메뉴 건너뛰기




Volumn 1685, Issue 1-3, 2004, Pages 48-62

Consequences of NPC1 and NPC2 loss of function in mammalian neurons

Author keywords

Axonal spheroid; Dendritogenesis; Endosome; Golgi fragmentation; Lysosome; Neurodegeneration; Neurofibrillary tangle; Niemann Pick type C

Indexed keywords

MEMBRANE PROTEIN; NIEMANN PICK C 1 PROTEIN; NIEMANN PICK C 2 PROTEIN; UNCLASSIFIED DRUG;

EID: 4744365602     PISSN: 13881981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbalip.2004.08.011     Document Type: Review
Times cited : (233)

References (103)
  • 1
    • 70449185285 scopus 로고
    • Niemannâ€"Pick disease: A review of eighteen patients
    • A.C. Crocker, and S. Farber Niemannâ€"Pick disease: a review of eighteen patients Medicine 37 1957 1 95
    • (1957) Medicine , vol.37 , pp. 1-95
    • Crocker, A.C.1    Farber, S.2
  • 3
    • 0001767013 scopus 로고
    • Progress in gastroenterology: Inborn lysosomal diseases
    • H.G. Hers Progress in gastroenterology: inborn lysosomal diseases Gastroenterology 48 1965 625 633
    • (1965) Gastroenterology , vol.48 , pp. 625-633
    • Hers, H.G.1
  • 4
    • 0013881132 scopus 로고
    • The metabolism of sphingomyelin: II. Evidence of an enzymatic deficiency in Niemannâ€"Pick disease
    • R.O. Brady, J.N. Kanfer, M.B. Mock, and D.S. Fredrickson The metabolism of sphingomyelin: II. Evidence of an enzymatic deficiency in Niemannâ€"Pick disease Proc. Natl. Acad. Sci. U. S. A. 55 1966 366 369
    • (1966) Proc. Natl. Acad. Sci. U. S. A. , vol.55 , pp. 366-369
    • Brady, R.O.1    Kanfer, J.N.2    Mock, M.B.3    Fredrickson, D.S.4
  • 5
    • 0000815355 scopus 로고
    • Niemannâ€"Pick disease type C: A cellular cholesterol lipidosis
    • C.R. Scriver A.L. Beaudet W.S. Sly D. Valle seventh edition McGraw-Hill New York
    • P.G. Pentchev, M.T. Vanier, K. Suzuki, and M.C. Patterson Niemannâ€"Pick disease type C: a cellular cholesterol lipidosis C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic and Molecular Basis of Inherited Disease seventh edition 1995 McGraw-Hill New York 2625 2639
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 2625-2639
    • Pentchev, P.G.1    Vanier, M.T.2    Suzuki, K.3    Patterson, M.C.4
  • 7
    • 0034704244 scopus 로고    scopus 로고
    • Transmembrane molecular pump activity of Niemannâ€"Pick C1 protein
    • J.P. Davies, F.W. Chen, and Y.A. Ioannou Transmembrane molecular pump activity of Niemannâ€"Pick C1 protein Science 290 2000 2295 2298
    • (2000) Science , vol.290 , pp. 2295-2298
    • Davies, J.P.1    Chen, F.W.2    Ioannou, Y.A.3
  • 9
    • 0041700117 scopus 로고    scopus 로고
    • Cholesterol accumulation in NPC1-deficient neurons is ganglioside-dependent
    • M.C. Gondré-Lewis, and S.U. Walkley Cholesterol accumulation in NPC1-deficient neurons is ganglioside-dependent Curr. Biol. 13 2003 2003 1324 1329
    • (2003) Curr. Biol. , vol.13 , Issue.2003 , pp. 1324-1329
    • Gondré-Lewis, M.C.1    Walkley, S.U.2
  • 11
    • 0037418188 scopus 로고    scopus 로고
    • Structure of a cholesterol-binding protein deficient in Niemannâ€"Pick type C2 disease
    • N. Friedland, H.L. Liou, P. Lobel, and A.M. Stock Structure of a cholesterol-binding protein deficient in Niemannâ€"Pick type C2 disease Proc. Natl. Acad. Sci. U. S. A. 100 2003 2512 2517
    • (2003) Proc. Natl. Acad. Sci. U. S. A. , vol.100 , pp. 2512-2517
    • Friedland, N.1    Liou, H.L.2    Lobel, P.3    Stock, A.M.4
  • 14
    • 0019977775 scopus 로고
    • Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics
    • M.D. Morris, C. Bhuvaneswaran, H. Shio, and S. Fowler Lysosome lipid storage disorder in NCTR-BALB/c mice. I. Description of the disease and genetics Am. J. Pathol. 108 1982 140 149
    • (1982) Am. J. Pathol. , vol.108 , pp. 140-149
    • Morris, M.D.1    Bhuvaneswaran, C.2    Shio, H.3    Fowler, S.4
  • 16
    • 0034192462 scopus 로고    scopus 로고
    • A model for Niemannâ€"Pick type C disease in the nematode Caenorhabditis elegans
    • M. Sym, M. Basson, and C. Johnson A model for Niemannâ€" Pick type C disease in the nematode Caenorhabditis elegans Curr. Biol. 10 2000 527 530
    • (2000) Curr. Biol. , vol.10 , pp. 527-530
    • Sym, M.1    Basson, M.2    Johnson, C.3
  • 18
    • 0141886877 scopus 로고    scopus 로고
