메뉴 건너뛰기




Volumn 115, Issue 2, 2008, Pages 159-174

Immune system irregularities in lysosomal storage disorders

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA MANNOSIDASE; BETA GLUCURONIDASE; BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B; CD3 ANTIGEN; CD4 ANTIGEN; CD8 ANTIGEN; GALACTOSYLCERAMIDASE; GANGLIOSIDE GM2; GLUCOSYLCERAMIDASE; GLUTAMATE DECARBOXYLASE 65; GLUTAMATE DECARBOXYLASE 65 ANTIBODY; GLYCOSAMINOGLYCAN; INTERLEUKIN 10; INTERLEUKIN 2 RECEPTOR; MACROPHAGE INFLAMMATORY PROTEIN 1ALPHA; MACROPHAGE INFLAMMATORY PROTEIN 1BETA; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; MEMBRANE PROTEIN; MONOCYTE CHEMOTACTIC PROTEIN 1; N ACETYLGLUCOSAMINYLTRANSFERASE; PROTEOLIPID; PSYCHOSINE; PYRUVATE DEHYDROGENASE; SPHINGOMYELIN PHOSPHODIESTERASE; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR ALPHA RECEPTOR;

EID: 38149018555     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-007-0296-4     Document Type: Review
Times cited : (92)

References (140)
  • 1
    • 0031018508 scopus 로고    scopus 로고
    • Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: Increased release of interleukin-6 and interleukin-10
    • Allen MJ, Myer BJ, Khokher AM, Rushton N, Cox TM (1997) Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: Increased release of interleukin-6 and interleukin-10. QJM 90:19-25
    • (1997) QJM , vol.90 , pp. 19-25
    • Allen, M.J.1    Myer, B.J.2    Khokher, A.M.3    Rushton, N.4    Cox, T.M.5
  • 3
    • 25144524516 scopus 로고    scopus 로고
    • A very unusual presentation of Niemann-Pick disease type B in an infant: Similar findings to congenital lobar emphysema
    • Arda IS, Gencoglu A, Coskun M, Ozbek N, Demirhan B, Hicsonmez A (2005) A very unusual presentation of Niemann-Pick disease type B in an infant: similar findings to congenital lobar emphysema. Eur J Pediatr Surg 15:283-286
    • (2005) Eur J Pediatr Surg , vol.15 , pp. 283-286
    • Arda, I.S.1    Gencoglu, A.2    Coskun, M.3    Ozbek, N.4    Demirhan, B.5    Hicsonmez, A.6
  • 4
    • 0016802728 scopus 로고
    • Distribution of cytoplasmic vacuoles in blood T and B lymphocytes in two lysosomal disorders
    • Aula P, Rapola J, Andersson LC (1975) Distribution of cytoplasmic vacuoles in blood T and B lymphocytes in two lysosomal disorders. Virchows Arch B Cell Pathol 18:263-271
    • (1975) Virchows Arch B Cell Pathol , vol.18 , pp. 263-271
    • Aula, P.1    Rapola, J.2    Andersson, L.C.3
  • 5
    • 0032965433 scopus 로고    scopus 로고
    • Elevated lysosomal pH in Mucolipidosis type IV cells
    • Bach G, Chen CS, Pagano RE (1999) Elevated lysosomal pH in Mucolipidosis type IV cells. Clin Chim Acta 280:173-179
    • (1999) Clin Chim Acta , vol.280 , pp. 173-179
    • Bach, G.1    Chen, C.S.2    Pagano, R.E.3
  • 6
    • 20444441569 scopus 로고    scopus 로고
    • Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: Monocytes from Gaucher disease patients as a model
    • Balreira A, Lacerda L, Miranda CS, Arosa FA (2005) Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model. Br J Haematol 129:667-676
    • (2005) Br J Haematol , vol.129 , pp. 667-676
    • Balreira, A.1    Lacerda, L.2    Miranda, C.S.3    Arosa, F.A.4
  • 8
    • 0035153479 scopus 로고    scopus 로고
    • Lessons learned from the development of enzyme therapy for Gaucher disease
    • discussion 87-88
    • Barranger JA, O'Rourke E (2001) Lessons learned from the development of enzyme therapy for Gaucher disease. J Inherit Metab Dis 24(Suppl 2):89-96. discussion 87-88
    • (2001) J Inherit Metab Dis , vol.24 , Issue.SUPPL. 2 , pp. 89-96
    • Barranger, J.A.1    O'Rourke, E.2
  • 10
    • 0034987441 scopus 로고    scopus 로고
    • Leukodystrophies: Recent developments in genetics, molecular biology, pathogenesis and treatment
    • Berger J, Moser HW, Forss-Petter S (2001) Leukodystrophies: Recent developments in genetics, molecular biology, pathogenesis and treatment. Curr Opin Neurol 14:305-312
    • (2001) Curr Opin Neurol , vol.14 , pp. 305-312
    • Berger, J.1    Moser, H.W.2    Forss-Petter, S.3
  • 11
    • 0014882816 scopus 로고
    • The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes
    • Beutler E, Kuhl W (1970) The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes. J Lab Clin Med 76:747-755
    • (1970) J Lab Clin Med , vol.76 , pp. 747-755
    • Beutler, E.1    Kuhl, W.2
  • 14
    • 0032974475 scopus 로고    scopus 로고
    • Degranulation plays an essential part in regulating cell surface expression of Fas ligand in T cells and natural killer cells
