactant-producing cells...
  8. Connors T, Van Raay T, Petry L, Klinger K, Landes G, Burn T. The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. Genomics. 1997;39:231-4 pubmed
    ..The gene for this novel protein, human ABC3, maps near the polycystic kidney disease type 1 (PKD1) gene on chromosome 16p13.3...
  9. Bruder E, Hofmeister J, Aslanidis C, Hammer J, Bubendorf L, Schmitz G, et al. Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation. Mod Pathol. 2007;20:1009-18 pubmed
    ..to involve mutations in the genes encoding surfactant protein-B or ATP-binding cassette transporter family member ABCA3. The lipid transporter ABCA3 targets surfactant phospholipids to lamellar bodies that are lysosomal-derived ..
  10. Bullard J, Nogee L. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res. 2007;62:176-9 pubmed
    ..The underlying mechanisms for this variability are unknown. Recently, mutations in ABCA3 (encoding member A3 of the adenosine triphosphate-binding cassette family of transporters) were identified as a ..
  11. Flamein F, Riffault L, Muselet Charlier C, Pernelle J, Feldmann D, Jonard L, et al. Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. Hum Mol Genet. 2012;21:765-75 pubmed publisher
    b>ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis...
  12. Mulugeta S, Gray J, Notarfrancesco K, Gonzales L, Koval M, Feinstein S, et al. Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. J Biol Chem. 2002;277:22147-55 pubmed
    ..antibody (3C9) that recognizes a unique protein of the lamellar body membrane of 180 kDa, which we named LBM180. We report that mass spectrometry of the protein precipitated by this antibody generated a partial sequence that ..
  13. Steinbach D, Gillet J, Sauerbrey A, Gruhn B, Dawczynski K, Bertholet V, et al. ABCA3 as a possible cause of drug resistance in childhood acute myeloid leukemia. Clin Cancer Res. 2006;12:4357-63 pubmed
    ..Multidrug resistance can be caused by ATP-binding cassette (ABC) transporters that function as drug efflux pumps. The majority of these proteins have not yet been examined in malignant diseases...
  14. Klugbauer N, Hofmann F. Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein. FEBS Lett. 1996;391:61-5 pubmed
    ..The genomic clustering of both transporters, typical also for other members of the ABC family, supports the notion that ABC-C may be involved in development of resistance to xenobiotics...
  15. Gower W, Wert S, Ginsberg J, Golan A, Whitsett J, Nogee L. Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations. J Pediatr. 2010;157:62-8 pubmed publisher
    To test the hypothesis that some functionally significant variants in the gene encoding member A3 of the ATP Binding Cassette family (ABCA3) are not detected using exon-based sequencing approaches.
  16. Cheong N, Madesh M, Gonzales L, Zhao M, Yu K, Ballard P, et al. Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome. J Biol Chem. 2006;281:9791-800 pubmed
    ..Mutations in ABCA3, a member of the ABCA subfamily with unknown function, lead to fatal respiratory distress syndrome (RDS) in the ..
  17. Bullard J, Wert S, Whitsett J, Dean M, Nogee L. ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med. 2005;172:1026-31 pubmed
    b>ABCA3 is a member of the ATP-binding cassette family of proteins that mediate the translocation of a wide variety of substrates, including lipids, across cellular membranes...
  18. Haessler F, Gaese F, Huss M, Kretschmar C, Brinkman M, Peters H, et al. Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study. BMC Psychiatry. 2016;16:318 pubmed publisher
    ..Further recommendations include multimodal and multi-professional management that is tailored to the individual patient's needs. The ClinTrials.gov identifier is NCT01711606 . Registered on 18 October 2012. ..
  19. Lin W, Huang J, Liao X, Yuan Z, Feng S, Xie Y, et al. Neo-tanshinlactone selectively inhibits the proliferation of estrogen receptor positive breast cancer cells through transcriptional down-regulation of estrogen receptor alpha. Pharmacol Res. 2016;111:849-858 pubmed publisher
    ..mRNA levels of target genes of this transcription factor, such as ESR2, BRCA1, CCND1, GREB1, TFF1, SERPINB9 and ABCA3. Furthermore, analysis of heterogeneous nuclear RNA (hnRNA) demonstrated that neo-tanshinlactone inhibited ESR1 ..