    • Niemannâ€"Pick disease type C
    • M.T. Vanier, and G. Millat Niemannâ€"Pick disease type C Clin. Genet. 64 2003 269 281
    • (2003) Clin. Genet. , vol.64 , pp. 269-281
    • Vanier, M.T.1    Millat, G.2
  • 19
    • 0034987798 scopus 로고    scopus 로고
    • Niemannâ€"Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
    • G. Millat, C. Marcais, C. Tomasetto, K. Chikh, A.H. Fenson, K. Harzer, D.A. Wenger, K. Ohno, and M.T. Vanier Niemannâ€"Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop Am. J. Hum. Genet. 68 2001 1373 1385
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1373-1385
    • Millat, G.1    Marcais, C.2    Tomasetto, C.3    Chikh, K.4    Fenson, A.H.5    Harzer, K.6    Wenger, D.A.7    Ohno, K.8    Vanier, M.T.9
  • 21
    • 0012664877 scopus 로고    scopus 로고
    • Lysosomal disease
    • D.I. Graham P. Lantos seventh edition Arnold London
    • K. Suzuki, and K. Suzuki Lysosomal disease D.I. Graham P. Lantos Greenfield's Neuropathology seventh edition 2002 Arnold London 666 670 (Chap. 11)
    • (2002) Greenfield's Neuropathology , pp. 666-670
    • Suzuki, K.1    Suzuki, K.2
  • 22
    • 0032892536 scopus 로고    scopus 로고
    • Lipid changes in Niemannâ€"Pick disease type C brain: Personal experience and review of the literature
    • M.T. Vanier Lipid changes in Niemannâ€"Pick disease type C brain: personal experience and review of the literature Neurochem. Res. 24 1999 481 489
    • (1999) Neurochem. Res. , vol.24 , pp. 481-489
    • Vanier, M.T.1
  • 23
    • 0035142802 scopus 로고    scopus 로고
    • Neurons in Niemannâ€"Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations
    • M. Zervas, K. Dobrenis, and S.U. Walkley Neurons in Niemann†"Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations J. Neuropathol. Exp. Neurol. 60 2001 49 64
    • (2001) J. Neuropathol. Exp. Neurol. , vol.60 , pp. 49-64
    • Zervas, M.1    Dobrenis, K.2    Walkley, S.U.3
  • 24
    • 2042443454 scopus 로고
    • Studies in Tayâ€"Sachs disease: II. Ultrastructure of the cerebrum
    • R.D. Terry, and M. Weiss Studies in Tayâ€"Sachs disease: II. Ultrastructure of the cerebrum J. Neuropathol. Exp. Neurol. 22 1963 18 55
    • (1963) J. Neuropathol. Exp. Neurol. , vol.22 , pp. 18-55
    • Terry, R.D.1    Weiss, M.2
  • 25
    • 0017114511 scopus 로고
    • Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage diseases
    • D.P. Purpura, and K. Suzuki Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage diseases Brain Res. 116 1976 1 21
    • (1976) Brain Res. , vol.116 , pp. 1-21
    • Purpura, D.P.1    Suzuki, K.2
  • 27
    • 0029670774 scopus 로고    scopus 로고
    • T Topology of glycosphingolipid degradation
    • K. Sandhoff, and T. Kolter T Topology of glycosphingolipid degradation Trends Cell Biol. 6 1996 98 103
    • (1996) Trends Cell Biol. , vol.6 , pp. 98-103
    • Sandhoff, K.1    Kolter, T.2
  • 28
    • 0021047598 scopus 로고
    • Isocortical pathology in type C Niemannâ€"Pick disease. A combined Golgi-Pigmentarchitectonic study
    • H. Braak, E. Braak, and H.H. Goebel Isocortical pathology in type C Niemannâ€"Pick disease. A combined Golgi-Pigmentarchitectonic study J. Neuropathol. Exp. Neurol. 42 1983 671 687
    • (1983) J. Neuropathol. Exp. Neurol. , vol.42 , pp. 671-687
    • Braak, H.1    Braak, E.2    Goebel, H.H.3
  • 29
    • 0030876712 scopus 로고    scopus 로고
    • GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemannâ€"Pick disease type C
    • P.A. March, M.A. Thrall, D.E. Brown, T.W. Mitchell, A.C. Lowenthal, and S.U. Walkley GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemannâ€"Pick disease type C Acta Neuropathol. 94 1997 164 172
    • (1997) Acta Neuropathol. , vol.94 , pp. 164-172
    • March, P.A.1    Thrall, M.A.2    Brown, D.E.3    Mitchell, T.W.4    Lowenthal, A.C.5    Walkley, S.U.6
  • 31
    • 2942662184 scopus 로고    scopus 로고
    • Pathogenic cascades and brain dysfunction
    • F.M. Platt S.U. Walkley Oxford University Press
    • S.U. Walkley Pathogenic cascades and brain dysfunction F.M. Platt S.U. Walkley Lysosomal Disorders of the Brain 2004 Oxford University Press 290 324 (Chap. 12)
    • (2004) Lysosomal Disorders of the Brain , pp. 290-324
    • Walkley, S.U.1
  • 33
    • 0014103791 scopus 로고
