메뉴 건너뛰기




Volumn 45, Issue , 2001, Pages 183-203

10 Animal models for the ceroid lipofuscinoses

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; CLN3 PROTEIN, HUMAN; MEMBRANE PROTEIN; PROTEIN;

EID: 0035222465     PISSN: 00652660     EISSN: None     Source Type: Book Series    
DOI: 10.1016/s0065-2660(01)45011-5     Document Type: Article
Times cited : (10)

References (88)
  • 3
    • 0032805892 scopus 로고    scopus 로고
    • Colitis in transgenic and knockout animals as models of human inflammatory bowel disease
    • Bahn A.K. Mizoguchi E. Smith R.N. Mizoguchi A. Colitis in transgenic and knockout animals as models of human inflammatory bowel disease Immunol. Rev. 169 1999 195 207
    • (1999) Immunol. Rev. , vol.169 , pp. 195-207
    • Bahn, A.K.1    Mizoguchi, E.2    Smith, R.N.3    Mizoguchi, A.4
  • 5
    • 0032720393 scopus 로고    scopus 로고
    • A murine model of hereditary hemorrhagic telangiectasia
    • Bourdeau A. Dumont D.J. Letarte M. A murine model of hereditary hemorrhagic telangiectasia J. Clin. Invest. 104 1999 1343 1351
    • (1999) J. Clin. Invest. , vol.104 , pp. 1343-1351
    • Bourdeau, A.1    Dumont, D.J.2    Letarte, M.3
  • 6
    • 0024251647 scopus 로고
    • Clinical classification of neuronal ceroid lipofuscinosis subtypes
    • Boustany R.N. Alroy J. Kolodny E.H. Clinical classification of neuronal ceroid lipofuscinosis subtypes Am. J. Med. Genet. Suppl. 5 1988 47 58
    • (1988) Am. J. Med. Genet. , Issue.Suppl. 5 , pp. 47-58
    • Boustany, R.N.1    Alroy, J.2    Kolodny, E.H.3
  • 7
    • 0027453099 scopus 로고
    • Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)
    • Bronson R.T. Lake B.D. Cook S. Taylor S. Davisson M.T. Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease) Ann. Neurol. 33 1993 381 385
    • (1993) Ann. Neurol. , vol.33 , pp. 381-385
    • Bronson, R.T.1    Lake, B.D.2    Cook, S.3    Taylor, S.4    Davisson, M.T.5
  • 9
    • 0031846129 scopus 로고    scopus 로고
    • Ovine ceroid lipofuscinosis: A large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6
    • Broom M.F. Zhou C.M. Broom J.E. Barwell K.J. Jolly R.D. Hill D.F. Ovine ceroid lipofuscinosis: A large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6 J. Med. Genet. 35 1998 717 721
    • (1998) J. Med. Genet. , vol.35 , pp. 717-721
    • Broom, M.F.1    Zhou, C.M.2    Broom, J.E.3    Barwell, K.J.4    Jolly, R.D.5    Hill, D.F.6
  • 10
    • 0028395411 scopus 로고
    • Targeted gene replacement
    • Capechi M.R. Targeted gene replacement Sci. Am. 270 1994 52 59
    • (1994) Sci. Am. , vol.270 , pp. 52-59
    • Capechi, M.R.1
  • 12
    • 0017727797 scopus 로고
    • An adult case of canine ceroid-lipofuscinosis
    • Cummings J.F. deLahunta A. An adult case of canine ceroid-lipofuscinosis Acta Neuropathol. 39 1977 43 51
    • (1977) Acta Neuropathol. , vol.39 , pp. 43-51
    • Cummings, J.F.1    deLahunta, A.2
  • 13
    • 0024193388 scopus 로고
    • Reconsideration of the classification of the neuronal ceroid-lipofuscinoses
    • Dyken P.R. Reconsideration of the classification of the neuronal ceroid-lipofuscinoses Am. J. Med. Genet. Suppl. 5 1988 69 84
    • (1988) Am. J. Med. Genet. , Issue.Suppl. 5 , pp. 69-84
    • Dyken, P.R.1
  • 14
    • 0029075391 scopus 로고
    • Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms
    • Dyken P. Wisniewski K. Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms Am. J. Med. Genet. 57 1995 150 154
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 150-154
    • Dyken, P.1    Wisniewski, K.2
  • 15
    • 0028857502 scopus 로고
    • Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease)
    • Ezaki J. Wolfe L.S. Higuti T. Ishidoh K. Kominami E. Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease) J. Neurochem. 64 1995 733 741