  20. Fino K, Yang L, Silveyra P, Hu S, Umstead T, Diangelo S, et al. SH3GLB2/endophilin B2 regulates lung homeostasis and recovery from severe influenza A virus infection. Sci Rep. 2017;7:7262 pubmed publisher
    ..Compared to WT mice, the B2-deficient lungs exhibited induction of genes that express surfactant proteins, ABCA3, GM-CSF, podoplanin, and caveolin mRNA after 7 days, temporal induction of CCAAT/enhancer binding protein CEBPα,..
  21. van der Deen M, de Vries E, Timens W, Scheper R, Timmer Bosscha H, Postma D. ATP-binding cassette (ABC) transporters in normal and pathological lung. Respir Res. 2005;6:59 pubmed
    ..fibrosis transmembrane conductance regulator (CFTR) gene can cause cystic fibrosis, and mutations in ABCA1 and ABCA3 are responsible for respectively Tangier disease and fatal surfactant deficiency...
  22. Mulugeta S, Nureki S, Beers M. Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease. Am J Physiol Lung Cell Mol Physiol. 2015;309:L507-25 pubmed publisher
    ..disease-related surfactant component mutations [surfactant proteins A and C (SP-A and SP-C); the lipid transporter ABCA3], this review will examine the concept of epithelial dysfunction in fibrotic lung disease, provide an update on ..
  23. Leprohon P, Legare D, Girard I, Papadopoulou B, Ouellette M. Modulation of Leishmania ABC protein gene expression through life stages and among drug-resistant parasites. Eukaryot Cell. 2006;5:1713-25 pubmed
    ..Two ABC genes (ABCA3 and ABCG3) are preferentially expressed in the amastigote stage, whereas one ABC gene (ABCF3) is more abundantly ..
  24. McGillick E, Orgeig S, Morrison J. Regulation of lung maturation by prolyl hydroxylase domain inhibition in the lung of the normally grown and placentally restricted fetus in late gestation. Am J Physiol Regul Integr Comp Physiol. 2016;310:R1226-43 pubmed publisher
    ..reabsorption (SCNN1-A, ATP1-A1, AQP-1, AQP-5), and surfactant maturation (SFTP-A, SFTP-B, SFTP-C, PCYT1A, LPCAT, ABCA3, LAMP3) in control fetuses...
  25. Prehm P, Schumacher U. Inhibition of hyaluronan export from human fibroblasts by inhibitors of multidrug resistance transporters. Biochem Pharmacol. 2004;68:1401-10 pubmed
  26. Harris A, Williams J. The Impact of a Horse Riding Intervention on the Social Functioning of Children with Autism Spectrum Disorder. Int J Environ Res Public Health. 2017;14: pubmed publisher
    ..These results indicate that the intervention improves some aspects of social functioning for children with ASD. ..
  27. Kröner C, Wittmann T, Reu S, Teusch V, Klemme M, Rauch D, et al. Lung disease caused by ABCA3 mutations. Thorax. 2017;72:213-220 pubmed publisher
    ..about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort...
  28. Kim W, Weickert C, Garner B. Role of ATP-binding cassette transporters in brain lipid transport and neurological disease. J Neurochem. 2008;104:1145-66 pubmed
    ..transcriptionally active ABC transporters in the human genome, we have focused on 13 transporters (ABCA1, ABCA2, ABCA3, ABCA4, ABCA7 and ABCA8; ABCB1 and ABCB4; ABCD1 and ABCD2; ABCG1, ABCG2, and ABCG4) for which there is evidence ..
  29. Zarbock R, Kaltenborn E, Frixel S, Wittmann T, Liebisch G, Schmitz G, et al. ABCA3 protects alveolar epithelial cells against free cholesterol induced cell death. Biochim Biophys Acta. 2015;1851:987-95 pubmed publisher
    ..A small fraction of DPLD cases can be genetically defined by mutations in certain genes, with ABCA3 being the gene most commonly affected...
