메뉴 건너뛰기




Volumn 16, Issue 11, 2007, Pages 920-926

Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes

Author keywords

ATP; Keratinization; Lipid barrier; Secretion; Trafficking

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A12; GLUCOSYLCERAMIDE; LIPID; UNCLASSIFIED DRUG;

EID: 35348853132     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2007.00614.x     Document Type: Article
Times cited : (66)

References (42)
  • 1
    • 0026621245 scopus 로고
    • ABC transporters: From microorganisms to man
    • Higgins C F. ABC transporters: From microorganisms to man. Annu Rev Cell Biol 1992: 8: 67-113.
    • (1992) Annu Rev Cell Biol , vol.8 , pp. 67-113
    • Higgins, C.F.1
  • 2
    • 0029820166 scopus 로고    scopus 로고
    • Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database
    • Allikmets R, Gerrard B, Hutchinson A, et al. Characterization of the human ABC superfamily: Isolation and mapping of 21 new genes using the expressed sequence tags database. Hum Mol Genet 1996: 5: 1649-1655.
    • (1996) Hum Mol Genet , vol.5 , pp. 1649-1655
    • Allikmets, R.1    Gerrard, B.2    Hutchinson, A.3
  • 3
    • 0034917716 scopus 로고    scopus 로고
    • The human ATP-binding cassette (ABC) transporter superfamily
    • Dean M, Rzhetsky A, Allikmets R, et al. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res 2001: 11: 1156-1166.
    • (2001) Genome Res , vol.11 , pp. 1156-1166
    • Dean, M.1    Rzhetsky, A.2    Allikmets, R.3
  • 4
    • 0036074018 scopus 로고    scopus 로고
    • Mammalian ABC transporters in health and disease
    • Borst P, Elferink R O. Mammalian ABC transporters in health and disease. A Rev Biochem 2002: 71: 537-592.
    • (2002) A Rev Biochem , vol.71 , pp. 537-592
    • Borst, P.1    Elferink, R.O.2
  • 5
    • 0037225279 scopus 로고    scopus 로고
    • Characterization of the ABCA transporter subfamily: Identification of prokaryotic and eukaryotic members, phylogeny and topology
    • Peelman F, Labeur C, Vanloo B, et al. Characterization of the ABCA transporter subfamily: Identification of prokaryotic and eukaryotic members, phylogeny and topology. J Mol Biol 2003: 325: 259-274.
    • (2003) J Mol Biol , vol.325 , pp. 259-274
    • Peelman, F.1    Labeur, C.2    Vanloo, B.3
  • 7
    • 33746097414 scopus 로고    scopus 로고
    • Pathomechanisms of Harlequin ichthyosis and ABCA transporters in human diseases
    • Akiyama M. Pathomechanisms of Harlequin ichthyosis and ABCA transporters in human diseases. Arch Dermatol 2006: 142: 914-918.
    • (2006) Arch Dermatol , vol.142 , pp. 914-918
    • Akiyama, M.1
  • 8
    • 33646054123 scopus 로고    scopus 로고
    • Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms
    • Akiyama M. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms. J Dermatol Sci 2006: 42: 83-89.
    • (2006) J Dermatol Sci , vol.42 , pp. 83-89
    • Akiyama, M.1
  • 9
    • 0032813808 scopus 로고    scopus 로고
    • Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
    • Brooks-Wilson A, Marcil M, Clee S M, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999: 22: 336-345.
    • (1999) Nat Genet , vol.22 , pp. 336-345
    • Brooks-Wilson, A.1    Marcil, M.2    Clee, S.M.3
  • 10
    • 0032813660 scopus 로고    scopus 로고
    • Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
    • Rust S, Rosier M, Funke H, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999: 22: 352-355.
    • (1999) Nat Genet , vol.22 , pp. 352-355
    • Rust, S.1    Rosier, M.2    Funke, H.3
  • 11
    • 0036214524 scopus 로고    scopus 로고
    • Molecular basis of cholesterol homeostasis: Lessons from Tangier disease and ABCA1
    • Oram J F. Molecular basis of cholesterol homeostasis: Lessons from Tangier disease and ABCA1. Trends Mol Med 2002: 8: 168-173.