    • A comparative electron microscopic study of reactive, degenerating, regenerating and dystrophic axons
    • P.W. Lampert A comparative electron microscopic study of reactive, degenerating, regenerating and dystrophic axons J. Neuropathol. Exp. Neurol. 26 1967 345 368
    • (1967) J. Neuropathol. Exp. Neurol. , vol.26 , pp. 345-368
    • Lampert, P.W.1
  • 34
    • 1042306482 scopus 로고    scopus 로고
    • Cellular pathology of the central nervous system
    • D.I. Graham P. Lantos seventh edition Arnold London
    • M.B. Graeber, W.F. Blakemore, and G.W. Kreutzberg Cellular pathology of the central nervous system D.I. Graham P. Lantos Greenfield's Neuropathology seventh edition 2002 Arnold London 134 135
    • (2002) Greenfield's Neuropathology , pp. 134-135
    • Graeber, M.B.1    Blakemore, W.F.2    Kreutzberg, G.W.3
  • 36
    • 0028929548 scopus 로고
    • Neurofibrillary tangles in Niemannâ€"Pick disease type C
    • S. Love, L.R. Bridges, and C.P Case Neurofibrillary tangles in Niemannâ€"Pick disease type C Brain 118 1995 119 129
    • (1995) Brain , vol.118 , pp. 119-129
    • Love, S.1    Bridges, L.R.2    Case, C.P.3
  • 37
    • 0031543816 scopus 로고    scopus 로고
    • Niemannâ€"Pick disease type C: Neuropathology revisited
    • K. Suzuki, C.C. Parker, and P.G. Pentchev Niemannâ€"Pick disease type C: neuropathology revisited Dev. Brain Dysfunct. 10 1997 306 320
    • (1997) Dev. Brain Dysfunct. , vol.10 , pp. 306-320
    • Suzuki, K.1    Parker, C.C.2    Pentchev, P.G.3
  • 39
    • 0034925263 scopus 로고    scopus 로고
    • Tangle-bearing neurons contain more free cholesterol than adjacent tangle-free neurons
    • R. Dist, V. Meske, and T.G. Ohm Tangle-bearing neurons contain more free cholesterol than adjacent tangle-free neurons Acta Neuropathol. 101 2001 547 554
    • (2001) Acta Neuropathol. , vol.101 , pp. 547-554
    • Dist, R.1    Meske, V.2    Ohm, T.G.3
  • 40
    • 0036715016 scopus 로고    scopus 로고
    • Niemann - Pick type C disease: Accelerated neurofibrillary tangle formation and amyloid β deposition associated with apolipoprotein e ε4 homozygosity
    • Y. Saito, K. Suzuki, E. Nanba, T. Yamamoto, K. Ohno, and S. Murayama Niemann - Pick type C disease: accelerated neurofibrillary tangle formation and amyloid β deposition associated with apolipoprotein E ε4 homozygosity Ann. Neurol. 52 2002 351 355
    • (2002) Ann. Neurol. , vol.52 , pp. 351-355
    • Saito, Y.1    Suzuki, K.2    Nanba, E.3    Yamamoto, T.4    Ohno, K.5    Murayama, S.6
  • 41
    • 18344417178 scopus 로고    scopus 로고
    • Lewy bodies contain altered α synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes
    • C.F. Lippa, H. Fujiwara, and D.M. Mann Lewy bodies contain altered α synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes Am. J. Pathol. 153 1998 1365 1370
    • (1998) Am. J. Pathol. , vol.153 , pp. 1365-1370
    • Lippa, C.F.1    Fujiwara, H.2    Mann, D.M.3
  • 42
    • 0033919992 scopus 로고    scopus 로고
    • Lewy bodies in Alzheimer's disease: A neuropathological review of 145 cases using α-synuclein immunohistochemistry
    • R.L. Hamilton Lewy bodies in Alzheimer's disease: a neuropathological review of 145 cases using α-synuclein immunohistochemistry Brain Pathol. 10 2000 378 384
    • (2000) Brain Pathol. , vol.10 , pp. 378-384
    • Hamilton, R.L.1
  • 43
    • 0038113081 scopus 로고    scopus 로고
    • Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease
    • Y. Trembath, C. Rosenberg, and J.F. Ervin Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease Acta Neuropathol. (Berl.) 105 2003 484 488
    • (2003) Acta Neuropathol. (Berl.) , vol.105 , pp. 484-488
    • Trembath, Y.1    Rosenberg, C.2    Ervin, J.F.3
  • 44
    • 0034253913 scopus 로고    scopus 로고
    • Widespread expression of α-synuclein and tau immunoreactivity in Hallervordenâ€"Spatz syndrome with protracted clinical course
    • Y. Saito, M. Kawai, and K. Inoue Widespread expression of α-synuclein and tau immunoreactivity in Hallervorden†"Spatz syndrome with protracted clinical course J. Neurol. Sci. 177 2000 48 59
    • (2000) J. Neurol. Sci. , vol.177 , pp. 48-59
    • Saito, Y.1    Kawai, M.2    Inoue, K.3
  • 45
    • 1842615071 scopus 로고    scopus 로고
    • S. Murayama. Aberrant phosphorylation of α-synuclein in human Niemannâ€"Pick type C1 disease
