메뉴 건너뛰기




Volumn 43, Issue , 2015, Pages 913-919

ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system

Author keywords

Genetics; Interstitial lung disease; Neonate; Respiratory distress syndrome; Surfactant; Ultrastructure

Indexed keywords

ABC TRANSPORTER; ATP BINDING CASSETTE SUBFAMILY A MEMBER 3; AZITHROMYCIN; HYDROXYCHLOROQUINE; METHYLPREDNISOLONE; STAT3 PROTEIN; STEROL REGULATORY ELEMENT BINDING PROTEIN 1A; SURFACTANT; THYROID TRANSCRIPTION FACTOR 1; TRANSCRIPTION FACTOR GATA 6; UNCLASSIFIED DRUG; ABCA3 PROTEIN, HUMAN; LUNG SURFACTANT;

EID: 84947283829     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST20150100     Document Type: Article
Times cited : (27)

References (51)
  • 1
    • 84921531653 scopus 로고    scopus 로고
    • Composition, structure and mechanical properties define performance of pulmonary surfactant membranes and films
    • CrossRef PubMed
    • Parra, E. and Perez-Gil, J. (2015) Composition, structure and mechanical properties define performance of pulmonary surfactant membranes and films. Chem. Phys. Lipids 185, 153-175 CrossRef PubMed
    • (2015) Chem. Phys. Lipids , vol.185 , pp. 153-175
    • Parra, E.1    Perez-Gil, J.2
  • 3
    • 33646078329 scopus 로고    scopus 로고
    • ABC A-subfamily transporters: Structure, function and disease
    • CrossRef PubMed
    • Kaminski, W.E., Piehler, A. and Wenzel, J.J. (2006) ABC A-subfamily transporters: structure, function and disease. Biochim. Biophys. Acta 1762, 510-524 CrossRef PubMed
    • (2006) Biochim. Biophys. Acta , vol.1762 , pp. 510-524
    • Kaminski, W.E.1    Piehler, A.2    Wenzel, J.J.3
  • 5
    • 1642400686 scopus 로고    scopus 로고
    • ABCA3 gene mutations in newborns with fatal surfactant deficiency
    • CrossRef PubMed
    • Shulenin, S., Nogee, L.M., Annilo, T., Wert, S.E., Whitsett, J.A. and Dean, M. (2004) ABCA3 gene mutations in newborns with fatal surfactant deficiency. N. Engl. J. Med. 350, 1296-1303 CrossRef PubMed
    • (2004) N. Engl. J. Med. , vol.350 , pp. 1296-1303
    • Shulenin, S.1    Nogee, L.M.2    Annilo, T.3    Wert, S.E.4    Whitsett, J.A.5    Dean, M.6
  • 7
    • 49449110827 scopus 로고    scopus 로고
    • Intracellular ABC transporter A3 confers multidrug resistance in leukemia cells by lysosomal drug sequestration
    • CrossRef PubMed
    • Chapuy, B., Koch, R., Radunski, U., Corsham, S., Cheong, N., Inagaki, N., Ban, N., Wenzel, D., Reinhardt, D., Zapf, A. et al. (2008) Intracellular ABC transporter A3 confers multidrug resistance in leukemia cells by lysosomal drug sequestration. Leukemia 22, 1576-1586 CrossRef PubMed
    • (2008) Leukemia , vol.22 , pp. 1576-1586
    • Chapuy, B.1    Koch, R.2    Radunski, U.3    Corsham, S.4    Cheong, N.5    Inagaki, N.6    Ban, N.7    Wenzel, D.8    Reinhardt, D.9    Zapf, A.10
  • 8
    • 4544357153 scopus 로고    scopus 로고
    • Expression of ABCA3, a causative gene for fatal surfactant deficiency, is up-regulated by glucocorticoids in lung alveolar type II cells
    • CrossRef PubMed
    • Yoshida, I., Ban, N. and Inagaki, N. (2004) Expression of ABCA3, a causative gene for fatal surfactant deficiency, is up-regulated by glucocorticoids in lung alveolar type II cells. Biochem. Biophys. Res. Commun. 323, 547-555 CrossRef PubMed
    • (2004) Biochem. Biophys. Res. Commun. , vol.323 , pp. 547-555
    • Yoshida, I.1    Ban, N.2    Inagaki, N.3
  • 11
    • 37149051335 scopus 로고    scopus 로고