  30. Chen Y, Wambach J, Depass K, Wegner D, Chen S, Zhang Q, et al. Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort. World J Pediatr. 2016;12:190-5 pubmed publisher
    ..We resequenced all exons of the surfactant proteins-B (SFTPB), -C (SFTPC), and the ATP-binding cassette member A3 (ABCA3) genes and compared the frequencies of 5 common and all rare variants...
  31. Wittmann T, Schindlbeck U, Höppner S, Kinting S, Frixel S, Kröner C, et al. Tools to explore ABCA3 mutations causing interstitial lung disease. Pediatr Pulmonol. 2016;51:1284-1294 pubmed publisher
    ..defined entities, mutations in the gene encoding the ATP-binding cassette (ABC), subfamily A, member 3 (ABCA3) lipid transporter represent the main cause of inherited surfactant dysfunction disorders, a subgroup of ILD...
  32. Griese M. Chronic interstitial lung disease in children. Eur Respir Rev. 2018;27: pubmed publisher
    ..Translational research has linked heterozygous mutations in the ABCA3 transporter to an increased risk of interstitial lung diseases, not only in neonates, but also in older children ..
  33. Besnard V, Xu Y, Whitsett J. Sterol response element binding protein and thyroid transcription factor-1 (Nkx2.1) regulate Abca3 gene expression. Am J Physiol Lung Cell Mol Physiol. 2007;293:L1395-405 pubmed
    The ATP-binding cassette (ABC) ABCA3 gene encodes a lipid transporter critical for surfactant function at birth...
  34. Piersigilli F, Peca D, Campi F, Corsello M, Landolfo F, Boldrini R, et al. New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3. Pediatr Int. 2015;57:970-4 pubmed publisher
    ..ATP-binding cassette A3 (ABCA3), a phospholipid carrier specifically expressed in the alveolar epithelium, is the most frequently involved ..
  35. Frixel S, Lotz Havla A, Kern S, Kaltenborn E, Wittmann T, Gersting S, et al. Homooligomerization of ABCA3 and its functional significance. Int J Mol Med. 2016;38:558-66 pubmed publisher
    b>ABCA3 is a surfactant lipid transporter in the limiting membrane of lamellar bodies in alveolar type II cells...
  36. Jeong H, Cui W, Yang Y, Lu J, He J, Li A, et al. SALL4, a stem cell factor, affects the side population by regulation of the ATP-binding cassette drug transport genes. PLoS ONE. 2011;6:e18372 pubmed publisher
    ..known to be mediated by members of the ATP-binding cassette (ABC) drug transport protein family, such as ABCG2 and ABCA3. Using chromatin-immunoprecipitation (ChIP), quantitative reverse transcription polymerase chain reaction (qRT-PCR)..
  37. Kinting S, Höppner S, Schindlbeck U, Forstner M, Harfst J, Wittmann T, et al. Functional rescue of misfolding ABCA3 mutations by small molecular correctors. Hum Mol Genet. 2018;27:943-953 pubmed publisher
    Adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3), a phospholipid transporter in lung lamellar bodies (LBs), is essential for the assembly of pulmonary surfactant and LB biogenesis...
  38. Feng D, Li Q, Yu H, Zhao X, Kong L. Comparative Transcriptome Analysis of the Pacific Oyster Crassostrea gigas Characterized by Shell Colors: Identification of Genetic Bases Potentially Involved in Pigmentation. PLoS ONE. 2015;10:e0145257 pubmed publisher
    ..gigas, respectively. Three genes of Abca1, Abca3 and Abcb1 which belong to the ATP-binding cassette (ABC) transporters super-families were significantly associated ..
  39. Matsumura Y, Ban N, Inagaki N. Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease. Am J Physiol Lung Cell Mol Physiol. 2008;295:L698-707 pubmed publisher
    The ATP-binding cassette transporter ABCA3 mediates uptake of choline-phospholipids into intracellular vesicles and is essential for surfactant metabolism in lung alveolar type II cells...
  40. Epaud R, Feldmann D, Guillot L, Clement A. [Lung diseases associated with inherited disorders of surfactant metabolism]. Arch Pediatr. 2008;15:1560-7 pubmed publisher
    ..such as surfactant protein C or implied in its metabolism, such as ATP-binding cassette, subfamily A, member 3 (ABCA3) and thyroid transcription factor 1 (TTF-1) were identified in newborns with respiratory distress as well as in ..