    • Y. Sato, K. Suzuki, and C.M. Hulette S. Murayama. Aberrant phosphorylation of α-synuclein in human Niemannâ€" Pick type C1 disease J. Neuropathol. Exp. Neurol. 63 2004 323 328
    • (2004) J. Neuropathol. Exp. Neurol. , vol.63 , pp. 323-328
    • Sato, Y.1    Suzuki, K.2    Hulette, C.M.3
  • 47
    • 0036968946 scopus 로고    scopus 로고
    • Niemannâ€"Pick disease type C yields possible clue for why cerebellar neurons do not form neurofibrillary tangles
    • B. Bu, H. Klunemann, K. Suzuki, J. Li, T. Bird, L.-W. Jin, and I. Vincent Niemannâ€"Pick disease type C yields possible clue for why cerebellar neurons do not form neurofibrillary tangles Neurobiol. Dis. 11 2002 285 297
    • (2002) Neurobiol. Dis. , vol.11 , pp. 285-297
    • Bu, B.1    Klunemann, H.2    Suzuki, K.3    Li, J.4    Bird, T.5    Jin, L.-W.6    Vincent, I.7
  • 48
    • 0026529968 scopus 로고
    • Fragmentation of the Golgi apparatus of motor neurons in amyotrophic lateral sclerosis
    • N.K. Gonatas, A. Stieber, Z. Mourelatos, Y. Chen, and J.O. Gonatas Fragmentation of the Golgi apparatus of motor neurons in amyotrophic lateral sclerosis Am. J. Pathol. 140 1992 731 737
    • (1992) Am. J. Pathol. , vol.140 , pp. 731-737
    • Gonatas, N.K.1    Stieber, A.2    Mourelatos, Z.3    Chen, Y.4    Gonatas, J.O.5
  • 49
    • 0027300820 scopus 로고
    • The Golgi apparatus of motor neurons in amyotrophic lateral sclerosis
    • Z. Mourelatos, A. Yachnis, L. Rorke, J. Mikol, and N.K. Gonatas The Golgi apparatus of motor neurons in amyotrophic lateral sclerosis Ann. Neurol. 33 1993 608 615
    • (1993) Ann. Neurol. , vol.33 , pp. 608-615
    • Mourelatos, Z.1    Yachnis, A.2    Rorke, L.3    Mikol, J.4    Gonatas, N.K.5
  • 50
    • 0001784539 scopus 로고    scopus 로고
    • The Golgi apparatus in disease
    • E.G. Berger J. Roth Birkhouser Verlag Basel/Switzerland
    • N.K. Gonatas The Golgi apparatus in disease E.G. Berger J. Roth The Golgi apparatus 1997 Birkhouser Verlag Basel/Switzerland 247 273
    • (1997) The Golgi Apparatus , pp. 247-273
    • Gonatas, N.K.1
  • 51
    • 0030043292 scopus 로고    scopus 로고
    • In Alzheimer's disease the Golgi apparatus of a population of neurons without neurofibrillary tangles is fragmented and atrophic
    • A. Stieber, Z. Mourelatos, and N.K. Gonatas In Alzheimer's disease the Golgi apparatus of a population of neurons without neurofibrillary tangles is fragmented and atrophic Am. J. Pathol. 148 1996 415 426
    • (1996) Am. J. Pathol. , vol.148 , pp. 415-426
    • Stieber, A.1    Mourelatos, Z.2    Gonatas, N.K.3
  • 52
    • 0029890685 scopus 로고    scopus 로고
    • The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu, Zn superoxide dismutase becomes fragmented in early, preclinical stages of the disease
    • Z. Mourelatos, N.K. Gonatas, A. Stieber, M.E. Gurney, and M.C. Dal Canto The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu, Zn superoxide dismutase becomes fragmented in early, preclinical stages of the disease Proc. Natl. Acad. Sci. U. S. A. 93 1996 5472 5477
    • (1996) Proc. Natl. Acad. Sci. U. S. A. , vol.93 , pp. 5472-5477
    • Mourelatos, Z.1    Gonatas, N.K.2    Stieber, A.3    Gurney, M.E.4    Dal Canto, M.C.5
  • 53
    • 0031910288 scopus 로고    scopus 로고
    • Scattered Golgi elements during microtubule disruption are initially enriched in trans-Golgi proteins
    • W. Yang, and B. Storrie Scattered Golgi elements during microtubule disruption are initially enriched in trans-Golgi proteins Mol. Biol. Cell 9 1998 191 207
    • (1998) Mol. Biol. Cell , vol.9 , pp. 191-207
    • Yang, W.1    Storrie, B.2
  • 54
    • 0034678369 scopus 로고    scopus 로고
    • A specific activation of the mitogen-activated protein kinase kinase 1 (MEK 1) is required for Golgi fragmentation during mitosis
    • A. Colanzi, T.J. Deerinck, M.H. Ellisman, and V. Malhotra A specific activation of the mitogen-activated protein kinase kinase 1 (MEK 1) is required for Golgi fragmentation during mitosis J. Cell Biol. 149 2000 331 339
    • (2000) J. Cell Biol. , vol.149 , pp. 331-339
    • Colanzi, A.1    Deerinck, T.J.2    Ellisman, M.H.3    Malhotra, V.4
  • 55
    • 0034678366 scopus 로고    scopus 로고
    • W(h)ither the Golgi during mitosis?