    • Sterol response element binding protein and thyroid transcription factor-1 (Nkx2.1) regulate Abca3 gene expression
    • CrossRef PubMed
    • Besnard, V., Xu, Y. and Whitsett, J.A. (2007) Sterol response element binding protein and thyroid transcription factor-1 (Nkx2.1) regulate Abca3 gene expression. Am. J. Physiol. Lung Cell Mol. Physiol. 293, L1395-L1405 CrossRef PubMed
    • (2007) Am. J. Physiol. Lung Cell Mol. Physiol. , vol.293 , pp. L1395-L1405
    • Besnard, V.1    Xu, Y.2    Whitsett, J.A.3
  • 12
    • 0037151018 scopus 로고    scopus 로고
    • Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3
    • CrossRef PubMed
    • Mulugeta, S., Gray, J.M., Notarfrancesco, K.L., Gonzales, L.W., Koval, M., Feinstein, S.I., Ballard, P.L., Fisher, A.B. and Shuman, H. (2002) Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. J. Biol. Chem. 277, 22147-22155 CrossRef PubMed
    • (2002) J. Biol. Chem. , vol.277 , pp. 22147-22155
    • Mulugeta, S.1    Gray, J.M.2    Notarfrancesco, K.L.3    Gonzales, L.W.4    Koval, M.5    Feinstein, S.I.6    Ballard, P.L.7    Fisher, A.B.8    Shuman, H.9
  • 14
    • 77957768713 scopus 로고    scopus 로고
    • The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles
    • CrossRef PubMed
    • Engelbrecht, S., Kaltenborn, E., Griese, M. and Kern, S. (2010) The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles. FEBS Lett 584, 4306-4312 CrossRef PubMed
    • (2010) FEBS Lett , vol.584 , pp. 4306-4312
    • Engelbrecht, S.1    Kaltenborn, E.2    Griese, M.3    Kern, S.4
  • 15
    • 4744347103 scopus 로고    scopus 로고
    • 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
    • CrossRef PubMed
    • Nagata, K., Yamamoto, A., Ban, N., Tanaka, A.R., Matsuo, M., Kioka, N., Inagaki, N. and Ueda, K. (2004) 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. 324, 262-268 CrossRef PubMed
    • (2004) Biochem. Biophys. Res. Commun. , vol.324 , pp. 262-268
    • Nagata, K.1    Yamamoto, A.2    Ban, N.3    Tanaka, A.R.4    Matsuo, M.5    Kioka, N.6    Inagaki, N.7    Ueda, K.8
  • 16
    • 34250825319 scopus 로고    scopus 로고
    • ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells
    • CrossRef PubMed
    • Matsumura, Y., Sakai, H., Sasaki, M., Ban, N. and Inagaki, N. (2007) ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells. FEBS Lett 581, 3139-3144 CrossRef PubMed
    • (2007) FEBS Lett , vol.581 , pp. 3139-3144
    • Matsumura, Y.1    Sakai, H.2    Sasaki, M.3    Ban, N.4    Inagaki, N.5
  • 17
    • 33947182006 scopus 로고    scopus 로고
    • ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol
    • CrossRef PubMed
    • Fitzgerald, M.L., Xavier, R., Haley, K.J., Welti, R., Goss, J.L., Brown, C.E., Zhuang, D.Z., Bell, S.A., Lu, N., McKee, M. et al. (2007) ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol. J. Lipid. Res. 48, 621-632 CrossRef PubMed
    • (2007) J. Lipid. Res. , vol.48 , pp. 621-632
    • Fitzgerald, M.L.1    Xavier, R.2    Haley, K.J.3    Welti, R.4    Goss, J.L.5    Brown, C.E.6    Zhuang, D.Z.7    Bell, S.A.8    Lu, N.9    McKee, M.10
  • 18
    • 34250646618 scopus 로고    scopus 로고
    • Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies
    • CrossRef PubMed
    • Hammel, M., Michel, G., Hoefer, C., Klaften, M., Muller-Hocker, J., de Angelis, M.H. and Holzinger, A. (2007) Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies. Biochem. Biophys. Res. Commun. 359, 947-951 CrossRef PubMed
    • (2007) Biochem. Biophys. Res. Commun. , vol.359 , pp. 947-951