    • Bossi G, Griffiths GM (1999) Degranulation plays an essential part in regulating cell surface expression of Fas ligand in T cells and natural killer cells. Nat Med 5:90-96
    • (1999) Nat Med , vol.5 , pp. 90-96
    • Bossi, G.1    Griffiths, G.M.2
  • 15
    • 2542448243 scopus 로고    scopus 로고
    • CD1: Antigen presentation and T cell function
    • Brigl M, Brenner MB (2004) CD1: Antigen presentation and T cell function. Annu Rev Immunol 22:817-890
    • (2004) Annu Rev Immunol , vol.22 , pp. 817-890
    • Brigl, M.1    Brenner, M.B.2
  • 16
    • 0025906661 scopus 로고
    • B and T lymphocytes are affected in lysosomal disorders - An immunoelectron microscopic study
    • Bruck W, Goebel HH, Dienes P (1991) B and T lymphocytes are affected in lysosomal disorders - an immunoelectron microscopic study. Neuropathol Appl Neurobiol 17:219-222
    • (1991) Neuropathol Appl Neurobiol , vol.17 , pp. 219-222
    • Bruck, W.1    Goebel, H.H.2    Dienes, P.3
  • 17
    • 0025597939 scopus 로고
    • The lytic granules of natural killer cells are dual-function organelles combining secretory and pre-lysosomal compartments
    • Burkhardt JK, Hester S, Lapham CK, Argon Y (1990) The lytic granules of natural killer cells are dual-function organelles combining secretory and pre-lysosomal compartments. J Cell Biol 111:2327-2340
    • (1990) J Cell Biol , vol.111 , pp. 2327-2340
    • Burkhardt, J.K.1    Hester, S.2    Lapham, C.K.3    Argon, Y.4
  • 19
    • 0023371670 scopus 로고
    • Abnormalities of cellular immunity and natural killer cells in Gaucher's disease
    • Burstein Y, Zakuth V, Rechavi G, Spirer Z (1987) Abnormalities of cellular immunity and natural killer cells in Gaucher's disease. J Clin Lab Immunol 23:149-151
    • (1987) J Clin Lab Immunol , vol.23 , pp. 149-151
    • Burstein, Y.1    Zakuth, V.2    Rechavi, G.3    Spirer, Z.4
  • 20
    • 0032005330 scopus 로고    scopus 로고
    • Endosomal proteolysis and MHC class II function
    • Chapman HA (1998) Endosomal proteolysis and MHC class II function. Curr Opin Immunol 10:93-102
    • (1998) Curr Opin Immunol , vol.10 , pp. 93-102
    • Chapman, H.A.1
  • 22
    • 0027482779 scopus 로고
    • Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy
    • Chen YQ, Rafi MA, de Gala G, Wenger DA (1993) Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet 2:1841-1845
    • (1993) Hum Mol Genet , vol.2 , pp. 1841-1845
    • Chen, Y.Q.1    Rafi, M.A.2    de Gala, G.3    Wenger, D.A.4
  • 23
    • 0037399422 scopus 로고    scopus 로고
    • Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis
    • Cooper JD (2003) Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis. Curr Opin Neurol 16:121-128
    • (2003) Curr Opin Neurol , vol.16 , pp. 121-128
    • Cooper, J.D.1
  • 24
    • 0035157905 scopus 로고    scopus 로고
    • Gaucher disease: Understanding the molecular pathogenesis of sphingolipidoses
    • discussion 187-108
    • Cox TM (2001) Gaucher disease: Understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis 24(Suppl 2):106-121. discussion 187-108
    • (2001) J Inherit Metab Dis , vol.24 , Issue.SUPPL. 2 , pp. 106-121
    • Cox, T.M.1
  • 25
    • 0034635356 scopus 로고    scopus 로고
    • Role of Niemann-Pick type C1 protein in intracellular trafficking of low density lipoprotein-derived cholesterol
    • Cruz JC, Sugii S, Yu C, Chang TY (2000) Role of Niemann-Pick type C1 protein in intracellular trafficking of low density lipoprotein-derived cholesterol. J Biol Chem 275:4013-4021
    • (2000) J Biol Chem , vol.275 , pp. 4013-4021
    • Cruz, J.C.1    Sugii, S.2    Yu, C.3    Chang, T.Y.4
  • 26
    • 0034094433 scopus 로고    scopus 로고
    • Abnormal immune function in vivo in a murine model of lysosomal storage disease
    • Daly TM, Lorenz RG, Sands MS (2000) Abnormal immune function in vivo in a murine model of lysosomal storage disease. Pediatr Res 47:757-762
    • (2000) Pediatr Res , vol.47 , pp. 757-762
    • Daly, T.M.1    Lorenz, R.G.2    Sands, M.S.3
  • 32
    • 1042288280 scopus 로고    scopus 로고
    • The intracellular location and function of proteins of neuronal ceroid lipofuscinoses
    • Ezaki J, Kominami E (2004) The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. Brain Pathol 14:77-85
    • (2004) Brain Pathol , vol.14 , pp. 77-85
    • Ezaki, J.1    Kominami, E.2
  • 34
    • 0029999269 scopus 로고    scopus 로고
    • Immunophenotypical comparison of Gaucher's and pseudo-Gaucher cells
