메뉴 건너뛰기




Volumn 413, Issue 3, 2011, Pages 400-406

Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology

Author keywords

Cholesterol; Liver; Niemann Pick type C disease; NPC1; Spleen

Indexed keywords

CHOLESTEROL; PHOSPHOLIPID;

EID: 80053299096     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.08.096     Document Type: Article
Times cited : (42)

References (30)
  • 1
    • 0000831301 scopus 로고    scopus 로고
    • Niemann-Pick disease type C. A lipid trafficking disorder
    • New York, McGraw Hill, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
    • Patterson M.C., Vanier M.T., Suzuki K., et al. Niemann-Pick disease type C. A lipid trafficking disorder. The Metabolic and Molecular Basis of Inherited Disease 2001, 1-44. New York, McGraw Hill. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , pp. 1-44
    • Patterson, M.C.1    Vanier, M.T.2    Suzuki, K.3
  • 3
    • 0030863352 scopus 로고    scopus 로고
    • Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
    • Cartsea E.D., Morris J.A., Coleman J.K. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 1997, 277:228-231.
    • (1997) Science , vol.277 , pp. 228-231
    • Cartsea, E.D.1    Morris, J.A.2    Coleman, J.K.3
  • 6
    • 67549105629 scopus 로고    scopus 로고
    • Structure of N-Terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol
    • Kwon J., Abi-Mosleh L., Wang M., Deisenhofer J., Goldstein J., Brown M., Infante R. Structure of N-Terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. Cell 2009, 137:1213-1224.
    • (2009) Cell , vol.137 , pp. 1213-1224
    • Kwon, J.1    Abi-Mosleh, L.2    Wang, M.3    Deisenhofer, J.4    Goldstein, J.5    Brown, M.6    Infante, R.7
  • 7
    • 4944230810 scopus 로고    scopus 로고
    • Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport
    • Liscum L., Sturley S.L. Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport. Biochim. Biophys. Acta 2004, 1685:22-27.
    • (2004) Biochim. Biophys. Acta , vol.1685 , pp. 22-27
    • Liscum, L.1    Sturley, S.L.2
  • 9
    • 0141886877 scopus 로고    scopus 로고
    • Niemann-Pick disease type C
    • Vanier M.T., Millat G. Niemann-Pick disease type C. Clin. Genet. 2003, 64:269-281.
    • (2003) Clin. Genet. , vol.64 , pp. 269-281
    • Vanier, M.T.1    Millat, G.2
  • 10
    • 34249909505 scopus 로고    scopus 로고
    • The National Niemann-Pick C1 disease database: report of clinical features and health problems
    • Garver W.S., Francis G.A., Jelinek D., et al. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am. J. Med. Genet. A 2007, 143:1204-1211.
    • (2007) Am. J. Med. Genet. A , vol.143 , pp. 1204-1211
    • Garver, W.S.1    Francis, G.A.2    Jelinek, D.3
  • 12
    • 0020317591 scopus 로고
    • Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans
    • Miyawaki S., Mitsuoka S., Sakiyama T., Kitagawa T. Sphingomyelinosis, a new mutation in the mouse: a model of Niemann-Pick disease in humans. J. Hered. 1982, 73:257-263.
    • (1982) J. Hered. , vol.73 , pp. 257-263
    • Miyawaki, S.1    Mitsuoka, S.2    Sakiyama, T.3    Kitagawa, T.4
  • 13
    • 0019977775 scopus 로고
    • Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics
    • Morris M.D., Bhuvaneswaran C., Shio H., Fowler S. Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics. Am. J. Pathol. 1982, 108:140-149.
    • (1982) Am. J. Pathol. , vol.108 , pp. 140-149
    • Morris, M.D.1    Bhuvaneswaran, C.2    Shio, H.3    Fowler, S.4
  • 14
    • 0031057790 scopus 로고    scopus 로고
    • A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C
    • Akaboshi S., Yano T., Miyawaki S., Ohno K., Takeshita K. A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C. Hum. Genet. 1997, 99:350-353.
    • (1997) Hum. Genet. , vol.99 , pp. 350-353
    • Akaboshi, S.1    Yano, T.2    Miyawaki, S.3    Ohno, K.4    Takeshita, K.5
  • 15
    • 0030768084 scopus 로고    scopus 로고
    • Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene
    • Loftus S.K., Morris J.A., Cartsea E.D., et al. Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science 1997, 277:232-235.
