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Volumn 38, Issue 6, 2010, Pages 1448-1452

The neuronal ceroid lipofuscinoses: The same, but different?

Author keywords

Batten disease; Lysosomal dysfunction; Lysosomal storage disorder (LSD) neuroimmune response; Neuronal ceroid lipofuscinosis (NCL); Selective neuron vulnerability

Indexed keywords

SNARE PROTEIN;

EID: 78649747041     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST0381448     Document Type: Conference Paper
Times cited : (31)

References (43)
  • 1
    • 10644282870 scopus 로고    scopus 로고
    • Lysosomal defects and storage
    • (Platt, F.M. and Walkley, S.U., eds), Oxford University Press, Oxford
    • Platt, F.M. and Walkley, S.U. (2004) Lysosomal defects and storage. In Lysosomal Disorders of the Brain (Platt, F.M. and Walkley, S.U., eds), pp.32-49, Oxford University Press, Oxford
    • (2004) Lysosomal Disorders of the Brain , pp. 32-49
    • Platt, F.M.1    Walkley, S.U.2
  • 2
    • 14144255733 scopus 로고    scopus 로고
    • Lysosomal storage disorders
    • Vellodi, A. (2005) Lysosomal storage disorders. Br. J. Haematol. 128, 413-431
    • (2005) Br. J. Haematol. , vol.128 , pp. 413-431
    • Vellodi, A.1
  • 3
    • 62949195147 scopus 로고    scopus 로고
    • Neuronal ceroid lipofuscinoses
    • Jalanko, A. and Braulke, T. (2009) Neuronal ceroid lipofuscinoses. Biochim. Biophys. Acta 1793, 697-709
    • (2009) Biochim. Biophys. Acta , vol.1793 , pp. 697-709
    • Jalanko, A.1    Braulke, T.2
  • 4
    • 78649741254 scopus 로고    scopus 로고
    • Neuronal ceroid lipofuscinosis
    • (Kompoliti, K. and Verhagen Metman, L., eds), Academic Press, Oxford
    • Cooper, J.D. (2010) Neuronal ceroid lipofuscinosis. In Encyclopedia of Movement Disorders, vol. 2 (Kompoliti, K. and Verhagen Metman, L., eds), pp. 291-295, Academic Press, Oxford
    • (2010) Encyclopedia of Movement Disorders , vol.2 , pp. 291-295
    • Cooper, J.D.1
  • 5
    • 1642499253 scopus 로고    scopus 로고
    • Variations in neurodegenerative disease across the UK: Findings from the national study of Progressive Intellectual and Neurological Deterioration (PIND)
    • Devereux, G., Stellitano, L., Verity, C.M., Nicoll, A., Will, R.G. and Rogers, P. (2004) Variations in neurodegenerative disease across the UK: findings from the national study of Progressive Intellectual and Neurological Deterioration (PIND). Arch. Dis. Child. 89, 8-12
    • (2004) Arch. Dis. Child. , vol.89 , pp. 8-12
    • Devereux, G.1    Stellitano, L.2    Verity, C.M.3    Nicoll, A.4    Will, R.G.5    Rogers, P.6
  • 6
    • 77953732520 scopus 로고    scopus 로고
    • The epidemiology of progressive intellectual and neurological deterioration in childhood
    • Verity, C., Winstone, A.M., Stellitano, L., Will, R. and Nicoll, A. (2009) The epidemiology of progressive intellectual and neurological deterioration in childhood. Arch. Dis. Child. 95, 361-364
    • (2009) Arch. Dis. Child. , vol.95 , pp. 361-364
    • Verity, C.1    Winstone, A.M.2    Stellitano, L.3    Will, R.4    Nicoll, A.5
  • 7
    • 0014592170 scopus 로고
    • Neuronal ceroid-lipofuscinosis (Batten's disease): Relationship to amaurotic family idiocy?
    • Zeman, W. and Dyken, P. (1969) Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? Pediatrics 44, 570-583
    • (1969) Pediatrics , vol.44 , pp. 570-583
    • Zeman, W.1    Dyken, P.2
  • 8
    • 25844517550 scopus 로고    scopus 로고
    • Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
    • Mole, S.E., Williams, R.E. and Goebel, H.H. (2005) Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6, 107-126
    • (2005) Neurogenetics , vol.6 , pp. 107-126
    • Mole, S.E.1    Williams, R.E.2    Goebel, H.H.3
  • 9
    • 33750984767 scopus 로고    scopus 로고
    • Molecular genetics of the NCLs: Status and perspectives
    • Siintola, E., Lehesjoki, A.E. and Mole, S.E. (2006) Molecular genetics of the NCLs: status and perspectives. Biochim. Biophys. Acta 1762, 857-864
    • (2006) Biochim. Biophys. Acta , vol.1762 , pp. 857-864
    • Siintola, E.1    Lehesjoki, A.E.2    Mole, S.E.3
  • 10
    • 79951552729 scopus 로고    scopus 로고
    • Interactions of the proteins of neuronal ceroid lipofuscinosis: Clues to function
    • doi:10.1007/s00018-010-0468-6