    • Florena AM, Franco V, Campesi G (1996) Immunophenotypical comparison of Gaucher's and pseudo-Gaucher cells. Pathol Int 46:155-160
    • (1996) Pathol Int , vol.46 , pp. 155-160
    • Florena, A.M.1    Franco, V.2    Campesi, G.3
  • 37
    • 0028038426 scopus 로고
    • MHC-dependent antigen processing and peptide presentation: Providing ligands for T lymphocyte activation
    • Germain RN (1994) MHC-dependent antigen processing and peptide presentation: Providing ligands for T lymphocyte activation. Cell 76:287-299
    • (1994) Cell , vol.76 , pp. 287-299
    • Germain, R.N.1
  • 38
    • 0028455968 scopus 로고
    • EJCB-lecture. A novel lysosomal compartment engaged in antigen presentation
    • Geuze H (1994) EJCB-lecture. A novel lysosomal compartment engaged in antigen presentation. Eur J Cell Biol 64:3-6
    • (1994) Eur J Cell Biol , vol.64 , pp. 3-6
    • Geuze, H.1
  • 39
    • 0029978280 scopus 로고    scopus 로고
    • The biogenesis of the MHC class II compartment in human I-cell disease B lymphoblasts
    • Glickman JN, Morton PA, Slot JW, Kornfeld S, Geuze HJ (1996) The biogenesis of the MHC class II compartment in human I-cell disease B lymphoblasts. J Cell Biol 132:769-785
    • (1996) J Cell Biol , vol.132 , pp. 769-785
    • Glickman, J.N.1    Morton, P.A.2    Slot, J.W.3    Kornfeld, S.4    Geuze, H.J.5
  • 40
    • 33749334912 scopus 로고    scopus 로고
    • Chewing the fat on natural killer T cell development
    • Godfrey DI, McConville MJ, Pellicci DG (2006) Chewing the fat on natural killer T cell development. J Exp Med 203:2229-2232
    • (2006) J Exp Med , vol.203 , pp. 2229-2232
    • Godfrey, D.I.1    McConville, M.J.2    Pellicci, D.G.3
  • 41
    • 0028879016 scopus 로고
    • The neuronal ceroid-lipofuscinoses
    • Goebel HH (1995) The neuronal ceroid-lipofuscinoses. J Child Neurol 10:424-437
    • (1995) J Child Neurol , vol.10 , pp. 424-437
    • Goebel, H.H.1
  • 42
    • 1042265181 scopus 로고    scopus 로고
    • Current state of clinical and morphological features in human NCL
    • Goebel HH, Wisniewski KE (2004) Current state of clinical and morphological features in human NCL. Brain Pathol 14:61-69
    • (2004) Brain Pathol , vol.14 , pp. 61-69
    • Goebel, H.H.1    Wisniewski, K.E.2
  • 45
    • 26244445000 scopus 로고    scopus 로고
    • The lysosomal cysteine proteases in MHC class II antigen presentation
    • Hsing LC, Rudensky AY (2005) The lysosomal cysteine proteases in MHC class II antigen presentation. Immunol Rev 207:229-241
    • (2005) Immunol Rev , vol.207 , pp. 229-241
    • Hsing, L.C.1    Rudensky, A.Y.2
  • 46
    • 0030782030 scopus 로고    scopus 로고
    • Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases
    • Huang JQ, Trasler JM, Igdoura S, Michaud J, Hanal N, Gravel RA (1997) Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. Hum Mol Genet 6:1879-1885
    • (1997) Hum Mol Genet , vol.6 , pp. 1879-1885
    • Huang, J.Q.1    Trasler, J.M.2    Igdoura, S.3    Michaud, J.4    Hanal, N.5    Gravel, R.A.6
  • 47
    • 0030137994 scopus 로고    scopus 로고
    • Intracellular trafficking of lysosomal membrane proteins
    • Hunziker W, Geuze HJ (1996) Intracellular trafficking of lysosomal membrane proteins. Bioessays 18:379-389
    • (1996) Bioessays , vol.18 , pp. 379-389
    • Hunziker, W.1    Geuze, H.J.2
  • 48
    • 0020064069 scopus 로고
    • Ultrastructural pathology of human lymphocytes in lysosomal disorders: A contribution to their morphological diagnosis
    • Ikeda K, Goebel HH, Burck U, Kohlschutter A (1982) Ultrastructural pathology of human lymphocytes in lysosomal disorders: A contribution to their morphological diagnosis. Eur J Pediatr 138:179-185
    • (1982) Eur J Pediatr , vol.138 , pp. 179-185
    • Ikeda, K.1    Goebel, H.H.2    Burck, U.3    Kohlschutter, A.4
  • 49
    • 0033813196 scopus 로고    scopus 로고
    • The structure and function of the Niemann-Pick C1 protein
    • Ioannou YA (2000) The structure and function of the Niemann-Pick C1 protein. Mol Genet Metab 71:175-181
    • (2000) Mol Genet Metab , vol.71 , pp. 175-181
    • Ioannou, Y.A.1
  • 50
    • 0027155945 scopus 로고
    • Acidification and disulfide reduction can be sufficient to allow intact proteins to bind class II MHC
    • Jensen PE (1993) Acidification and disulfide reduction can be sufficient to allow intact proteins to bind class II MHC. J Immunol 150:3347-3356
    • (1993) J Immunol , vol.150 , pp. 3347-3356