  41. Villanueva Toledo J, Ponciano Gómez A, Ortiz Sánchez E, Garrido E. Side populations from cervical-cancer-derived cell lines have stem-cell-like properties. Mol Biol Rep. 2014;41:1993-2004 pubmed publisher
    ..Interestingly, we identified no SP in the HPV-uninfected C-33A cell line, and it did not express ABCG2 or other members of the ABC transporters (ABCB1, ABCC1, or ABCA3).
  42. Ghaleiha A, Rasa S, Nikoo M, Farokhnia M, Mohammadi M, Akhondzadeh S. A pilot double-blind placebo-controlled trial of pioglitazone as adjunctive treatment to risperidone: Effects on aberrant behavior in children with autism. Psychiatry Res. 2015;229:181-7 pubmed publisher
    ..Vomiting and headache were the most frequent reported side-effects. Results of this preliminary study indicate positive effects of pioglitazone compared with placebo in improving the behavioral symptoms of AD. ..
  43. Chen P, Dai Y, Wu X, Wang Y, Sun S, Xiao J, et al. Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome. Invest Ophthalmol Vis Sci. 2014;55:8031-43 pubmed publisher
    ..115C>G, c.277G>A, and c.4393G>A) were identified in ATP-binding cassette protein A3 (ABCA3). At highly conserved positions, changes (c.115C>G and c...
  44. Pachajoa H, Ruiz Botero F, Meza Escobar L, Villota Delgado V, Ballesteros A, Padilla I, et al. Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report. J Med Case Rep. 2016;10:266 pubmed
    ..We report the case of patient with a homozygous intronic ABCA3 mutation...
  45. Besnard V, Matsuzaki Y, Clark J, Xu Y, Wert S, Ikegami M, et al. Conditional deletion of Abca3 in alveolar type II cells alters surfactant homeostasis in newborn and adult mice. Am J Physiol Lung Cell Mol Physiol. 2010;298:L646-59 pubmed publisher
    ATP-binding cassette A3 (ABCA3) is a lipid transport protein required for synthesis and storage of pulmonary surfactant in type II cells in the alveoli. Abca3 was conditionally deleted in respiratory epithelial cells (Abca3(?/?)) in vivo...
  46. Mourer T, Normant V, Labbé S. Heme Assimilation in Schizosaccharomyces pombe Requires Cell-surface-anchored Protein Shu1 and Vacuolar Transporter Abc3. J Biol Chem. 2017;292:4898-4912 pubmed publisher
    ..Inactivation of abc3+, encoding a vacuolar membrane transporter, results in hem1Δ abc3Δ mutant ..
  47. Hofmann N, Galetskiy D, Rauch D, Wittmann T, Marquardt A, Griese M, et al. Analysis of the Proteolytic Processing of ABCA3: Identification of Cleavage Site and Involved Proteases. PLoS ONE. 2016;11:e0152594 pubmed publisher
    b>ABCA3 is a lipid transporter in the limiting membrane of lamellar bodies in alveolar type II cells. Mutations in the ABCA3 gene cause respiratory distress syndrome in new-borns and childhood interstitial lung disease...
  48. Hallik M, Annilo T, Ilmoja M. Different course of lung disease in two siblings with novel ABCA3 mutations. Eur J Pediatr. 2014;173:1553-6 pubmed publisher
    Mutations in the gene for adenosine triphosphate-binding cassette transporter subfamily A member 3 (ABCA3) have been reported in infants and children with surfactant deficiency and interstitial lung disease...
  49. Sannar E, Palka T, Beresford C, Peura C, Kaplan D, Verdi M, et al. Sleep Problems and Their Relationship to Maladaptive Behavior Severity in Psychiatrically Hospitalized Children with Autism Spectrum Disorder (ASD). J Autism Dev Disord. 2017;: pubmed publisher
    ..Improved understanding of the relationship between sleep quality and maladaptive behavior in this challenging cohort of patients with ASD is vital to the definition and design of future effective interventions...