    • Getty, A.L. and Pearce, D.A. (2010) Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell. Mol. Life Sci., doi:10.1007/s00018-010-0468-6
    • (2010) Cell. Mol. Life Sci.
    • Getty, A.L.1    Pearce, D.A.2
  • 12
    • 33750985356 scopus 로고    scopus 로고
    • Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins
    • Kyttälä, A., Lahtinen, U., Braulke, T. and Hofmann, S.L. (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
  • 13
    • 0037399422 scopus 로고    scopus 로고
    • Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis
    • Cooper, J.D. (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
  • 14
    • 0037226939 scopus 로고    scopus 로고
    • The neuronal ceroid-lipofuscinoses
    • Haltia, M. (2003) The neuronal ceroid-lipofuscinoses. J. Neuropathol. Exp. Neurol. 62, 1-13
    • (2003) J. Neuropathol. Exp. Neurol. , vol.62 , pp. 1-13
    • Haltia, M.1
  • 15
    • 8744251345 scopus 로고    scopus 로고
    • Specific patterns of storage deposition, neurodegeneration, and glial activation in the hippocampus of patients with neuronal ceroid-lipofuscinoses
    • Tyynelä, J., Cooper, J.D., Khan, M.N., Shemilt, S.J.A. and Haltia, M. (2004) Specific patterns of storage deposition, neurodegeneration, and glial activation in the hippocampus of patients with neuronal ceroid-lipofuscinoses. Brain Pathol. 14, 349-357
    • (2004) Brain Pathol. , vol.14 , pp. 349-357
    • Tyynelä, J.1    Cooper, J.D.2    Khan, M.N.3    Shemilt, S.J.A.4    Haltia, M.5
  • 17
    • 33750976371 scopus 로고    scopus 로고
    • Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis
    • Cooper, J.D., Russell, C.R. and Mitchison, H.M. (2006) Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta 1762, 873-889
    • (2006) Biochim. Biophys. Acta , vol.1762 , pp. 873-889
    • Cooper, J.D.1    Russell, C.R.2    Mitchison, H.M.3
  • 18
    • 33750180119 scopus 로고    scopus 로고
    • A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA
    • Tammen, I., Houweling, P.J., Frugier, T., Mitchell, N.L., Kay, G.W., Cavanagh, J.A., Cook, R.W., Raadsma, H.W. and Palmer, D.N. (2006) A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA. Biochim. Biophys. Acta 1762, 898-905
    • (2006) Biochim. Biophys. Acta , vol.1762 , pp. 898-905
    • Tammen, I.1    Houweling, P.J.2    Frugier, T.3    Mitchell, N.L.4    Kay, G.W.5    Cavanagh, J.A.6    Cook, R.W.7    Raadsma, H.W.8    Palmer, D.N.9
  • 20
    • 0033119124 scopus 로고    scopus 로고
    • Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: Evidence for partial response to insulin-like growth factor-1 treatment
    • Cooper, J.D., Messer, A., Feng, A.K., Chua-Couzens, J. and Mobley, W.C. (1999) Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment. J. Neurosci. 19, 2556-2567
    • (1999) J. Neurosci. , vol.19 , pp. 2556-2567
    • Cooper, J.D.1    Messer, A.2    Feng, A.K.3    Chua-Couzens, J.4    Mobley, W.C.5
  • 22
    • 71749101489 scopus 로고    scopus 로고
    • An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease
    • Chattopadhyay, S., Ito, M., Cooper, J.D., Brooks, A.I., Curran, T.M., Powers, J.M. and Pearce, D.A. (2002) An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Hum. Mol. Genet. 11, 1421-1431
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1421-1431
    • Chattopadhyay, S.1    Ito, M.2    Cooper, J.D.3    Brooks, A.I.4    Curran, T.M.5    Powers, J.M.6    Pearce, D.A.7
  • 23
    • 2942597781 scopus 로고    scopus 로고
    • Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 (PPT1) null mutant mouse model of infantile neuronal ceroid lipofuscinosis
    • Bible, E., Gupta, P., Hofmann, S.L. and Cooper, J.D. (2004) Regional and cellular neuropathology in the palmitoyl protein thioesterase-1 (PPT1) null mutant mouse model of infantile neuronal ceroid lipofuscinosis. Neurobiol. Dis. 16, 346-359
    • (2004) Neurobiol. Dis. , vol.16 , pp. 346-359
    • Bible, E.1    Gupta, P.2    Hofmann, S.L.3    Cooper, J.D.4
  • 26
    • 33646486569 scopus 로고    scopus 로고
    • Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons
    • Weimer, J.M., Custer, A.W., Benedict, J.W., Alexander, N.A., Kingsley, E., Federoff, H.J., Cooper, J.D. and Pearce, D.A. (2006) Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons. Neurobiol. Dis. 22, 284-293
    • (2006) Neurobiol. Dis. , vol.22 , pp. 284-293