    • Jensen, P.E.1
  • 54
    • 0027942110 scopus 로고
    • Acidification is essential for maintaining the structure and function of lytic granules of CTL. Effect of concanamycin A, an inhibitor of vacuolar type H(+)-ATPase, on CTL-mediated cytotoxicity
    • Kataoka T, Takaku K, Magae J, Shinohara N, Takayama H, Kondo S, Nagai K (1994) Acidification is essential for maintaining the structure and function of lytic granules of CTL. Effect of concanamycin A, an inhibitor of vacuolar type H(+)-ATPase, on CTL-mediated cytotoxicity. J Immunol 153:3938-3947
    • (1994) J Immunol , vol.153 , pp. 3938-3947
    • Kataoka, T.1    Takaku, K.2    Magae, J.3    Shinohara, N.4    Takayama, H.5    Kondo, S.6    Nagai, K.7
  • 55
    • 0028585868 scopus 로고
    • Characterization of T-cell subclasses and NK-cells in lysosomal disorders by immuno-electron microscopy
    • Kieseier BC, Goebel HH (1994) Characterization of T-cell subclasses and NK-cells in lysosomal disorders by immuno-electron microscopy. Neuropathol Appl Neurobiol 20:604-608
    • (1994) Neuropathol Appl Neurobiol , vol.20 , pp. 604-608
    • Kieseier, B.C.1    Goebel, H.H.2
  • 56
    • 0029056484 scopus 로고
    • Immunelectronmicroscopic characterization of T4 and T8 lymphocytes and natural killer cells in neuronal ceroid-lipofuscinosis
    • Kieseier BC, Goebel HH (1995) Immunelectronmicroscopic characterization of T4 and T8 lymphocytes and natural killer cells in neuronal ceroid-lipofuscinosis. Am J Med Genet 57:222-224
    • (1995) Am J Med Genet , vol.57 , pp. 222-224
    • Kieseier, B.C.1    Goebel, H.H.2
  • 57
    • 0030875430 scopus 로고    scopus 로고
    • The monocyte-macrophage system is affected in lysosomal storage diseases: An immunoelectron microscopic study
    • Kieseier BC, Wisniewski KE, Goebel HH (1997) The monocyte-macrophage system is affected in lysosomal storage diseases: An immunoelectron microscopic study. Acta Neuropathol (Berl) 94:359-362
    • (1997) Acta Neuropathol (Berl) , vol.94 , pp. 359-362
    • Kieseier, B.C.1    Wisniewski, K.E.2    Goebel, H.H.3
  • 59
    • 0347364649 scopus 로고    scopus 로고
    • A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease
    • Kim Y, Ramirez-Montealegre D, Pearce DA (2003) A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease. Proc Natl Acad Sci USA 100:15458-15462
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 15458-15462
    • Kim, Y.1    Ramirez-Montealegre, D.2    Pearce, D.A.3
  • 60
    • 0023907710 scopus 로고
    • Light and electron microscopic study of juvenile neuronal ceroid-lipofuscinosis lymphocytes
    • Kimura S, Goebel HH (1988) Light and electron microscopic study of juvenile neuronal ceroid-lipofuscinosis lymphocytes. Pediatr Neurol 4:148-152
    • (1988) Pediatr Neurol , vol.4 , pp. 148-152
    • Kimura, S.1    Goebel, H.H.2
  • 63
    • 27644575157 scopus 로고    scopus 로고
    • Coordinating ERK/MAPK signalling through scaffolds and inhibitors
    • Kolch W (2005) Coordinating ERK/MAPK signalling through scaffolds and inhibitors. Nat Rev Mol Cell Biol 6:827-837
    • (2005) Nat Rev Mol Cell Biol , vol.6 , pp. 827-837
    • Kolch, W.1
  • 65
    • 0030614992 scopus 로고    scopus 로고
    • IL-6 and TNF-alpha expression in brains of twitcher, quaking and normal mice
    • LeVine SM, Brown DC (1997) IL-6 and TNF-alpha expression in brains of twitcher, quaking and normal mice. J Neuroimmunol 73:47-56
    • (1997) J Neuroimmunol , vol.73 , pp. 47-56
    • LeVine, S.M.1    Brown, D.C.2
  • 66
    • 26244441528 scopus 로고    scopus 로고
    • Compartmentalization of class II antigen presentation: Contribution of cytoplasmic and endosomal processing
    • Li P, Gregg JL, Wang N, Zhou D, O'Donnell P, Blum JS, Crotzer VL (2005) Compartmentalization of class II antigen presentation: Contribution of cytoplasmic and endosomal processing. Immunol Rev 207:206-217
    • (2005) Immunol Rev , vol.207 , pp. 206-217
    • Li, P.1    Gregg, J.L.2    Wang, N.3    Zhou, D.4    O'Donnell, P.5    Blum, J.S.6    Crotzer, V.L.7
  • 68
    • 0028296086 scopus 로고
    • Monocyte dysfunction in patients with Gaucher disease: Evidence for interference of glucocerebroside with superoxide generation
    • Liel Y, Rudich A, Nagauker-Shriker O, Yermiyahu T, Levy R (1994) Monocyte dysfunction in patients with Gaucher disease: Evidence for interference of glucocerebroside with superoxide generation. Blood 83:2646-2653
    • (1994) Blood , vol.83 , pp. 2646-2653