    • (1997) Science , vol.277 , pp. 232-235
    • Loftus, S.K.1    Morris, J.A.2    Cartsea, E.D.3
  • 16
    • 0021346802 scopus 로고
    • A genetic storage disorder in BALB/c mice with a metabolic block in sterification of exogenous cholesterol
    • Pentchev P.G., Boothe A.D., Kruth H.S., Weintroub H., Stivers J., Brady R.O. A genetic storage disorder in BALB/c mice with a metabolic block in sterification of exogenous cholesterol. J. Biol. Chem. 1984, 259:5784-5791.
    • (1984) J. Biol. Chem. , vol.259 , pp. 5784-5791
    • Pentchev, P.G.1    Boothe, A.D.2    Kruth, H.S.3    Weintroub, H.4    Stivers, J.5    Brady, R.O.6
  • 17
    • 4744365602 scopus 로고    scopus 로고
    • Consequences of NPC1 and NPC2 loss of function in mammalian neurons
    • Walkley S.U., Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim. Biophys. Acta 2004, 1685:48-62.
    • (2004) Biochim. Biophys. Acta , vol.1685 , pp. 48-62
    • Walkley, S.U.1    Suzuki, K.2
  • 19
    • 0036789434 scopus 로고    scopus 로고
    • Relevance of Niemann-Pick type C1 protein expression in controlling plasma cholesterol and biliary lipid secretion in mice
    • Amigo L., Mendoza H., Castro J., Quiñones V., Miquel J.F., Zanlungo S. Relevance of Niemann-Pick type C1 protein expression in controlling plasma cholesterol and biliary lipid secretion in mice. Hepatology 2002, 36:819-828.
    • (2002) Hepatology , vol.36 , pp. 819-828
    • Amigo, L.1    Mendoza, H.2    Castro, J.3    Quiñones, V.4    Miquel, J.F.5    Zanlungo, S.6
  • 20
    • 0034464821 scopus 로고    scopus 로고
    • Overexpression of sterol carrier protein-2 leads to altered lipid metabolism and enhanced enterohepatic sterol circulation in mice
    • Zanlungo S., Amigo L., Mendoza H., et al. Overexpression of sterol carrier protein-2 leads to altered lipid metabolism and enhanced enterohepatic sterol circulation in mice. Gastroenterology 2000, 119:1708-1719.
    • (2000) Gastroenterology , vol.119 , pp. 1708-1719
    • Zanlungo, S.1    Amigo, L.2    Mendoza, H.3
  • 21
    • 70449158340 scopus 로고
    • A simple method for the isolation and purification of total lipids from animal tissues
    • Folch J., Less M., Stanley G. A simple method for the isolation and purification of total lipids from animal tissues. J. Biol. Chem. 1957, 226:497-509.
    • (1957) J. Biol. Chem. , vol.226 , pp. 497-509
    • Folch, J.1    Less, M.2    Stanley, G.3
  • 22
    • 0024255821 scopus 로고
    • Regulation of biliary cholesterol secretion. Functional relationship between the canalicular and sinusoidal cholesterol secretory pathways in the rat
    • Nervi F., Marinovic I., Rigotti A., Ulloa N. Regulation of biliary cholesterol secretion. Functional relationship between the canalicular and sinusoidal cholesterol secretory pathways in the rat. J. Clin. Invest. 1988, 82:1818-1825.
    • (1988) J. Clin. Invest. , vol.82 , pp. 1818-1825
    • Nervi, F.1    Marinovic, I.2    Rigotti, A.3    Ulloa, N.4
  • 24
    • 0026544345 scopus 로고
    • Niemann Pick c or storage by excessive blood cell destruction: a case presenting a diagnosis problem
    • Lageron A., Mazière J.C., Gane P., Goossens D., Roy C. Niemann Pick c or storage by excessive blood cell destruction: a case presenting a diagnosis problem. Acta Histochem. 1992, 92:39-45.
    • (1992) Acta Histochem. , vol.92 , pp. 39-45
    • Lageron, A.1    Mazière, J.C.2    Gane, P.3    Goossens, D.4    Roy, C.5
  • 29
    • 33646861415 scopus 로고    scopus 로고
    • The diagnostic plot: a concept for identifying different states of iron deficiency and monitoring the response to epoetin therapy
    • Thomas C., Kirschbaum A., Boehm D., Thomas L. The diagnostic plot: a concept for identifying different states of iron deficiency and monitoring the response to epoetin therapy. Rev. Med. Oncol. 2006, 23:23-36.
    • (2006) Rev. Med. Oncol. , vol.23 , pp. 23-36
    • Thomas, C.1    Kirschbaum, A.2    Boehm, D.3    Thomas, L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.