메뉴 건너뛰기




Volumn 32, Issue 2, 2009, Pages 181-189

Pathogenic cascades in lysosomal disease - Why so complex?

Author keywords

[No Author keywords available]

Indexed keywords

PROTEASOME; UBIQUITIN;

EID: 64449085191     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1040-5     Document Type: Conference Paper
Times cited : (109)

References (47)
  • 1
    • 0036606501 scopus 로고    scopus 로고
    • Receptor trafficking and the plasticity of excitatory synapses
    • doi: 10.1016/S0959-4388(02)00329-X
    • Barry MF, Ziff EB (2002) Receptor trafficking and the plasticity of excitatory synapses. Curr Opin Neurobiol 12: 279-286. doi: 10.1016/ S0959-4388(02)00329-X.
    • (2002) Curr Opin Neurobiol , vol.12 , pp. 279-286
    • Barry, M.F.1    Ziff, E.B.2
  • 2
    • 0000216808 scopus 로고    scopus 로고
    • Gaucher disease
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
    • Beutler E, Grabowski G (2001) Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3635-3668.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3635-3668
    • Beutler, E.1    Grabowski, G.2
  • 3
    • 0141918783 scopus 로고    scopus 로고
    • AMPA receptor trafficking at excitatory synapses
    • doi: 10.1016/S0896-6273(03)00640-8
    • Bredt DS, Nicoll RA (2003) AMPA receptor trafficking at excitatory synapses. Neuron 40: 361-379. doi: 10.1016/S0896-6273(03)00640-8.
    • (2003) Neuron , vol.40 , pp. 361-379
    • Bredt, D.S.1    Nicoll, R.A.2
  • 4
    • 34547750315 scopus 로고    scopus 로고
    • Endosomal transport of neurotrophins: Roles in signaling and neurodegenerative disease
    • doi: 10.1002/dneu.20513
    • Bronfman FC, Escudero CA, Weis J, Kruttgen A (2007) Endosomal transport of neurotrophins: Roles in signaling and neurodegenerative disease. Dev Neurobiol 67 (9): 1183-1203. doi: 10.1002/dneu.20513.
    • (2007) Dev Neurobiol , vol.67 , Issue.9 , pp. 1183-1203
    • Bronfman, F.C.1    Escudero, C.A.2    Weis, J.3    Kruttgen, A.4
  • 5
    • 33745976466 scopus 로고    scopus 로고
    • Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
    • doi: 10.1074/jbc.M602180200
    • Cao Y, Espinola JA, Fossale E, et al (2006) Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J. Biol Chem 281: 20483-20493. doi: 10.1074/jbc.M602180200.
    • (2006) J. Biol Chem , vol.281 , pp. 20483-20493
    • Cao, Y.1    Espinola, J.A.2    Fossale, E.3
  • 6
    • 0442323561 scopus 로고    scopus 로고
    • Autophagy: In sickness and in health
    • doi: 10.1016/j.tcb.2003.12.002
    • Cuervo AM (2004) Autophagy: In sickness and in health. Trends Cell Biol 14: 70-77. doi: 10.1016/j.tcb.2003.12.002.
    • (2004) Trends Cell Biol , vol.14 , pp. 70-77
    • Cuervo, A.M.1
  • 7
    • 33645147348 scopus 로고    scopus 로고
    • Gangliosides as apoptotic signals in ER stress response
    • d'Azzo A, Tessitore A, Sano R (2006) Gangliosides as apoptotic signals in ER stress response. Cell Death Differ 13: 404-413.
    • (2006) Cell Death Differ , vol.13 , pp. 404-413
    • d'Azzo, A.1    Tessitore, A.2    Sano, R.3
  • 8
    • 0026751048 scopus 로고
    • Fabry disease: Immunocytochemical characterization of neuronal involvement
    • deVeber GA, Schwarting GA, Kolodny EH, Kowall NW (1992) Fabry disease: immunocytochemical characterization of neuronal involvement. Ann Neurol. 31: 409-415.
    • (1992) Ann Neurol. , vol.31 , pp. 409-415
    • deVeber, G.A.1    Schwarting, G.A.2    Kolodny, E.H.3    Kowall, N.W.4
  • 9
    • 0017260840 scopus 로고
    • Toward enzyme therapy for lysosomal storage diseases
    • Desnick RJ, Thorpe SR, Fiddler M (1976) Toward enzyme therapy for lysosomal storage diseases. Physiol Rev 56: 57-99.
    • (1976) Physiol Rev , vol.56 , pp. 57-99
    • Desnick, R.J.1    Thorpe, S.R.2    Fiddler, M.3
  • 11
    • 2942652829 scopus 로고    scopus 로고
    • The pathogenesis of glycosphingolipid storage disorders
    • Ginzburg L, Kacher Y, Futerman AH (2004) The pathogenesis of glycosphingolipid storage disorders. Semi Cell Dev Biol 15: 417-431.
    • (2004) Semi Cell Dev Biol , vol.15 , pp. 417-431