    • (2002) Trends Mol Med , vol.8 , pp. 168-173
    • Oram, J.F.1
  • 12
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • Allikmets R, Shroyer N F, Singh N et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997: 277: 1805-1807.
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3
  • 13
    • 0033794871 scopus 로고    scopus 로고
    • Simple and complex ABCR: Genetic predisposition to retinal disease
    • Allikmets R. Simple and complex ABCR: Genetic predisposition to retinal disease. Am J Hum Genet 2000: 67: 793-799.
    • (2000) Am J Hum Genet , vol.67 , pp. 793-799
    • Allikmets, R.1
  • 14
    • 0034085567 scopus 로고    scopus 로고
    • Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency
    • Hayden M R, Clee S M, Brooks-Wilson A, et al. Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency. Curr Opin Lipidol 2000: 11: 117-122.
    • (2000) Curr Opin Lipidol , vol.11 , pp. 117-122
    • Hayden, M.R.1    Clee, S.M.2    Brooks-Wilson, A.3
  • 15
    • 0035083516 scopus 로고    scopus 로고
    • Structure, function and regulation of the ABC1 gene product
    • Schmitz G, Langmann T. Structure, function and regulation of the ABC1 gene product. Curr Opin Lipidol 2001: 12: 129-140.
    • (2001) Curr Opin Lipidol , vol.12 , pp. 129-140
    • Schmitz, G.1    Langmann, T.2
  • 16
    • 0033962086 scopus 로고    scopus 로고
    • Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice
    • Orso E, Broccardo C, Kaminski W E, et al. Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice. Nat Genet 2000: 24: 192-196.
    • (2000) Nat Genet , vol.24 , pp. 192-196
    • Orso, E.1    Broccardo, C.2    Kaminski, W.E.3
  • 17
    • 0033538438 scopus 로고    scopus 로고
    • Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
    • Weng J, Mata N L, Azarian S M, et al. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 1999: 98: 13-23.
    • (1999) Cell , vol.98 , pp. 13-23
    • Weng, J.1    Mata, N.L.2    Azarian, S.M.3
  • 18
    • 0041333169 scopus 로고    scopus 로고
    • Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: A potential role for ABCA7 in epidermal lipid reorganization
    • Kielar D, Kaminski W E, Liebisch G, et al. Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: A potential role for ABCA7 in epidermal lipid reorganization. J Invest Dermatol 2003: 121: 465-474.
    • (2003) J Invest Dermatol , vol.121 , pp. 465-474
    • Kielar, D.1    Kaminski, W.E.2    Liebisch, G.3
  • 19
    • 33845595443 scopus 로고    scopus 로고
    • Regulation of ABCA1 expression in human keratinocytes and murine epidermis
    • Jiang Y J, Lu B, Kim P, Elias P M, Feingold K R. Regulation of ABCA1 expression in human keratinocytes and murine epidermis. J Lipid Res 2006: 47: 2248-2258.
    • (2006) J Lipid Res , vol.47 , pp. 2248-2258
    • Jiang, Y.J.1    Lu, B.2    Kim, P.3    Elias, P.M.4    Feingold, K.R.5
  • 20
    • 33644876516 scopus 로고    scopus 로고
    • Phytocomponents of triterpenoids, oleanolic acid and ursolic acid, regulated differently the processing of epidermal keratinocytes via PPAR-alpha pathway
    • Lee H K, Nam G W, Kim S H, Lee S H. Phytocomponents of triterpenoids, oleanolic acid and ursolic acid, regulated differently the processing of epidermal keratinocytes via PPAR-alpha pathway. Exp Dermatol 2006: 15: 66-73.
    • (2006) Exp Dermatol , vol.15 , pp. 66-73
    • Lee, H.K.1    Nam, G.W.2    Kim, S.H.3    Lee, S.H.4
  • 21
    • 22144437692 scopus 로고    scopus 로고
    • Mutations in ABCA12 in Harlequin ichthyosis and functional rescue by corrective gene transfer
    • Akiyama M, Sugiyama-Nakagiri Y, Sakai K, et al. Mutations in ABCA12 in Harlequin ichthyosis and functional rescue by corrective gene transfer. J Clin Invest 2005: 115: 1777-1784.