    • Hammel, M.1    Michel, G.2    Hoefer, C.3    Klaften, M.4    Muller-Hocker, J.5    De Angelis, M.H.6    Holzinger, A.7
  • 23
    • 83155173477 scopus 로고    scopus 로고
    • Case records of the Massachusetts General Hospital. Case 37-2011. A 9-month-old boy with recurrent tachypnea and respiratory distress
    • CrossRef PubMed
    • Kinane, T.B., Shailam, R. and Mark, E.J. (2011) Case records of the Massachusetts General Hospital. Case 37-2011. A 9-month-old boy with recurrent tachypnea and respiratory distress. N. Engl. J. Med. 365, 2221-2228 CrossRef PubMed
    • (2011) N. Engl. J. Med. , vol.365 , pp. 2221-2228
    • Kinane, T.B.1    Shailam, R.2    Mark, E.J.3
  • 28
    • 84893461810 scopus 로고    scopus 로고
    • Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations
    • CrossRef PubMed
    • Epaud, R., Delestrain, C., Louha, M., Simon, S., Fanen, P. and Tazi, A. (2014) Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. Eur. Respir. J. 43, 638-641 CrossRef PubMed
    • (2014) Eur. Respir. J. , vol.43 , pp. 638-641
    • Epaud, R.1    Delestrain, C.2    Louha, M.3    Simon, S.4    Fanen, P.5    Tazi, A.6
  • 31
    • 84884668076 scopus 로고    scopus 로고
    • Ultrastructural characterization of genetic diffuse lung diseases in infants and children: A cohort study and review
    • CrossRef PubMed
    • Citti, A., Peca, D., Petrini, S., Cutrera, R., Biban, P., Haass, C., Boldrini, R. and Danhaive, O. (2013) Ultrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review. Ultrastruct. Pathol. 37, 356-365 CrossRef PubMed
    • (2013) Ultrastruct. Pathol. , vol.37 , pp. 356-365
    • Citti, A.1    Peca, D.2    Petrini, S.3    Cutrera, R.4    Biban, P.5    Haass, C.6    Boldrini, R.7    Danhaive, O.8
  • 32
    • 28844503843 scopus 로고    scopus 로고
    • Ultrastructure of lamellar bodies in congenital surfactant deficiency
    • CrossRef PubMed
    • Edwards, V., Cutz, E., Viero, S., Moore, A.M. and Nogee, L. (2005) Ultrastructure of lamellar bodies in congenital surfactant deficiency. Ultrastruct. Pathol. 29, 503-509 CrossRef PubMed
    • (2005) Ultrastruct. Pathol. , vol.29 , pp. 503-509
    • Edwards, V.1    Cutz, E.2    Viero, S.3    Moore, A.M.4    Nogee, L.5
  • 35
    • 73949137628 scopus 로고    scopus 로고
    • Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes
    • CrossRef PubMed
    • Hamvas, A., Nogee, L.M., Wegner, D.J., Depass, K., Christodoulou, J., Bennetts, B., McQuade, L.R., Gray, P.H., Deterding, R.R., Carroll, T.R. et al. (2009) Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes. J. Pediatr. 155, 854-859 CrossRef PubMed
    • (2009) J. Pediatr. , vol.155 , pp. 854-859
    • Hamvas, A.1    Nogee, L.M.2    Wegner, D.J.3    Depass, K.4    Christodoulou, J.5    Bennetts, B.6    McQuade, L.R.7    Gray, P.H.8    Deterding, R.R.9    Carroll, T.R.10
  • 37
    • 77953478729 scopus 로고    scopus 로고
    • Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations
    • CrossRef PubMed
    • Gower, W.A., Wert, S.E., Ginsberg, J.S., Golan, A., Whitsett, J.A. and Nogee, L.M. (2010) Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations. J. Pediatr. 157, 62-68 CrossRef PubMed
    • (2010) J. Pediatr. , vol.157 , pp. 62-68
    • Gower, W.A.1    Wert, S.E.2    Ginsberg, J.S.3    Golan, A.4    Whitsett, J.A.5    Nogee, L.M.6
  • 40
  • 41
    • 34547617163 scopus 로고    scopus 로고
    • Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation
    • CrossRef PubMed
    • Bullard, J.E. and Nogee, L.M. (2007) Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr. Res. 62, 176-179 CrossRef PubMed
    • (2007) Pediatr. Res. , vol.62 , pp. 176-179
    • Bullard, J.E.1    Nogee, L.M.2
  • 42
    • 33845918996 scopus 로고    scopus 로고
    • Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency
    • CrossRef PubMed
    • Matsumura, Y., Ban, N., Ueda, K. and Inagaki, N. (2006) Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J. Biol. Chem. 281, 34503-34514 CrossRef PubMed
    • (2006) J. Biol. Chem. , vol.281 , pp. 34503-34514
    • Matsumura, Y.1    Ban, N.2    Ueda, K.3    Inagaki, N.4
  • 43
    • 33646897427 scopus 로고    scopus 로고
    • Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome
    • CrossRef PubMed
    • Cheong, N., Madesh, M., Gonzales, L.W., Zhao, M., Yu, K., Ballard, P.L. and Shuman, H. (2006) Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome. J. Biol. Chem. 281, 9791-9800 CrossRef PubMed
    • (2006) J. Biol. Chem. , vol.281 , pp. 9791-9800
    • Cheong, N.1    Madesh, M.2    Gonzales, L.W.3    Zhao, M.4    Yu, K.5    Ballard, P.L.6    Shuman, H.7
  • 44
    • 56149098789 scopus 로고    scopus 로고
    • Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease
    • CrossRef PubMed
    • Matsumura, Y., Ban, N. and Inagaki, N. (2008) 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. 295, L698-L707 CrossRef PubMed
    • (2008) Am. J. Physiol. Lung Cell Mol. Physiol. , vol.295 , pp. L698-L707
    • Matsumura, Y.1    Ban, N.2    Inagaki, N.3
  • 46
    • 84861760848 scopus 로고    scopus 로고
    • Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation
    • CrossRef PubMed
    • Kaltenborn, E., Kern, S., Frixel, S., Fragnet, L., Conzelmann, K.K., Zarbock, R. and Griese, M. (2012) Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation. Hum. Mol. Genet. 21, 2793-2806 CrossRef PubMed
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 2793-2806
    • Kaltenborn, E.1    Kern, S.2    Frixel, S.3    Fragnet, L.4    Conzelmann, K.K.5    Zarbock, R.6    Griese, M.7
  • 48
    • 84870545230 scopus 로고    scopus 로고
    • Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals
    • CrossRef PubMed
    • Baekvad-Hansen, M., Nordestgaard, B.G. and Dahl, M. (2012) Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. Respir. Res. 13, 67 CrossRef PubMed
    • (2012) Respir. Res. , vol.13 , pp. 67
    • Baekvad-Hansen, M.1    Nordestgaard, B.G.2    Dahl, M.3
  • 50
    • 38849131268 scopus 로고    scopus 로고
    • Haplotype analysis of ABCA3: Association with respiratory distress in very premature infants
    • CrossRef PubMed
    • Karjalainen, M.K., Haataja, R. and Hallman, M. (2008) Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. Ann. Med. 40, 56-65 CrossRef PubMed
    • (2008) Ann. Med. , vol.40 , pp. 56-65
    • Karjalainen, M.K.1    Haataja, R.2    Hallman, M.3
  • 51
    • 84901503604 scopus 로고    scopus 로고
    • Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome
    • CrossRef PubMed
    • Wambach, J.A., Wegner, D.J., Heins, H.B., Druley, T.E., Mitra, R.D., Hamvas, A. and Cole, F.S. (2014) Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. J. Pediatr. 164, 1316-1321 CrossRef PubMed
    • (2014) J. Pediatr. , vol.164 , pp. 1316-1321
    • Wambach, J.A.1    Wegner, D.J.2    Heins, H.B.3    Druley, T.E.4    Mitra, R.D.5    Hamvas, A.6    Cole, F.S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.