    • W.J. Nelson W(h)ither the Golgi during mitosis? J. Cell Biol. 149 2000 243 248
    • (2000) J. Cell Biol. , vol.149 , pp. 243-248
    • Nelson, W.J.1
  • 58
    • 0031973893 scopus 로고    scopus 로고
    • Cellular pathology of lysosomal storage disorders
    • S.U. Walkley Cellular pathology of lysosomal storage disorders Brain Pathol. 8 1998 175 193
    • (1998) Brain Pathol. , vol.8 , pp. 175-193
    • Walkley, S.U.1
  • 59
    • 0022543573 scopus 로고
    • Ferric ion-ferrocyanide staining in ganglioside storage disease establishes that meganeurites are of axon hillock origin and distinct from axonal spheroids
    • S.U. Walkley, and A.P. Pierok Ferric ion-ferrocyanide staining in ganglioside storage disease establishes that meganeurites are of axon hillock origin and distinct from axonal spheroids Brain Res. 382 1986 379 386
    • (1986) Brain Res. , vol.382 , pp. 379-386
    • Walkley, S.U.1    Pierok, A.P.2
  • 60
    • 84989737734 scopus 로고
    • Alterations in synaptic connectivity in cerebral cortex in neuronal storage diseases
    • S.U. Walkley, and S. Wurzelmann Alterations in synaptic connectivity in cerebral cortex in neuronal storage diseases Ment. Retard. Dev. Disabil. Res. Rev. 1 1995 183 192
    • (1995) Ment. Retard. Dev. Disabil. Res. Rev. , vol.1 , pp. 183-192
    • Walkley, S.U.1    Wurzelmann, S.2
  • 61
    • 0028256183 scopus 로고
    • Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside
    • D.A. Siegel, and S.U. Walkley Growth of ectopic dendrites on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside J. Neurochem. 62 1994 1852 1862
    • (1994) J. Neurochem. , vol.62 , pp. 1852-1862
    • Siegel, D.A.1    Walkley, S.U.2
  • 62
    • 0033797738 scopus 로고    scopus 로고
    • Gangliosides as modulators of dendritogenesis in storage disease-affected and normal pyramidal neurons
    • S.U. Walkley, M. Zervas, and S. Wiseman Gangliosides as modulators of dendritogenesis in storage disease-affected and normal pyramidal neurons Cereb. Cortex 10 2000 1028 1037
    • (2000) Cereb. Cortex , vol.10 , pp. 1028-1037
    • Walkley, S.U.1    Zervas, M.2    Wiseman, S.3
  • 63
    • 0038777085 scopus 로고    scopus 로고
    • Neurobiology and cellular pathogenesis of glycolipid storage diseases
    • S.U. Walkley Neurobiology and cellular pathogenesis of glycolipid storage diseases Trans. Royal Soc. B 358 2003 893 904
    • (2003) Trans. Royal Soc. B , vol.358 , pp. 893-904
    • Walkley, S.U.1
  • 64
    • 2942672495 scopus 로고    scopus 로고
    • Secondary increases in ganglioside expression in lysosomal disorders
    • S.U. Walkley Secondary increases in ganglioside expression in lysosomal disorders Seminars in Cell and Developmental Biology 15 2004 433 444
    • (2004) Seminars in Cell and Developmental Biology , vol.15 , pp. 433-444
    • Walkley, S.U.1
  • 65
    • 0025769357 scopus 로고
    • Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement
    • S.U. Walkley, H.J. Baker, M.C. Rattazzi, M.E. Haskins, and J.-Y. Wu Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement J. Neurol. Sci. 104 1991 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
  • 66
    • 0026779475 scopus 로고
    • Axonal and dendritic endocytic pathways in cultured neurons
    • R.G. Parton, K. Simons, and C.G. Dotti Axonal and dendritic endocytic pathways in cultured neurons J. Cell Biol. 119 1992 123 137
    • (1992) J. Cell Biol. , vol.119 , pp. 123-137
    • Parton, R.G.1    Simons, K.2    Dotti, C.G.3
  • 67
    • 0025069861 scopus 로고
    • Initiation and growth of ectopic neurites and meganeurites during postnatal brain development in ganglioside storage disease
    • S.U. Walkley, H.J. Baker, and M.C. Rattazi Initiation and growth of ectopic neurites and meganeurites during postnatal brain development in ganglioside storage disease Dev. Brain Res. 51 1990 167 178