    • Ginzburg, L.1    Kacher, Y.2    Futerman, A.H.3
  • 12
    • 0041700117 scopus 로고    scopus 로고
    • Cholesterol accumulation in neurons with NPC1 dysfunction is ganglioside-dependent
    • Gondré-Lewis M, Walkley SU (2003) Cholesterol accumulation in neurons with NPC1 dysfunction is ganglioside-dependent. Curr Biol 13: 1324-1329.
    • (2003) Curr Biol , vol.13 , pp. 1324-1329
    • Gondré-Lewis, M.1    Walkley, S.U.2
  • 13
    • 3142774112 scopus 로고    scopus 로고
    • Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone
    • Griffin LD, Gong W, Verot L, Mellon SH (2004) Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone. Nat Med 10: 704-711.
    • (2004) Nat Med , vol.10 , pp. 704-711
    • Griffin, L.D.1    Gong, W.2    Verot, L.3    Mellon, S.H.4
  • 14
    • 33745192802 scopus 로고    scopus 로고
    • Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
    • Hara T, Nakamura K, Matsui M, et al (2006) Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. Nature 441: 885-889.
    • (2006) Nature , vol.441 , pp. 885-889
    • Hara, T.1    Nakamura, K.2    Matsui, M.3
  • 15
    • 0001767013 scopus 로고
    • Progress in gastroenterology: Inborn lysosomal diseases
    • Hers HG (1965) Progress in gastroenterology: Inborn lysosomal diseases. Gastroenterology 48: 625-633.
    • (1965) Gastroenterology , vol.48 , pp. 625-633
    • Hers, H.G.1
  • 16
    • 13844275312 scopus 로고    scopus 로고
    • Long-distance retrograde neurotrophic signaling
    • Howe CL, Mobley WC (2005) Long-distance retrograde neurotrophic signaling. Curr Opin Neurobiol 15: 40-48.
    • (2005) Curr Opin Neurobiol , vol.15 , pp. 40-48
    • Howe, C.L.1    Mobley, W.C.2
  • 17
    • 34250205191 scopus 로고    scopus 로고
    • The role of the GluR2 subunit in AMPA receptor function and synaptic plasticity
    • Isaac JTR, Ashby MC, McBain CJ (2007) The role of the GluR2 subunit in AMPA receptor function and synaptic plasticity. Neuron 54: 859-871.
    • (2007) Neuron , vol.54 , pp. 859-871
    • Isaac, J.T.R.1    Ashby, M.C.2    McBain, C.J.3
  • 18
    • 33646516647 scopus 로고    scopus 로고
    • Gangliosides trigger inflammatory responses via TLR4 in brain glia
    • Jou I, Lee JH, Park SY, Yoon HJ, Joe E-H, Park EJ (2006) Gangliosides trigger inflammatory responses via TLR4 in brain glia. Am J Pathol 168: 1619-1630.
    • (2006) Am J Pathol , vol.168 , pp. 1619-1630
    • Jou, I.1    Lee, J.H.2    Park, S.Y.3    Yoon, H.J.4    Joe, E.-H.5    Park, E.J.6
  • 19
    • 25444443570 scopus 로고    scopus 로고
    • Principles of lysosomal membrane digestion: Stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids
    • Kolter T, Sandhoff K (2005) Principles of lysosomal membrane digestion: Stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids. Annu Rev Cell Dev Biol 21: 81-103.
    • (2005) Annu Rev Cell Dev Biol , vol.21 , pp. 81-103
    • Kolter, T.1    Sandhoff, K.2
  • 20
    • 33646800306 scopus 로고    scopus 로고
    • Loss of autophagy in the central nervous system causes neurodegeneration in mice
    • Komatsu M, Waguri S, Chiba T, et al (2006) Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 441: 880-884.
    • (2006) Nature , vol.441 , pp. 880-884
    • Komatsu, M.1    Waguri, S.2    Chiba, T.3
  • 21
    • 33750985356 scopus 로고    scopus 로고
    • Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins
    • Kyttälä A, Lahtinen U, Braulke T, Hofmann SL (2006) Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. Biochim Biophys Acta 1762: 920-933.
    • (2006) Biochim Biophys Acta , vol.1762 , pp. 920-933
    • Kyttälä, A.1    Lahtinen, U.2    Braulke, T.3    Hofmann, S.L.4
  • 22
    • 0033807781 scopus 로고    scopus 로고
    • Cellular and molecular mechanisms of dendrite growth
    • McAllister KA (2001) Cellular and molecular mechanisms of dendrite growth. Cerebral Cortex 10: 963-973.
    • (2001) Cerebral Cortex , vol.10 , pp. 963-973
    • McAllister, K.A.1
  • 23
    • 9744229206 scopus 로고    scopus 로고
    • Differential subcellular localization of cholesterol, gangliosides and glycosaminoglycans in murine models of mucopolysaccharide storage disorders