    • (2005) J Clin Invest , vol.115 , pp. 1777-1784
    • Akiyama, M.1    Sugiyama-Nakagiri, Y.2    Sakai, K.3
  • 22
    • 20244379129 scopus 로고    scopus 로고
    • Mutations in ABCA12 underlie the severe congenital skin disease Harlequin ichthyosis
    • Kelsell D P, Norgett E E, Unsworth H, et al. Mutations in ABCA12 underlie the severe congenital skin disease Harlequin ichthyosis. Am J Hum Genet 2005: 76: 794-803.
    • (2005) Am J Hum Genet , vol.76 , pp. 794-803
    • Kelsell, D.P.1    Norgett, E.E.2    Unsworth, H.3
  • 23
    • 33745217341 scopus 로고    scopus 로고
    • Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of Harlequin ichthyosis with moderate clinical severity
    • Akiyama M, Sakai K, Sugiyama-Nakagiri Y, et al. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of Harlequin ichthyosis with moderate clinical severity. J Invest Dermatol 2006: 126: 1518-1523.
    • (2006) J Invest Dermatol , vol.126 , pp. 1518-1523
    • Akiyama, M.1    Sakai, K.2    Sugiyama-Nakagiri, Y.3
  • 24
    • 33745042433 scopus 로고    scopus 로고
    • A novel ABCA12 mutation underlying a case of Harlequin ichthyosis
    • Rajpar S F, Cullup T, Kelsell D P, Moss C. A novel ABCA12 mutation underlying a case of Harlequin ichthyosis. Br J Dermatol 2006: 155: 204-206.
    • (2006) Br J Dermatol , vol.155 , pp. 204-206
    • Rajpar, S.F.1    Cullup, T.2    Kelsell, D.P.3    Moss, C.4
  • 25
    • 33749854840 scopus 로고    scopus 로고
    • A novel ABCA12 mutation 3270delT causes Harlequin ichthyosis
    • Akiyama M, Sakai K, Wolff G, et al. A novel ABCA12 mutation 3270delT causes Harlequin ichthyosis. Br J Dermatol 2006: 155: 1064-1066.
    • (2006) Br J Dermatol , vol.155 , pp. 1064-1066
    • Akiyama, M.1    Sakai, K.2    Wolff, G.3
  • 26
    • 33750058304 scopus 로고    scopus 로고
    • ABCA12 is the major Harlequin ichthyosis gene
    • Thomas A C, Cullup T, Norgett E E, et al. ABCA12 is the major Harlequin ichthyosis gene. J Invest Dermatol 2006: 126: 2408-2413.
    • (2006) J Invest Dermatol , vol.126 , pp. 2408-2413
    • Thomas, A.C.1    Cullup, T.2    Norgett, E.E.3
  • 27
    • 33847031771 scopus 로고    scopus 로고
    • DNA-based prenatal diagnosis of Harlequin ichthyosis and characterization of ABCA12 mutation consequences
    • Akiyama M, Titeux M, Sakai K, et al. DNA-based prenatal diagnosis of Harlequin ichthyosis and characterization of ABCA12 mutation consequences. J Invest Dermatol 2007: 127: 568-573.
    • (2007) J Invest Dermatol , vol.127 , pp. 568-573
    • Akiyama, M.1    Titeux, M.2    Sakai, K.3
  • 28
    • 34547776343 scopus 로고    scopus 로고
    • Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie Harlequin ichthyosis
    • (in press)
    • Akiyama M, Sakai K, Sato T, et al. Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie Harlequin ichthyosis. Dermatology (in press).
    • Dermatology
    • Akiyama, M.1    Sakai, K.2    Sato, T.3
  • 29
    • 0033067751 scopus 로고    scopus 로고
    • Periderm cells form cornified cell envelope in their regression process during human epidermal development
    • Akiyama M, Smith L T, Yoneda K, et al. Periderm cells form cornified cell envelope in their regression process during human epidermal development. J Invest Dermatol 1999: 112: 903-909.
    • (1999) J Invest Dermatol , vol.112 , pp. 903-909
    • Akiyama, M.1    Smith, L.T.2    Yoneda, K.3
  • 30
    • 0024378684 scopus 로고
    • Demonstration of intra- and extra-cellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immuno-electron microscopy
    • Shimizu H, McDonald J N, Kennedy A R, et al. Demonstration of intra- and extra-cellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for postembedding immuno-electron microscopy. Arch Dermatol Res 1989: 281: 443-448.