    • (1990) Dev. Brain Res. , vol.51 , pp. 167-178
    • Walkley, S.U.1    Baker, H.J.2    Rattazi, M.C.3
  • 68
    • 0023198503 scopus 로고
    • Ectopic axon hillock-associated neurite growth is maintained in metabolically-reversed swainsonine-induced neuronal storage disease
    • S.U. Walkley, S. Wurzelmann, and D.A. Siegel Ectopic axon hillock-associated neurite growth is maintained in metabolically-reversed swainsonine-induced neuronal storage disease Brain Res. 410 1987 89 96
    • (1987) Brain Res. , vol.410 , pp. 89-96
    • Walkley, S.U.1    Wurzelmann, S.2    Siegel, D.A.3
  • 70
    • 0027978693 scopus 로고
    • A possible same genetic defect in two Niemannâ€"Pick disease model mice
    • T. Yamamoto, K. Iwasawa, T. Tokoro, Y. Eto, and K. Maekawa A possible same genetic defect in two Niemannâ€"Pick disease model mice No To Hattatsu 26 1994 318 322 (article in Japanese)
    • (1994) No to Hattatsu , vol.26 , pp. 318-322
    • Yamamoto, T.1    Iwasawa, K.2    Tokoro, T.3    Eto, Y.4    Maekawa, K.5
  • 72
  • 74
    • 84862436817 scopus 로고    scopus 로고
    • Glycosphingolipid-cholesterol abnormalities in NPC2-deficient neurons appears equivalent to those occurring in neurons lacking NPC1, suggesting NPC1â€"NPC2 molecular cooperation
    • 537.15
    • J. Litrenta, F. Adeshuko, S. Zhou, G. Stephney, J. Wiseman, K. Dobrenis, D. Sleat, P. Lobel, and S.U. Walkley Glycosphingolipid-cholesterol abnormalities in NPC2-deficient neurons appears equivalent to those occurring in neurons lacking NPC1, suggesting NPC1â€"NPC2 molecular cooperation Abstr.-Soc. Neurosci. 537.15 2003
    • (2003) Abstr.-Soc. Neurosci.
    • Litrenta, J.1    Adeshuko, F.2    Zhou, S.3    Stephney, G.4    Wiseman, J.5    Dobrenis, K.6    Sleat, D.7    Lobel, P.8    Walkley, S.U.9
  • 75
    • 0023940276 scopus 로고
    • Cerebellar involvement in mouse sphingomyelinosis: A new model of Niemannâ€"Pick disease
    • J. Tanaka, H. Nakamura, and S. Miyawaki Cerebellar involvement in mouse sphingomyelinosis: a new model of Niemannâ€"Pick disease J. Neuropathol. Exp. Neurol. 47 1988 291 300
    • (1988) J. Neuropathol. Exp. Neurol. , vol.47 , pp. 291-300
    • Tanaka, J.1    Nakamura, H.2    Miyawaki, S.3
  • 76
  • 77
    • 0037074932 scopus 로고    scopus 로고
    • Degeneration of neurons and glia in the Niemannâ€"Pick C mouse is unrelated to the low-density lipoprotein receptor
    • D.C. German, C.L. Liang, T. Song, U. Yazudani, C. Xie, and J.M. Dietschy Degeneration of neurons and glia in the Niemannâ€"Pick C mouse is unrelated to the low-density lipoprotein receptor Neuroscience 109 2002 437 450
    • (2002) Neuroscience , vol.109 , pp. 437-450
    • German, D.C.1    Liang, C.L.2    Song, T.3    Yazudani, U.4    Xie, C.5    Dietschy, J.M.6
  • 78
    • 0019948159 scopus 로고
    • Lysosomal lipid storage disorder in NCTR-BALB/c mice: II. Morphologic and cytochemical studies
    • H. Shio, S. Fowler, C. Bhuvaneswaran, and M.D. Morris Lysosomal lipid storage disorder in NCTR-BALB/c mice: II. Morphologic and cytochemical studies Am. J. Pathol. 108 1982 150 159
    • (1982) Am. J. Pathol. , vol.108 , pp. 150-159
    • Shio, H.1    Fowler, S.2    Bhuvaneswaran, C.3    Morris, M.D.4
  • 79
    • 0036896284 scopus 로고    scopus 로고
    • Cholesterol accumulates in cell bodies but it decreased in distal axons of Niemannâ€"Pick C1 deficient neurons
    • B. Karten, D.E. Vance, R.B. Campenot, and J.E. Vance Cholesterol accumulates in cell bodies but it decreased in distal axons of Niemannâ€"Pick C1 deficient neurons J. Neurochem. 83 2002 1154 1163
    • (2002) J. Neurochem. , vol.83 , pp. 1154-1163
    • Karten, B.1    Vance, D.E.2    Campenot, R.B.3    Vance, J.E.4
  • 80
    • 0034733750 scopus 로고    scopus 로고