    • McGlynn R, Dobrenis K, Walkley SU (2004) Differential subcellular localization of cholesterol, gangliosides and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol 480: 415-426.
    • (2004) J Comp Neurol , vol.480 , pp. 415-426
    • McGlynn, R.1    Dobrenis, K.2    Walkley, S.U.3
  • 24
    • 0000869162 scopus 로고    scopus 로고
    • The mucopolysaccharidoses
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
    • Neufeld E, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3421-3452.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3421-3452
    • Neufeld, E.1    Muenzer, J.2
  • 25
    • 34548068588 scopus 로고    scopus 로고
    • Lipid trafficking defects increase beclin-1 and activate autophagy in Niemann-Pick type C disease
    • Pacheco CD, Lieberman AP (2007) Lipid trafficking defects increase beclin-1 and activate autophagy in Niemann-Pick type C disease. Autophagy 3: 487-489.
    • (2007) Autophagy , vol.3 , pp. 487-489
    • Pacheco, C.D.1    Lieberman, A.P.2
  • 26
    • 34447302577 scopus 로고    scopus 로고
    • Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects
    • Pacheco CD, Kunkel R, Lieberman AP (2007) Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects. Hum Mol Genet 16: 1495-1503.
    • (2007) Hum Mol Genet , vol.16 , pp. 1495-1503
    • Pacheco, C.D.1    Kunkel, R.2    Lieberman, A.P.3
  • 27
    • 0041989616 scopus 로고    scopus 로고
    • Induction of dendritic spines by an extracellular domain of AMPA receptor subunit GluR2
    • Passafaro M, Nakagawa T, Sala C, Sheng M (2003) Induction of dendritic spines by an extracellular domain of AMPA receptor subunit GluR2. Nature 424: 677-681.
    • (2003) Nature , vol.424 , pp. 677-681
    • Passafaro, M.1    Nakagawa, T.2    Sala, C.3    Sheng, M.4
  • 28
    • 0032796033 scopus 로고    scopus 로고
    • Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p
    • Pearce DA, Nosel SA, Herman F (1999) Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p. Mol Genet Metab 66: 320-323.
    • (1999) Mol Genet Metab , vol.66 , pp. 320-323
    • Pearce, D.A.1    Nosel, S.A.2    Herman, F.3
  • 29
  • 30
    • 10644282870 scopus 로고    scopus 로고
    • Lysosomal defects and storage
    • In: Platt FM, Walkley SU, eds. Oxford: Oxford University Press, Chapter
    • Platt FM, Walkley SU (2004) Lysosomal defects and storage, In: Platt FM, Walkley SU, eds. Lysosomal Disorders of the Brain. Oxford: Oxford University Press, Chapter 2, 32-49.
    • (2004) Lysosomal Disorders of the Brain , vol.2 , pp. 32-49
    • Platt, F.M.1    Walkley, S.U.2
  • 31
    • 33644769212 scopus 로고    scopus 로고
    • Endocytosis conducts the cell signaling orchestra
    • Pol S, Di Fiore PP (2006) Endocytosis conducts the cell signaling orchestra. Cell 124: 897-900.
    • (2006) Cell , vol.124 , pp. 897-900
    • Pol, S.1    Di Fiore, P.P.2
  • 32
    • 48849102411 scopus 로고    scopus 로고
    • The function of CLN3p, the Batten disease protein
    • Rakheja D, Narayan SB, Bennett MJ (2008) The function of CLN3p, the Batten disease protein. Mol Gen Metab 93: 269-274.
    • (2008) Mol Gen Metab , vol.93 , pp. 269-274
    • Rakheja, D.1    Narayan, S.B.2    Bennett, M.J.3
  • 33
    • 33749040671 scopus 로고    scopus 로고
    • Role of autophagy in the clearance of mutant huntingtin: A step toward therapy?
    • Ravikumar BR, Rubinsztein DC (2006) Role of autophagy in the clearance of mutant huntingtin: A step toward therapy? Mol Aspects Med 27: 520-527.
    • (2006) Mol Aspects Med , vol.27 , pp. 520-527
    • Ravikumar, B.R.1    Rubinsztein, D.C.2
  • 34
    • 0025689587 scopus 로고
    • Metabolism and intracellular transport of glycosphingolipids
    • Schwarzmann G, Sandhoff K (1990) Metabolism and intracellular transport of glycosphingolipids. Biochemistry 29: 10865-10871.
    • (1990) Biochemistry , vol.29 , pp. 10865-10871
    • Schwarzmann, G.1    Sandhoff, K.2
  • 35
    • 37549066697 scopus 로고    scopus 로고
    • A block of autophagy in lysosomal storage disorders