    • Liel, Y.1    Rudich, A.2    Nagauker-Shriker, O.3    Yermiyahu, T.4    Levy, R.5
  • 69
    • 33748743435 scopus 로고    scopus 로고
    • Distinct patterns of serum immunoreactivity as evidence for multiple brain-directed autoantibodies in juvenile neuronal ceroid lipofuscinosis
    • Lim MJ, Beake J, Bible E, Curran TM, Ramirez-Montealegre D, Pearce DA, Cooper JD (2006) Distinct patterns of serum immunoreactivity as evidence for multiple brain-directed autoantibodies in juvenile neuronal ceroid lipofuscinosis. Neuropathol Appl Neurobiol 32:469-482
    • (2006) Neuropathol Appl Neurobiol , vol.32 , pp. 469-482
    • Lim, M.J.1    Beake, J.2    Bible, E.3    Curran, T.M.4    Ramirez-Montealegre, D.5    Pearce, D.A.6    Cooper, J.D.7
  • 72
    • 0024205835 scopus 로고
    • T cell recognition of bovine ribonuclease. Self/non-self discrimination at the level of binding to the I-Ak molecule
    • Lorenz RG, Tyler AN, Allen PM (1988) T cell recognition of bovine ribonuclease. Self/non-self discrimination at the level of binding to the I-Ak molecule. J Immunol 141:4124-4128
    • (1988) J Immunol , vol.141 , pp. 4124-4128
    • Lorenz, R.G.1    Tyler, A.N.2    Allen, P.M.3
  • 73
    • 0033840811 scopus 로고    scopus 로고
    • Immunodeficiency in alpha-mannosidosis: A matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes
    • Malm D, Halvorsen DS, Tranebjaerg L, Sjursen H (2000) Immunodeficiency in alpha-mannosidosis: A matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. Eur J Pediatr 159:699-703
    • (2000) Eur J Pediatr , vol.159 , pp. 699-703
    • Malm, D.1    Halvorsen, D.S.2    Tranebjaerg, L.3    Sjursen, H.4
  • 76
    • 0028885950 scopus 로고
    • Impaired microbicidal capacity of mononuclear phagocytes from patients with type I Gaucher disease: Partial correction by enzyme replacement therapy
    • Marodi L, Kaposzta R, Toth J, Laszlo A (1995) Impaired microbicidal capacity of mononuclear phagocytes from patients with type I Gaucher disease: Partial correction by enzyme replacement therapy. Blood 86:4645-4649
    • (1995) Blood , vol.86 , pp. 4645-4649
    • Marodi, L.1    Kaposzta, R.2    Toth, J.3    Laszlo, A.4
  • 78
    • 33644921804 scopus 로고    scopus 로고
    • Natural history of type A Niemann-Pick disease: Possible endpoints for therapeutic trials
    • McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP (2006) Natural history of type A Niemann-Pick disease: Possible endpoints for therapeutic trials. Neurology 66:228-232
    • (2006) Neurology , vol.66 , pp. 228-232
    • McGovern, M.M.1    Aron, A.2    Brodie, S.E.3    Desnick, R.J.4    Wasserstein, M.P.5
  • 82
    • 0742269462 scopus 로고    scopus 로고
    • Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease
    • Moller HJ, de Fost M, Aerts H, Hollak C, Moestrup SK (2004) Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease. Eur J Haematol 72:135-139
    • (2004) Eur J Haematol , vol.72 , pp. 135-139
    • Moller, H.J.1    de Fost, M.2    Aerts, H.3    Hollak, C.4    Moestrup, S.K.5
  • 83
    • 33644864788 scopus 로고    scopus 로고
    • Compartmentalized Ras/MAPK signaling
    • Mor A, Philips MR (2006) Compartmentalized Ras/MAPK signaling. Annu Rev Immunol 24:771-800
    • (2006) Annu Rev Immunol , vol.24 , pp. 771-800
    • Mor, A.1    Philips, M.R.2
  • 85
    • 2342589511 scopus 로고    scopus 로고
    • The mucopolysaccharidoses: A heterogeneous group of disorders with variable pediatric presentations
    • Muenzer J (2004) The mucopolysaccharidoses: A heterogeneous group of disorders with variable pediatric presentations. J Pediatr 144:S27-S34
    • (2004) J Pediatr , vol.144
    • Muenzer, J.1
  • 86
    • 0037093476 scopus 로고    scopus 로고
    • Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
    • Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL (2002) Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol Genet 11:1343-1350
    • (2002) Hum Mol Genet , vol.11 , pp. 1343-1350
    • Myerowitz, R.1    Lawson, D.2    Mizukami, H.3    Mi, Y.4    Tifft, C.J.5    Proia, R.L.6
  • 87
    • 0025826050 scopus 로고
    • Lysosomal storage diseases
    • Neufeld EF (1991) Lysosomal storage diseases. Annu Rev Biochem 60:257-280
    • (1991) Annu Rev Biochem , vol.60 , pp. 257-280
    • Neufeld, E.F.1
  • 90
    • 33744530432 scopus 로고    scopus 로고
    • Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole
    • Padilla-Lopez S, Pearce DA (2006) Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole. J Biol Chem 281:10273-10280