    • (1989) Arch Dermatol Res , vol.281 , pp. 443-448
    • Shimizu, H.1    McDonald, J.N.2    Kennedy, A.R.3
  • 31
    • 0019042936 scopus 로고
    • Immunochemistry on ultrathin frozen sections
    • Tokuyasu K T. Immunochemistry on ultrathin frozen sections. Histochem J 1980: 12: 381-403.
    • (1980) Histochem J , vol.12 , pp. 381-403
    • Tokuyasu, K.T.1
  • 33
    • 0035724960 scopus 로고    scopus 로고
    • Localization of ceramide and glucosylceramide in human epidermis by immunogold electron microscopy
    • Vielhaber G, Pfeiffer S, Brade L, et al. Localization of ceramide and glucosylceramide in human epidermis by immunogold electron microscopy. J Invest Dermatol 2001: 117: 1126-1136.
    • (2001) J Invest Dermatol , vol.117 , pp. 1126-1136
    • Vielhaber, G.1    Pfeiffer, S.2    Brade, L.3
  • 34
    • 2442423840 scopus 로고    scopus 로고
    • Epidermal lamellar granules transport different cargoes as distinct aggregates
    • Ishida-Yamamoto A, Simon M, Kishibe M, et al. Epidermal lamellar granules transport different cargoes as distinct aggregates. J Invest Dermatol 2004: 122: 1137-1144.
    • (2004) J Invest Dermatol , vol.122 , pp. 1137-1144
    • Ishida-Yamamoto, A.1    Simon, M.2    Kishibe, M.3
  • 35
    • 0027316078 scopus 로고
    • Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function
    • Holleran W M, Takagi Y, Menon G K, et al. Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function. J Clin Invest 1993: 91: 1656-1664.
    • (1993) J Clin Invest , vol.91 , pp. 1656-1664
    • Holleran, W.M.1    Takagi, Y.2    Menon, G.K.3
  • 36
    • 0035900369 scopus 로고    scopus 로고
    • ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells
    • Yamano G, Funahashi H, Kawanami O, et al. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 2001: 508: 221-225.
    • (2001) FEBS Lett , vol.508 , pp. 221-225
    • Yamano, G.1    Funahashi, H.2    Kawanami, O.3
  • 38
    • 10744220980 scopus 로고    scopus 로고
    • Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
    • Lefèvre C, Audebert S, Jobard F, et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 2003: 12: 2369-2378.
    • (2003) Hum Mol Genet , vol.12 , pp. 2369-2378
    • Lefèvre, C.1    Audebert, S.2    Jobard, F.3
  • 39
    • 0034815432 scopus 로고    scopus 로고
    • Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages
    • Kaminski W E, Piehler A, Pullmann K, et al. Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages. Biochem Biophys Res Commun 2001: 281: 249-258.
    • (2001) Biochem Biophys Res Commun , vol.281 , pp. 249-258
    • Kaminski, W.E.1    Piehler, A.2    Pullmann, K.3
  • 40
    • 12944286618 scopus 로고    scopus 로고
    • ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport
    • Klucken J, Buchler C, Orso E, et al. ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. Proc Natl Acad Sci USA 2000: 97: 817-822.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 817-822
    • Klucken, J.1    Buchler, C.2    Orso, E.3
  • 41
    • 0034783382 scopus 로고    scopus 로고
    • Skin barrier formation: The membrane folding model
    • Norlen L. Skin barrier formation: The membrane folding model. J Invest Dermatol 2001: 117: 823-829.
    • (2001) J Invest Dermatol , vol.117 , pp. 823-829
    • Norlen, L.1
  • 42
    • 0037377659 scopus 로고    scopus 로고
    • A cryotransmission electron microscopy study of skin barrier formation
    • Norlen L, Al-Amoudi A, Dubochet J. A cryotransmission electron microscopy study of skin barrier formation. J Invest Dermatol 2003: 120: 555-560.
    • (2003) J Invest Dermatol , vol.120 , pp. 555-560
    • Norlen, L.1    Al-Amoudi, A.2    Dubochet, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.