    • (1995) J. Neurochem. , vol.64 , pp. 733-741
    • Ezaki, J.1    Wolfe, L.S.2    Higuti, T.3    Ishidoh, K.4    Kominami, E.5
  • 16
    • 0029817316 scopus 로고    scopus 로고
    • Specific delay in degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis is derived from cellular proteolytic dysfunction rather than structural alteration of subunit c
    • Ezaki J. Wolfe L.S. Kominami E. Specific delay in degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis is derived from cellular proteolytic dysfunction rather than structural alteration of subunit c J. Neurochem. 67 1996 1677 1687
    • (1996) J. Neurochem. , vol.67 , pp. 1677-1687
    • Ezaki, J.1    Wolfe, L.S.2    Kominami, E.3
  • 17
    • 0025290956 scopus 로고
    • The sequence of the major protein stored in ovine ceroid-lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase
    • Fearnley I.M. Walker J.E. Martinus R.D. Jolly R.D. Kirkland K.B. Shaw G.J. Palmer D.N. The sequence of the major protein stored in ovine ceroid-lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase Biochem. J. 268 1990 751 758
    • (1990) Biochem. J. , vol.268 , pp. 751-758
    • Fearnley, I.M.1    Walker, J.E.2    Martinus, R.D.3    Jolly, R.D.4    Kirkland, K.B.5    Shaw, G.J.6    Palmer, D.N.7
  • 18
    • 0031983764 scopus 로고    scopus 로고
    • The neuronal ceroid-lipofuscinoses: Recent advances
    • Goebel H.H. Sharp J.D. The neuronal ceroid-lipofuscinoses: Recent advances Brain Pathol. 8 1998 151 162
    • (1998) Brain Pathol. , vol.8 , pp. 151-162
    • Goebel, H.H.1    Sharp, J.D.2
  • 19
    • 0024191797 scopus 로고
    • Morphological studies in canine (dalmation) neuronal ceroid-lipofuscinosis
    • Goebel H.H. Bilzer T. Dahme E. Malkush F. Morphological studies in canine (dalmation) neuronal ceroid-lipofuscinosis Am. J. Med. Genet. Suppl. 5 1988 127 140
    • (1988) Am. J. Med. Genet. , Issue.Suppl. 5 , pp. 127-140
    • Goebel, H.H.1    Bilzer, T.2    Dahme, E.3    Malkush, F.4
  • 21
    • 0025854327 scopus 로고
    • Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)
    • Hall N.A. Lake B.D. Dewji N.N. Patrick A.D. Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis) Biochem. J. 275 1991 269 272
    • (1991) Biochem. J. , vol.275 , pp. 269-272
    • Hall, N.A.1    Lake, B.D.2    Dewji, N.N.3    Patrick, A.D.4
  • 22
    • 85120129485 scopus 로고    scopus 로고
    • Intracellular localization of the Batten gene product, CLN3
    • Haskell R.E. Derken T.A. Davidson B.L. Intracellular localization of the Batten gene product, CLN3 Soc. Neurosci. 23 1997 860
    • (1997) Soc. Neurosci. , vol.23 , pp. 860
    • Haskell, R.E.1    Derken, T.A.2    Davidson, B.L.3
  • 23
    • 0029843717 scopus 로고    scopus 로고
    • Human palmitoyl protein thioesterase: Evidence for lysosomal targeting and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis
    • Hellsten E. Vesa J. Olkkonen V.M. Jalanko A. Peltonen L. Human palmitoyl protein thioesterase: Evidence for lysosomal targeting and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis EMBO J. 15 1996 5240 5245
    • (1996) EMBO J. , vol.15 , pp. 5240-5245
    • Hellsten, E.1    Vesa, J.2    Olkkonen, V.M.3    Jalanko, A.4    Peltonen, L.5
  • 24
    • 0029147298 scopus 로고
    • Isolation of a novel gene underlying Batten disease, CLN3
    • International Batten Disease Consortium Isolation of a novel gene underlying Batten disease, CLN3 Cell. 82 1995 949 957
    • (1995) Cell. , vol.82 , pp. 949-957
    • International Batten Disease Consortium1
  • 25
    • 0027302564 scopus 로고
    • An animal model for the infantile type of neuronal ceroid-lipofuscinosis
    • Jarplid B. Haltia M. An animal model for the infantile type of neuronal ceroid-lipofuscinosis J. Inher. Metab. Dis. 16 1993 274 277
    • (1993) J. Inher. Metab. Dis. , vol.16 , pp. 274-277