  50. Takano M, Yamamoto C, Yamaguchi K, Kawami M, Yumoto R. Analysis of TGF-β1- and drug-induced epithelial-mesenchymal transition in cultured alveolar epithelial cell line RLE/Abca3. Drug Metab Pharmacokinet. 2015;30:111-8 pubmed publisher
    ..growth factor (TGF)-β1 and drugs in genetically engineered type II alveolar epithelial cell line RLE/Abca3. Treatment of RLE/Abca3 cells with TGF-β1 induced marked changes in cell morphology from epithelial-like to ..
  51. Morgan B, Ezerina D, Amoako T, Riemer J, Seedorf M, Dick T. Multiple glutathione disulfide removal pathways mediate cytosolic redox homeostasis. Nat Chem Biol. 2013;9:119-25 pubmed publisher
    ..Applying these insights, we identify Trx2 and Grx2 as efficient backup systems to glutathione reductase for cytosolic GSSG reduction...
  52. Ban N, Sasaki M, Sakai H, Ueda K, Inagaki N. Cloning of ABCA17, a novel rodent sperm-specific ABC (ATP-binding cassette) transporter that regulates intracellular lipid metabolism. Biochem J. 2005;389:577-85 pubmed
    ..3% amino acid identity; mouse ABCA17 has amino acid identities of 55.3% and 36.7% with mouse ABCA3 and sea urchin ABCA respectively...
  53. Zhao L, Zhou C, Tanaka A, Nakata M, Hirabayashi T, Amachi T, et al. Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2. Biochem J. 2000;350 Pt 3:865-72 pubmed
    ..5%, 40.0% and 40.8% identity with mouse ABC1/ABCA1, human ABC3/ABCA3 and human ABCR/ABCA4 respectively...
  54. Beers M, Knudsen L, Tomer Y, Maronn J, Zhao M, Ochs M, et al. Aberrant lung remodeling in a mouse model of surfactant dysregulation induced by modulation of the Abca3 gene. Ann Anat. 2017;210:135-146 pubmed publisher
    The lipid transporter, ATP binding cassette class A3 (ABCA3), plays a critical role in the biogenesis of alveolar type 2 (AT2) cell lamellar bodies (LBs)...
  55. Mendoza Cózatl D, Zhai Z, Jobe T, Akmakjian G, Song W, Limbo O, et al. Tonoplast-localized Abc2 transporter mediates phytochelatin accumulation in vacuoles and confers cadmium tolerance. J Biol Chem. 2010;285:40416-26 pubmed publisher
    ..The S. pombe abc1 abc2 abc3 abc4 hmt1 quintuple and abc2 hmt1 double mutant show no detectable phytochelatins in vacuoles...
  56. Garmany T, Moxley M, White F, Dean M, Hull W, Whitsett J, et al. Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res. 2006;59:801-5 pubmed
    Mutations in the gene encoding the ATP binding cassette transporter member A3 (ABCA3) are associated with fatal surfactant deficiency...
  57. Naderi H, Murray J, Dagle J. Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks). Am J Med Genet A. 2014;164A:2676-8 pubmed publisher
  58. Campo I, Zorzetto M, Mariani F, Kadija Z, Morbini P, Dore R, et al. A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant. Respir Res. 2014;15:43 pubmed publisher
    ..To our knowledge, ABCA3 gene was not previously reported as causative agent of fibrosis affecting both children and adults in the same ..
  59. Wulf G, Modlich S, Inagaki N, Reinhardt D, Schroers R, Griesinger F, et al. ABC transporter ABCA3 is expressed in acute myeloid leukemia blast cells and participates in vesicular transport. Haematologica. 2004;89:1395-7 pubmed
    ..We determined the prevalence of the intracellular transporter ABCA3 in specimens from patients with AML, and addressed its biology with attention to intracellular compartmentalization...
  60. Winter J, Essmann S, Kidszun A, Aslanidis C, Griese M, Poplawska K, et al. Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options. Klin Padiatr. 2014;226:53-8 pubmed publisher
    Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease...
  61. Piehler A, Wenzel J, Olstad O, Haug K, Kierulf P, Kaminski W. The human ortholog of the rodent testis-specific ABC transporter Abca17 is a ubiquitously expressed pseudogene (ABCA17P) and shares a common 5' end with ABCA3. BMC Mol Biol. 2006;7:28 pubmed
    ..Recently, a novel testis-specific ABC A transporter, Abca17, has been cloned in rodent. In this study, we report the identification and characterization of the human ortholog of rodent Abca17...