    • Embryonic striatal neurons from Niemannâ€"Pick type C mice exhibit defects in cholesterol metabolism and neurotrophin responsiveness
    • L.P. Henderson, L. Lin, A. Prasad, C.A. Paul, T.Y. Chang, and R.A. Maue Embryonic striatal neurons from Niemannâ€"Pick type C mice exhibit defects in cholesterol metabolism and neurotrophin responsiveness J. Biol. Chem. 275 2000 20179 20187
    • (2000) J. Biol. Chem. , vol.275 , pp. 20179-20187
    • Henderson, L.P.1    Lin, L.2    Prasad, A.3    Paul, C.A.4    Chang, T.Y.5    Maue, R.A.6
  • 81
    • 0037986815 scopus 로고    scopus 로고
    • Spatial and temporal distribution of intracellular free cholesterol in brains of Niemannâ€"Pick type C mouse model showing hyperphosphorylated tau protein. Implications for Alzheimer's disease
    • S. Treiber-Held, R. Dist, V. Meske, F. Albert, and T.G. Ohm Spatial and temporal distribution of intracellular free cholesterol in brains of Niemannâ€"Pick type C mouse model showing hyperphosphorylated tau protein. Implications for Alzheimer's disease J. Pathol. 200 2003 95 103
    • (2003) J. Pathol. , vol.200 , pp. 95-103
    • Treiber-Held, S.1    Dist, R.2    Meske, V.3    Albert, F.4    Ohm, T.G.5
  • 82
    • 1542513994 scopus 로고    scopus 로고
    • A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemannâ€"Pick type C1 mouse brain
    • P.C. Reid, N. Sakashita, S. Sugii, Y. Ohno-Iwashita, Y. Shimada, W.I. Hickey, and T.Y. Chang A novel cholesterol stain reveals early neuronal cholesterol accumulation in the Niemannâ€"Pick type C1 mouse brain J. Lipid Res. 45 2004 582 591
    • (2004) J. Lipid Res. , vol.45 , pp. 582-591
    • Reid, P.C.1    Sakashita, N.2    Sugii, S.3    Ohno-Iwashita, Y.4    Shimada, Y.5    Hickey, W.I.6    Chang, T.Y.7
  • 83
    • 0034304851 scopus 로고    scopus 로고
    • Lipid rafts and signal transduction
    • K. Simons, and D. Toomre Lipid rafts and signal transduction Nat. Rev. 1 2000 31 41
    • (2000) Nat. Rev. , vol.1 , pp. 31-41
    • Simons, K.1    Toomre, D.2
  • 84
  • 85
    • 0034329025 scopus 로고    scopus 로고
    • Membrane traffic in sphingolipid storage diseases
    • R.E. Pagano, V. Puri, M. Dominguez, and D.L. Marks Membrane traffic in sphingolipid storage diseases Traffic 1 2000 807 815
    • (2000) Traffic , vol.1 , pp. 807-815
    • Pagano, R.E.1    Puri, V.2    Dominguez, M.3    Marks, D.L.4
  • 86
    • 0036703779 scopus 로고    scopus 로고
    • Deregulation of cdk5, hyperphosphorylation, and cytoskeletal pathology in Niemannâ€"Pick type C mutant model
    • B. Bu, J. Li, P. Davies, and I. Vincent Deregulation of cdk5, hyperphosphorylation, and cytoskeletal pathology in Niemannâ€" Pick type C mutant model J. Neurosci. 22 2002 6515 6525
    • (2002) J. Neurosci. , vol.22 , pp. 6515-6525
    • Bu, B.1    Li, J.2    Davies, P.3    Vincent, I.4
  • 87
    • 0035142852 scopus 로고    scopus 로고
    • Cholesterol-dependent modulation of tau phosphorylation in cultured neurons
    • Q-W. Fan, W. Yu, T. Senda, K. Yanagisawa, and M. Michikawa Cholesterol-dependent modulation of tau phosphorylation in cultured neurons J. Neurochem. 76 2001 391 400
    • (2001) J. Neurochem. , vol.76 , pp. 391-400
    • Fan, Q.-W.1    Yu, W.2    Senda, T.3    Yanagisawa, K.4    Michikawa, M.5
  • 88
    • 0019468510 scopus 로고
    • Evidence for a "dying Back" gliopathy in demyelinating disease
    • S.K. Ludwin, and E.S. Johnson Evidence for a "Dying Back" gliopathy in demyelinating disease Ann. Neurol. 9 1981 301 305
    • (1981) Ann. Neurol. , vol.9 , pp. 301-305
    • Ludwin, S.K.1    Johnson, E.S.2
  • 89
    • 0027153235 scopus 로고
    • Oligodendrocyte injury is an early event in lesions of multiple sclerosis
    • M. Rodriguez, B.W. Scheithauer, G. Forbes, and P.J. Kelly Oligodendrocyte injury is an early event in lesions of multiple sclerosis Mayo Clin. Proc. 68 1993 627 636