    • Settembre C, Fraldi A, Jahreiss L, et al (2008) A block of autophagy in lysosomal storage disorders. Hum Mol Genet 17: 119-129.
    • (2008) Hum Mol Genet , vol.17 , pp. 119-129
    • Settembre, C.1    Fraldi, A.2    Jahreiss, L.3
  • 36
    • 12444296116 scopus 로고    scopus 로고
    • Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
    • Tayebi N, Walker J, Stubblefield B, et al (2003) Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 79: 104-109.
    • (2003) Mol Genet Metab , vol.79 , pp. 104-109
    • Tayebi, N.1    Walker, J.2    Stubblefield, B.3
  • 37
    • 0037518448 scopus 로고    scopus 로고
    • Salvage pathways in glycosphingolipid metabolism
    • Tettamanti G, Bassi R, Viani P, Riboni L (2003) Salvage pathways in glycosphingolipid metabolism. Biochemie 85: 432-437.
    • (2003) Biochemie , vol.85 , pp. 432-437
    • Tettamanti, G.1    Bassi, R.2    Viani, P.3    Riboni, L.4
  • 38
    • 0038777085 scopus 로고    scopus 로고
    • Neurobiology and cellular pathogenesis of glycolipid storage diseases
    • Walkley SU (2003) Neurobiology and cellular pathogenesis of glycolipid storage diseases. Trans R Soc B 358: 893-904.
    • (2003) Trans R Soc B , vol.358 , pp. 893-904
    • Walkley, S.U.1
  • 39
    • 2942662184 scopus 로고    scopus 로고
    • Pathogenic cascades and brain dysfunction
    • In: Platt FM, Walkley SU, eds. Oxford: Oxford University Press, Chapter
    • Walkley SU (2004a) Pathogenic cascades and brain dysfunction, In: Platt FM, Walkley SU, eds. Lysosomal Disorders of the Brain. Oxford: Oxford University Press, Chapter 12, 290-324.
    • (2004) Lysosomal Disorders of the Brain , vol.12 , pp. 290-324
    • Walkley, S.U.1
  • 40
    • 2942672495 scopus 로고    scopus 로고
    • Secondary accumulation of gangliosides in lysosomal storage disorders
    • Walkley SU (2004b) Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Biol Dev 15: 433-444.
    • (2004) Semin Cell Biol Dev , vol.15 , pp. 433-444
    • Walkley, S.U.1
  • 41
    • 33947597422 scopus 로고    scopus 로고
    • Pathogenic mechanisms in lysosomal disease: A reappraisal of the role of the lysosome
    • Walkley SU (2007) Pathogenic mechanisms in lysosomal disease: A reappraisal of the role of the lysosome. Acta Paediatr 96 (s455): 26-32.
    • (2007) Acta Paediatr , vol.96 , Issue.s455 , pp. 26-32
    • Walkley, S.U.1
  • 42
    • 4744365602 scopus 로고    scopus 로고
    • Consequences of NPC1 and NPC2 loss of function in neurons
    • Walkley SU, Suzuki K (2004) Consequences of NPC1 and NPC2 loss of function in neurons. Biochim Biophys Acta 1685: 48-62.
    • (2004) Biochim Biophys Acta , vol.1685 , pp. 48-62
    • Walkley, S.U.1    Suzuki, K.2
  • 43
    • 0025769357 scopus 로고
    • Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement
    • Walkley SU, Baker HJ, Rattazzi MC, Haskins ME, Wu J-Y (1991) Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement. J Neurol Sci 104: 1-8.
    • (1991) J Neurol Sci , vol.104 , pp. 1-8
    • Walkley, S.U.1    Baker, H.J.2    Rattazzi, M.C.3    Haskins, M.E.4    Wu, J.-Y.5
  • 44
    • 0033797738 scopus 로고    scopus 로고
    • Gangliosides as modulators of dendritogenesis in storage disease-affected and normal pyramidal neurons
    • Walkley SU, Zervas M, Wiseman S (2000) Gangliosides as modulators of dendritogenesis in storage disease-affected and normal pyramidal neurons. Cerebral Cortex 10: 1028-1037.
    • (2000) Cerebral Cortex , vol.10 , pp. 1028-1037
    • Walkley, S.U.1    Zervas, M.2    Wiseman, S.3
  • 45
    • 0002054185 scopus 로고    scopus 로고
    • Galactosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe disease)
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. New York: McGraw-Hill
    • Wenger DA, Suzuki K, Suzuki Y, Suzuki K (2001) Galactosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe disease). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3669-3694.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3669-3694
    • Wenger, D.A.1    Suzuki, K.2    Suzuki, Y.3    Suzuki, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.