  62. Park S, Amos L, Rao A, Quasney M, Matsumura Y, Inagaki N, et al. Identification and characterization of a novel ABCA3 mutation. Physiol Genomics. 2010;40:94-9 pubmed publisher
    Mutations in the gene coding for ATP-binding cassette protein A3 (ABCA3) are recognized as a genetic cause of lung disease of varying severity...
  63. Lu H, Xu Y, Cui F. Phylogenetic analysis of the ATP-binding cassette transporter family in three mosquito species. Pestic Biochem Physiol. 2016;132:118-24 pubmed publisher
    ..The highly expressed genes in larvae included three ABCA3 genes. The majority of the highly expressed genes in adults were ABCG1/4 genes...
  64. Paolini A, Baldassarre A, Del Gaudio I, Masotti A. Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3. Int J Mol Sci. 2015;16:19631-44 pubmed publisher
    In this review we reported and discussed the structural features of the ATP-Binding Cassette (ABC) transporter ABCA3 and how the use of bioinformatics tools could help researchers to obtain a reliable structural model of this important ..
  65. Benlhabib H, Guo W, Pierce B, Mendelson C. The miR-200 family and its targets regulate type II cell differentiation in human fetal lung. J Biol Chem. 2015;290:22409-22 pubmed publisher
    ..Importantly, overexpression of ZEB1 or miR-200 antagonists in HFL type II cells also inhibited LPCAT1 and ABCA3, enzymes involved in surfactant phospholipid synthesis and trafficking, and blocked lamellar body biogenesis...
  66. Shanklin D, Mullins A, Baldwin H. Cerebropulmonary dysgenetic syndrome. Exp Mol Pathol. 2008;85:112-6 pubmed publisher
    ..results in bronchopulmonary dysplasia from congenital surfactant deficiency due to mutants of transporter protein ABCA3. Association of this condition with other severe disorders in premature newborns has not heretofore been reported...
  67. Gonçalves J, Pinheiro L, Costa M, Silva A, Gonçalves A, Pereira A. Novel ABCA3 mutations as a cause of respiratory distress in a term newborn. Gene. 2014;534:417-20 pubmed publisher
    ..She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.
  68. Bao Y, Liu X, Chen J, Zheng Y. [A novel compound heterozygous mutation in ABCA3 gene in a child with diffuse parenchymal lung disease]. Zhonghua Er Ke Za Zhi. 2017;55:835-839 pubmed publisher
    ..characteristics of the diffuse parenchymal lung diseases in a child caused by a novel compound heterozygous ABCA3 mutation and explore the association between the phenotype and ABCA3 mutation...
  69. Moore G, Lines M, Geraghty M, de Nanassy J, Kovesi T. Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings. Am J Respir Crit Care Med. 2014;189:750-2 pubmed publisher
  70. Tian W, Chen X, Qin H, Wei Q, Zhang S, Tang S, et al. The Haplotype TGGAG in the ABCA3 Gene Increases the Risk of Respiratory Distress Syndrome in Preterm Infants in Southern China. Pediatr neonatol. 2016;57:188-94 pubmed publisher
    Rare mutations in the ATP-binding cassette (ABC) transporter A3 (ABCA3) gene are associated with neonatal respiratory distress syndrome (RDS)...
  71. Panigrahy N, Poddutoor P, Chirla D. ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome. Indian Pediatr. 2014;51:579-80 pubmed
    ..Surfactant protein abnormalities are rare causes of respiratory distress syndrome...
  72. Wambach J, Casey A, Fishman M, Wegner D, Wert S, Cole F, et al. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med. 2014;189:1538-43 pubmed publisher
    Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease. Most ABCA3 mutations are private.
  73. Wambach J, Wegner D, Depass K, Heins H, Druley T, Mitra R, et al. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics. 2012;130:e1575-82 pubmed publisher
    ..Neonatal respiratory distress syndrome (RDS) due to pulmonary surfactant deficiency is heritable, but common variants do not fully explain disease heritability...