    • (2006) J Biol Chem , vol.281 , pp. 10273-10280
    • Padilla-Lopez, S.1    Pearce, D.A.2
  • 92
    • 0036119907 scopus 로고    scopus 로고
    • The origin of fluorescence in the neuronal ceroid lipofuscinoses (Batten disease) and neuron cultures from affected sheep for studies of neurodegeneration
    • Palmer DN, Oswald MJ, Westlake VJ, Kay GW (2002) The origin of fluorescence in the neuronal ceroid lipofuscinoses (Batten disease) and neuron cultures from affected sheep for studies of neurodegeneration. Arch Gerontol Geriatr 34:343-357
    • (2002) Arch Gerontol Geriatr , vol.34 , pp. 343-357
    • Palmer, D.N.1    Oswald, M.J.2    Westlake, V.J.3    Kay, G.W.4
  • 93
    • 0032588924 scopus 로고    scopus 로고
    • IL-6 deficiency causes enhanced pathology in Twitcher (globoid cell leukodystrophy) mice
    • Pedchenko TV, LeVine SM (1999) IL-6 deficiency causes enhanced pathology in Twitcher (globoid cell leukodystrophy) mice. Exp Neurol 158:459-468
    • (1999) Exp Neurol , vol.158 , pp. 459-468
    • Pedchenko, T.V.1    LeVine, S.M.2
  • 94
    • 0034597162 scopus 로고    scopus 로고
    • TNF-receptor 1 deficiency fails to alter the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice) but affords protection following LPS challenge
    • Pedchenko TV, Bronshteyn IG, LeVine SM (2000) TNF-receptor 1 deficiency fails to alter the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice) but affords protection following LPS challenge. J Neuroimmunol 110:186-194
    • (2000) J Neuroimmunol , vol.110 , pp. 186-194
    • Pedchenko, T.V.1    Bronshteyn, I.G.2    LeVine, S.M.3
  • 95
    • 3242710339 scopus 로고    scopus 로고
    • The influence of systemic inflammation on inflammation in the brain: Implications for chronic neurodegenerative disease
    • Perry VH (2004) The influence of systemic inflammation on inflammation in the brain: Implications for chronic neurodegenerative disease. Brain Behav Immun 18:407-413
    • (2004) Brain Behav Immun , vol.18 , pp. 407-413
    • Perry, V.H.1
  • 100
    • 27744565604 scopus 로고    scopus 로고
    • Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease
    • Pontikis CC, Cotman SL, MacDonald ME, Cooper JD (2005) Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease. Neurobiol Dis 20:823-836
    • (2005) Neurobiol Dis , vol.20 , pp. 823-836
    • Pontikis, C.C.1    Cotman, S.L.2    MacDonald, M.E.3    Cooper, J.D.4
  • 101
    • 33746067933 scopus 로고    scopus 로고
    • T-cell receptor signaling events triggering granule exocytosis
    • Radoja S, Frey AB, Vukmanovic S (2006) T-cell receptor signaling events triggering granule exocytosis. Crit Rev Immunol 26:265-290
    • (2006) Crit Rev Immunol , vol.26 , pp. 265-290
    • Radoja, S.1    Frey, A.B.2    Vukmanovic, S.3
  • 103
    • 28744438595 scopus 로고    scopus 로고
    • Defective lysosomal arginine transport in juvenile Batten disease
    • Ramirez-Montealegre D, Pearce DA (2005) Defective lysosomal arginine transport in juvenile Batten disease. Hum Mol Genet 14:3759-3773
    • (2005) Hum Mol Genet , vol.14 , pp. 3759-3773
    • Ramirez-Montealegre, D.1    Pearce, D.A.2
  • 105
    • 33646714143 scopus 로고    scopus 로고
    • Lysosomal dysfunction, cellular pathology and clinical symptoms: Basic principles
    • Reuser AJ, Drost MR (2006) Lysosomal dysfunction, cellular pathology and clinical symptoms: Basic principles. Acta Paediatr Suppl 95:77-82
    • (2006) Acta Paediatr Suppl , vol.95 , pp. 77-82
    • Reuser, A.J.1    Drost, M.R.2
  • 106
    • 0028362563 scopus 로고
    • Transport and intracellular distribution of MHC class II molecules and associated invariant chain in normal and antigen-processing mutant cell lines
    • Riberdy JM, Avva RR, Geuze HJ, Cresswell P (1994) Transport and intracellular distribution of MHC class II molecules and associated invariant chain in normal and antigen-processing mutant cell lines. J Cell Biol 125:1225-1237
    • (1994) J Cell Biol , vol.125 , pp. 1225-1237
    • Riberdy, J.M.1    Avva, R.R.2    Geuze, H.J.3    Cresswell, P.4
  • 107
  • 108
    • 0037762571 scopus 로고    scopus 로고
    • Biosynthesis and degradation of mammalian glycosphingolipids
    • Sandhoff K, Kolter T (2003) Biosynthesis and degradation of mammalian glycosphingolipids. Philos Trans R Soc Lond B Biol Sci 358:847-861
    • (2003) Philos Trans R Soc Lond B Biol Sci , vol.358 , pp. 847-861
    • Sandhoff, K.1    Kolter, T.2
  • 109
    • 27644579993 scopus 로고    scopus 로고