    • (1993) Mayo Clin. Proc. , vol.68 , pp. 627-636
    • Rodriguez, M.1    Scheithauer, B.W.2    Forbes, G.3    Kelly, P.J.4
  • 90
    • 0035821438 scopus 로고    scopus 로고
    • Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemannâ€"Pick C disease
    • D.C. German, E.M. Quintero, C.L. Liang, B. Ng, S. Punia, C. Xie, and J.M. Dietschy Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemannâ€"Pick C disease J. Comp. Neurol. 7 2001 415 425
    • (2001) J. Comp. Neurol. , vol.7 , pp. 415-425
    • German, D.C.1    Quintero, E.M.2    Liang, C.L.3    Ng, B.4    Punia, S.5    Xie, C.6    Dietschy, J.M.7
  • 91
    • 0035971218 scopus 로고    scopus 로고
    • Site-specific phosphorylation of tau accompanied by activation of mitogen-activated protein kinase (MAPK) in brains of Niemannâ€" Pick type C mice
    • N. Sawamura, J.-S. Gong, W.S. Garver, R.A. Heidenreich, H. Ninomiya, K. Ohno, K. Yanagisawa, and M. Michikawa Site-specific phosphorylation of tau accompanied by activation of mitogen-activated protein kinase (MAPK) in brains of Niemannâ€"Pick type C mice J. Biol. Chem. 276 2002 10314 10319
    • (2002) J. Biol. Chem. , vol.276 , pp. 10314-10319
    • Sawamura, N.1    Gong, J.-S.2    Garver, W.S.3    Heidenreich, R.A.4    Ninomiya, H.5    Ohno, K.6    Yanagisawa, K.7    Michikawa, M.8
  • 92
    • 0034897464 scopus 로고    scopus 로고
    • Progressive neuronal loss in the ventral posterior lateral and medial nuclei of thalamus in Niemannâ€"Pick disease type C mouse brain
    • A. Yamada, M. Ukita, Y. Shinoda, M. Taniguchi, K. Higaki, H. Ninomiya, and K. Ohno Progressive neuronal loss in the ventral posterior lateral and medial nuclei of thalamus in Niemannâ€"Pick disease type C mouse brain Brain Dev. 5 2001 288 297
    • (2001) Brain Dev. , vol.5 , pp. 288-297
    • Yamada, A.1    Ukita, M.2    Shinoda, Y.3    Taniguchi, M.4    Higaki, K.5    Ninomiya, H.6    Ohno, K.7
  • 94
    • 0033959686 scopus 로고    scopus 로고
    • Pharmacological and genetic modification of somatic cholesterol does not substantially alter the course of CNS disease in Niemannâ€"Pick C mice
    • R.P. Erickson, W.S. Garver, F. Camargo, G.S. Hossain, and R.A. Heidenreich Pharmacological and genetic modification of somatic cholesterol does not substantially alter the course of CNS disease in Niemannâ€" Pick C mice J. Inherit. Metab. Dis. 23 2000 54 62
    • (2000) J. Inherit. Metab. Dis. , vol.23 , pp. 54-62
    • Erickson, R.P.1    Garver, W.S.2    Camargo, F.3    Hossain, G.S.4    Heidenreich, R.A.5
  • 95
    • 0035928841 scopus 로고    scopus 로고
    • Critical role for glycosphingolipids in Niemannâ€"Pick disease type C
    • M. Zervas, K.L. Somers, M.A. Thrall, and S.U. Walkley Critical role for glycosphingolipids in Niemannâ€"Pick disease type C Curr. Biol. 11 2001 1283 1287
    • (2001) Curr. Biol. , vol.11 , pp. 1283-1287
    • Zervas, M.1    Somers, K.L.2    Thrall, M.A.3    Walkley, S.U.4
  • 97
    • 0034534808 scopus 로고    scopus 로고
    • Cholesterol is sequestered in the brains of mice with Niemannâ€"Pick type C disease but turnover is increased
    • C. Xie, D.K. Burns, S.D. Turley, and J.M. Dietschy Cholesterol is sequestered in the brains of mice with Niemannâ€"Pick type C disease but turnover is increased J. Neuropathol. Exp. Neurol. 59 2000 1106 1117
    • (2000) J. Neuropathol. Exp. Neurol. , vol.59 , pp. 1106-1117
    • Xie, C.1    Burns, D.K.2    Turley, S.D.3    Dietschy, J.M.4
  • 98
    • 0037097247 scopus 로고    scopus 로고
    • Studies on neuronal death in the mouse model of Niemann†"Pick C disease
    • R.P. Erickson, and O. Bernard Studies on neuronal death in the mouse model of Niemannâ€"Pick C disease J. Neurosci. Res. 68 2002 738 744
    • (2002) J. Neurosci. Res. , vol.68 , pp. 738-744
    • Erickson, R.P.1    Bernard, O.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.