    • Weimer, J.M.1    Custer, A.W.2    Benedict, J.W.3    Alexander, N.A.4    Kingsley, E.5    Federoff, H.J.6    Cooper, J.D.7    Pearce, D.A.8
  • 31
    • 64549084081 scopus 로고    scopus 로고
    • Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse
    • Macauley, S.L., Wozniak, D.F., Kielar, C., Tan, Y., Cooper, J.D. and Sands, M.S. (2009) Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse. Exp. Neurol. 217, 124-135
    • (2009) Exp. Neurol. , vol.217 , pp. 124-135
    • Macauley, S.L.1    Wozniak, D.F.2    Kielar, C.3    Tan, Y.4    Cooper, J.D.5    Sands, M.S.6
  • 35
    • 2942588715 scopus 로고    scopus 로고
    • Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis (INCL)
    • Griffey, M., Bible, E., Vogler, C., Levy, B., Gupta, P., Cooper, J.D. and Sands, M.S. (2004) Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis (INCL). Neurobiol. Dis. 16, 360-369
    • (2004) Neurobiol. Dis. , vol.16 , pp. 360-369
    • Griffey, M.1    Bible, E.2    Vogler, C.3    Levy, B.4    Gupta, P.5    Cooper, J.D.6    Sands, M.S.7
  • 36
    • 32944454332 scopus 로고    scopus 로고
    • CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis
    • Griffey, M.A., Wozniak, D., Wong, M., Bible, E., Johnson, K., Rothman, M.R., Wentz, A.E., Cooper, J.D. and Sands, M.S. (2006) CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis. Mol. Ther. 15, 538-547
    • (2006) Mol. Ther. , vol.15 , pp. 538-547
    • Griffey, M.A.1    Wozniak, D.2    Wong, M.3    Bible, E.4    Johnson, K.5    Rothman, M.R.6    Wentz, A.E.7    Cooper, J.D.8    Sands, M.S.9
  • 37
    • 41149092265 scopus 로고    scopus 로고
    • Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis
    • Chang, M., Cooper, J.D., Sleat, D.E., Cheng, S.H., Dodge, J.C., Passini, M.A., Lobel, P. and Davidson, B.L. (2008) Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol. Ther. 16, 649-656
    • (2008) Mol. Ther. , vol.16 , pp. 649-656
    • Chang, M.1    Cooper, J.D.2    Sleat, D.E.3    Cheng, S.H.4    Dodge, J.C.5    Passini, M.A.6    Lobel, P.7    Davidson, B.L.8
  • 39
    • 24044496235 scopus 로고    scopus 로고
    • Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)
    • Oswald, M.J., Palmer, D.N., Kay, G.W., Shemilt, S.J.A., Rezaie, P. and Cooper, J.D. (2005) Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6). Neurobiol. Dis. 20, 49-63
    • (2005) Neurobiol. Dis. , vol.20 , pp. 49-63
    • Oswald, M.J.1    Palmer, D.N.2    Kay, G.W.3    Shemilt, S.J.A.4    Rezaie, P.5    Cooper, J.D.6
  • 40
    • 51549114197 scopus 로고    scopus 로고
    • Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis
    • Oswald, M.J., Palmer, D.N., Kay, G.W., Barwell, K.J. and Cooper, J.D. (2008) Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis. Neurobiol. Dis. 32, 50-65
    • (2008) Neurobiol. Dis. , vol.32 , pp. 50-65
    • Oswald, M.J.1    Palmer, D.N.2    Kay, G.W.3    Barwell, K.J.4    Cooper, J.D.5
  • 41
    • 0021675999 scopus 로고
    • Inhibitors of lysosomal enzymes: Accumulation of lipofuscin-like dense bodies in the brain
    • Ivy, G.O., Schottler, F., Wenzel, J., Baudry, M. and Lynch, G. (1984) Inhibitors of lysosomal enzymes: accumulation of lipofuscin-like dense bodies in the brain. Science 226, 985-987
    • (1984) Science , vol.226 , pp. 985-987
    • Ivy, G.O.1    Schottler, F.2    Wenzel, J.3    Baudry, M.4    Lynch, G.5
  • 42
    • 51349089035 scopus 로고    scopus 로고
    • Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice
    • Kim, S.J., Zhang, Z., Sarkar, C., Tsai, P.C., Lee, Y.C., Dye, L. and Mukherjee, A.B. (2008) Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. J. Clin. Invest. 118, 3075-3086
    • (2008) J. Clin. Invest. , vol.118 , pp. 3075-3086
    • Kim, S.J.1    Zhang, Z.2    Sarkar, C.3    Tsai, P.C.4    Lee, Y.C.5    Dye, L.6    Mukherjee, A.B.7
  • 43
    • 33745018230 scopus 로고    scopus 로고
    • Prenatal activation of non-neuronal cells within the developing CNS of sheep with neuronal ceroid lipofuscinosis (CLN6)
    • Kay, G.W., Palmer, D.N., Rezaie, P. and Cooper, J.D. (2006) Prenatal activation of non-neuronal cells within the developing CNS of sheep with neuronal ceroid lipofuscinosis (CLN6). Brain Pathol. 16, 110-116
    • (2006) Brain Pathol. , vol.16 , pp. 110-116
    • Kay, G.W.1    Palmer, D.N.2    Rezaie, P.3    Cooper, J.D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.