  74. Jiang L, Wu Y, Xu X, Du L. Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants. Chin Med J (Engl). 2012;125:1594-8 pubmed
    Previous reports indicated that mutations in the adenosine triphosphate (ATP)-binding cassette transporter A3 (ABCA3) cause fatal respiratory failure in term infants, and common ABCA3 gene polymorphisms have been characterized at the ..
  75. Szczawińska Popłonyk A, Breborowicz A, Langfort R. [Interstitial lung disease associated with surfactant protein B and C deficiencies]. Pneumonol Alergol Pol. 2010;78:224-8 pubmed
    ..SP-C deficiency is determined by it's defective synthesis or impaired production of ABCA3 transporter, as well as with abnormalities within different metabolic pathways...
  76. Schimanski S, Wild P, Treeck O, Horn F, Sigruener A, Rudolph C, et al. Expression of the lipid transporters ABCA3 and ABCA1 is diminished in human breast cancer tissue. Horm Metab Res. 2010;42:102-9 pubmed publisher
    ATP-binding cassette transporters ABCA3 and ABCA1 are related to a differentiated, lipid-secreting phenotype of type II pneumocytes...
  77. Luo Y, Chen H, Ren S, Li N, Mishina Y, Shi W. BMP signaling is essential in neonatal surfactant production during respiratory adaptation. Am J Physiol Lung Cell Mol Physiol. 2016;311:L29-38 pubmed publisher
    ..accompanied by atelectasis in histopathology and significant reductions of surfactant protein B and C, as well as Abca3, whereas prenatal lung development was not significantly affected...
  78. Wambach J, Wegner D, Heins H, Druley T, Mitra R, Hamvas A, et al. Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. J Pediatr. 2014;164:1316-21.e3 pubmed publisher
    To determine whether synonymous variants in the adenosine triphosphate-binding cassette A3 transporter (ABCA3) gene increase the risk for neonatal respiratory distress syndrome (RDS) in term and late preterm infants of European and ..
  79. Kitazawa H, Moriya K, Niizuma H, Kawano K, Saito Nanjo Y, Uchiyama T, et al. Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations. Eur J Pediatr. 2013;172:953-7 pubmed publisher
    Mutations in genes critical for surfactant metabolism, including surfactant protein C (SP-C) and ABCA3, are well-recognized causes of interstitial lung disease...
  80. Patkar R, Xue Y, Shui G, Wenk M, Naqvi N. Abc3-mediated efflux of an endogenous digoxin-like steroidal glycoside by Magnaporthe oryzae is necessary for host invasion during blast disease. PLoS Pathog. 2012;8:e1002888 pubmed publisher
    ..oryzae. However, thus far, the molecular basis underlying impaired appressorial function in the abc3? remains elusive...
  81. Gulyas Kovacs A. Integrated analysis of residue coevolution and protein structure in ABC transporters. PLoS ONE. 2012;7:e36546 pubmed publisher
    ..Moreover, some identified pairs correspond to residues previously implicated in cystic fibrosis...
  82. Aung T, Chapuy B, Vogel D, Wenzel D, Oppermann M, Lahmann M, et al. Exosomal evasion of humoral immunotherapy in aggressive B-cell lymphoma modulated by ATP-binding cassette transporter A3. Proc Natl Acad Sci U S A. 2011;108:15336-41 pubmed publisher
    ..biogenesis is modulated by the lysosome-related organelle-associated ATP-binding cassette (ABC) transporter A3 (ABCA3)...
  83. Höppner S, Kinting S, Torrano A, Schindlbeck U, Bräuchle C, Zarbock R, et al. Quantification of volume and lipid filling of intracellular vesicles carrying the ABCA3 transporter. Biochim Biophys Acta. 2017;1864:2330-2335 pubmed publisher
    The ABCA3 lipid transporter is located in the limiting membrane of lamellar bodies (LBs) in type-II-pneumocytes...
  84. Karjalainen M, Haataja R, Hallman M. Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. Ann Med. 2008;40:56-65 pubmed publisher
    Adenosine triphosphate (ATP)-binding cassette transporter A3 (ABCA3) gene mutations cause fatal respiratory failure in term infants, but common ABCA3 polymorphisms have remained uncharacterized at the population level.