    • Immune surveillance of intracellular pathogens via autophagy
    • Schmid D, Munz C (2005) Immune surveillance of intracellular pathogens via autophagy. Cell Death Differ 12(Suppl 2):1519-1527
    • (2005) Cell Death Differ , vol.12 , Issue.SUPPL. 2 , pp. 1519-1527
    • Schmid, D.1    Munz, C.2
  • 110
    • 33344475671 scopus 로고    scopus 로고
    • Autophagy in innate and adaptive immunity against intracellular pathogens
    • Schmid D, Dengjel J, Schoor O, Stevanovic S, Munz C (2006) Autophagy in innate and adaptive immunity against intracellular pathogens. J Mol Med 84:194-202
    • (2006) J Mol Med , vol.84 , pp. 194-202
    • Schmid, D.1    Dengjel, J.2    Schoor, O.3    Stevanovic, S.4    Munz, C.5
  • 111
    • 0031882520 scopus 로고    scopus 로고
    • Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group
    • Schofer O, Mischo B, Puschel W, Harzer K, Vanier MT (1998) Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group. Eur J Pediatr 157:45-49
    • (1998) Eur J Pediatr , vol.157 , pp. 45-49
    • Schofer, O.1    Mischo, B.2    Puschel, W.3    Harzer, K.4    Vanier, M.T.5
  • 112
    • 0031291717 scopus 로고    scopus 로고
    • Niemann-Pick disease: Mutation update, genotype/phenotype correlations, and prospects for genetic testing
    • Schuchman EH, Miranda SR (1997) Niemann-Pick disease: Mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genet Test 1:13-19
    • (1997) Genet Test , vol.1 , pp. 13-19
    • Schuchman, E.H.1    Miranda, S.R.2
  • 113
    • 4744373445 scopus 로고    scopus 로고
    • The NPC1 protein: Structure implies function
    • Scott C, Ioannou YA (2004) The NPC1 protein: Structure implies function. Biochim Biophys Acta 1685:8-13
    • (2004) Biochim Biophys Acta , vol.1685 , pp. 8-13
    • Scott, C.1    Ioannou, Y.A.2
  • 117
    • 0029967645 scopus 로고    scopus 로고
    • The spectrum of free neuraminic acid storage disease in childhood: Clinical, morphological and biochemical observations in three non-Finnish patients
    • Sewell AC, Poets CF, Degen I, Stoss H, Pontz BF (1996) The spectrum of free neuraminic acid storage disease in childhood: Clinical, morphological and biochemical observations in three non-Finnish patients. Am J Med Genet 63:203-208
    • (1996) Am J Med Genet , vol.63 , pp. 203-208
    • Sewell, A.C.1    Poets, C.F.2    Degen, I.3    Stoss, H.4    Pontz, B.F.5
  • 120
    • 0035977948 scopus 로고    scopus 로고
    • Recent progress in lysosomal alpha-mannosidase and its deficiency
    • Sun H, Wolfe JH (2001) Recent progress in lysosomal alpha-mannosidase and its deficiency. Exp Mol Med 33:1-7
    • (2001) Exp Mol Med , vol.33 , pp. 1-7
    • Sun, H.1    Wolfe, J.H.2
  • 121
    • 0141997303 scopus 로고    scopus 로고
    • Globoid cell leukodystrophy (Krabbe's disease): Update
    • Suzuki K (2003) Globoid cell leukodystrophy (Krabbe's disease): Update. J Child Neurol 18:595-603
    • (2003) J Child Neurol , vol.18 , pp. 595-603
    • Suzuki, K.1
  • 123
    • 15244355223 scopus 로고    scopus 로고
    • Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N -acetylhexosaminyl glycoconjugates
    • Tsuji D, Kuroki A, Ishibashi Y, Itakura T, Kuwahara J, Yamanaka S, Itoh K (2005) Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N -acetylhexosaminyl glycoconjugates. J Neurochem 92:1497-1507
    • (2005) J Neurochem , vol.92 , pp. 1497-1507
    • Tsuji, D.1    Kuroki, A.2    Ishibashi, Y.3    Itakura, T.4    Kuwahara, J.5    Yamanaka, S.6    Itoh, K.7
  • 125
    • 0031899732 scopus 로고    scopus 로고
    • Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote
    • Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W (1998) Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote. Hum Genet 102:69-78
    • (1998) Hum Genet , vol.102 , pp. 69-78
    • Vervoort, R.1    Gitzelmann, R.2    Bosshard, N.3    Maire, I.4    Liebaers, I.5    Lissens, W.6
  • 126
    • 26944476658 scopus 로고    scopus 로고
    • Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice
    • Virmani T, Gupta P, Liu X, Kavalali ET, Hofmann SL (2005) Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice. Neurobiol Dis 20:314-323
    • (2005) Neurobiol Dis , vol.20 , pp. 314-323
    • Virmani, T.1    Gupta, P.2    Liu, X.3    Kavalali, E.T.4    Hofmann, S.L.5
  • 127
    • 0025139019 scopus 로고
    • A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice
    • Vogler C, Birkenmeier EH, Sly WS, Levy B, Pegors C, Kyle JW, Beamer WG (1990) A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice. Am J Pathol 136:207-217
    • (1990) Am J Pathol , vol.136 , pp. 207-217
    • Vogler, C.1    Birkenmeier, E.H.2    Sly, W.S.3    Levy, B.4    Pegors, C.5    Kyle, J.W.6    Beamer, W.G.7
  • 128
    • 0034741927 scopus 로고    scopus 로고
    • Murine mucopolysaccharidosis VIL: Impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease
    • Vogler C, Barker J, Sands MS, Levy B, Galvin N, Sly WS (2001) Murine mucopolysaccharidosis VIL: Impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease. Pediatr Dev Pathol 4:421-433
    • (2001) Pediatr Dev Pathol , vol.4 , pp. 421-433
    • Vogler, C.1    Barker, J.2    Sands, M.S.3    Levy, B.4    Galvin, N.5    Sly, W.S.6
  • 129
    • 0034718598 scopus 로고    scopus 로고
    • Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation
    • Wada R, Tifft CJ, Proia RL (2000) Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation. Proc Natl Acad Sci USA 97:10954-10959
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 10954-10959
    • Wada, R.1    Tifft, C.J.2    Proia, R.L.3
  • 130
    • 0035145332 scopus 로고    scopus 로고
    • Antigen processing in the endocytic compartment
    • Watts C (2001) Antigen processing in the endocytic compartment. Curr Opin Immunol 13:26-31
    • (2001) Curr Opin Immunol , vol.13 , pp. 26-31
    • Watts, C.1
  • 132
    • 0033936785 scopus 로고    scopus 로고
    • Infiltration of hematogenous lineage cells into the demyelinating central nervous system of twitcher mice
    • Wu YP, Matsuda J, Kubota A, Suzuki K (2000) Infiltration of hematogenous lineage cells into the demyelinating central nervous system of twitcher mice. J Neuropathol Exp Neurol 59:628-639
    • (2000) J Neuropathol Exp Neurol , vol.59 , pp. 628-639
    • Wu, Y.P.1    Matsuda, J.2    Kubota, A.3    Suzuki, K.4
  • 133
    • 0034759421 scopus 로고    scopus 로고
    • Expression of immune-related molecules is downregulated in twitcher mice following bone marrow transplantation
    • Wu YP, McMahon EJ, Matsuda J, Suzuki K, Matsushima GK (2001) Expression of immune-related molecules is downregulated in twitcher mice following bone marrow transplantation. J Neuropathol Exp Neurol 60:1062-1074
    • (2001) J Neuropathol Exp Neurol , vol.60 , pp. 1062-1074
    • Wu, Y.P.1    McMahon, E.J.2    Matsuda, J.3    Suzuki, K.4    Matsushima, G.K.5
  • 134
    • 2942563944 scopus 로고    scopus 로고
    • Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice
    • Wu YP, Proia RL (2004) Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Proc Natl Acad Sci USA 101:8425-8430
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 8425-8430
    • Wu, Y.P.1    Proia, R.L.2
  • 137
    • 33847303003 scopus 로고    scopus 로고
    • Cathepsin E deficiency induces a novel form of lysosomal storage disorder showing the accumulation of lysosomal membrane sialoglycoproteins and the elevation of lysosomal pH in macrophages
    • Yanagawa M, Tsukuba T, Nishioku T, Okamoto Y, Okamoto K, Takii R, Terada Y, Nakayama KI, Kadowaki T, Yamamoto K (2007) Cathepsin E deficiency induces a novel form of lysosomal storage disorder showing the accumulation of lysosomal membrane sialoglycoproteins and the elevation of lysosomal pH in macrophages. J Biol Chem 282:1851-1862
    • (2007) J Biol Chem , vol.282 , pp. 1851-1862
    • Yanagawa, M.1    Tsukuba, T.2    Nishioku, T.3    Okamoto, Y.4    Okamoto, K.5    Takii, R.6    Terada, Y.7    Nakayama, K.I.8    Kadowaki, T.9    Yamamoto, K.10
  • 139
    • 0000391671 scopus 로고
    • Decrease in macrophage antigen catabolism caused by ammonia and chloroquine is associated with inhibition of antigen presentation to T cells
    • Ziegler HK, Unanue ER (1982) Decrease in macrophage antigen catabolism caused by ammonia and chloroquine is associated with inhibition of antigen presentation to T cells. Proc Natl Acad Sci USA 79:175-178
    • (1982) Proc Natl Acad Sci USA , vol.79 , pp. 175-178
    • Ziegler, H.K.1    Unanue, E.R.2
  • 140
    • 0027204822 scopus 로고
    • Correction of neutrophil chemotaxis defect in patients with Gaucher disease by low-dose enzyme replacement therapy
    • Zimran A, Abrahamov A, Aker M, Matzner Y (1993) Correction of neutrophil chemotaxis defect in patients with Gaucher disease by low-dose enzyme replacement therapy. Am J Hematol 43:69-71
    • (1993) Am J Hematol , vol.43 , pp. 69-71
    • Zimran, A.1    Abrahamov, A.2    Aker, M.3    Matzner, Y.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.