    • Jarplid, B.1    Haltia, M.2
  • 27
    • 0029013147 scopus 로고
    • Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): An overview
    • Jolly R.D. Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): An overview Am. J. Med. Genet. 57 1995 307 311
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 307-311
    • Jolly, R.D.1
  • 28
    • 0028932292 scopus 로고
    • The neuronal ceroid-lipofuscinoses (Batten disease): Comparative aspects
    • Jolly R.D. Palmer D.N. The neuronal ceroid-lipofuscinoses (Batten disease): Comparative aspects Neuropathol. Appl. Neurobiol. 21 1995 50 60
    • (1995) Neuropathol. Appl. Neurobiol. , vol.21 , pp. 50-60
    • Jolly, R.D.1    Palmer, D.N.2
  • 30
    • 0024225921 scopus 로고
    • Ovine ceroid-lipofuscinosis II: Pathologic changes interpreted in light of biochemical observations
    • Jolly R.D. Shimada A. Craig A.S. Kirkland K.B. Palmer D.N. Ovine ceroid-lipofuscinosis II: Pathologic changes interpreted in light of biochemical observations Am. J. Med. Genet. Suppl. 5 1988 159 170
    • (1988) Am. J. Med. Genet. , Issue.Suppl. 5 , pp. 159-170
    • Jolly, R.D.1    Shimada, A.2    Craig, A.S.3    Kirkland, K.B.4    Palmer, D.N.5
  • 32
    • 0026511676 scopus 로고
    • Sheep and other animals with ceroid-lipofuscinosis: Their relevance to Batten disease
    • Jolly R.D. Martinus R.D. Palmer D.N. Sheep and other animals with ceroid-lipofuscinosis: Their relevance to Batten disease Am. J. Med. Genet. 42 1992 609 614
    • (1992) Am. J. Med. Genet. , vol.42 , pp. 609-614
    • Jolly, R.D.1    Martinus, R.D.2    Palmer, D.N.3
  • 34
    • 0026035878 scopus 로고
    • Juvenile ceroid-lipofuscinosis: Evidence for methylated lysine in storage body protein
    • Katz M.L. Rodrigues M. Juvenile ceroid-lipofuscinosis: Evidence for methylated lysine in storage body protein Am. J. Pathol. 138 1991 323 332
    • (1991) Am. J. Pathol. , vol.138 , pp. 323-332
    • Katz, M.L.1    Rodrigues, M.2
  • 35
    • 0028360733 scopus 로고
    • Lysine methylation of mitochondrial ATP synthase subunit c stored in tissues of dogs with hereditary ceroid-lipofuscinosis
    • Katz M.L. Christianson J.S. Norbury N.E. Gao C. Siakotos A.N. Koppang N. Lysine methylation of mitochondrial ATP synthase subunit c stored in tissues of dogs with hereditary ceroid-lipofuscinosis J. Biol. Chem. 269 1994 9906 9911
    • (1994) J. Biol. Chem. , vol.269 , pp. 9906-9911
    • Katz, M.L.1    Christianson, J.S.2    Norbury, N.E.3    Gao, C.4    Siakotos, A.N.5    Koppang, N.6
  • 36
    • 0029093799 scopus 로고
    • Mitochondrial ATP synthase subunit c stored in hereditary ceroid-lipofuscinosis contains trimethyllysine
    • Katz M.L. Gao C. Tompkins J.A. Chin D.T. Bronson R.T. Mitochondrial ATP synthase subunit c stored in hereditary ceroid-lipofuscinosis contains trimethyllysine Biochem. J. 310 1995 887 892
    • (1995) Biochem. J. , vol.310 , pp. 887-892
    • Katz, M.L.1    Gao, C.2    Tompkins, J.A.3    Chin, D.T.4    Bronson, R.T.5
  • 38
    • 0030754261 scopus 로고    scopus 로고
    • Dietary carnitine supplements slow disease progression in a putative mouse model for hereditary ceroid-lipofuscinosis
    • Katz M.L. Rice L.M. Gao C. Dietary carnitine supplements slow disease progression in a putative mouse model for hereditary ceroid-lipofuscinosis J. Neurosci. Res. 50 1997 123 132
    • (1997) J. Neurosci. Res. , vol.50 , pp. 123-132
    • Katz, M.L.1    Rice, L.M.2    Gao, C.3
  • 39
    • 0031563076 scopus 로고    scopus 로고
    • Late-infantile ceroid-lipofuscinosis: Lysine methylation of mitochondrial subunit c from lysosomal storage bodies
    • Katz M.L. Siakotos A.N. Gao Q. Freiha B. Chin D.T. Late-infantile ceroid-lipofuscinosis: Lysine methylation of mitochondrial subunit c from lysosomal storage bodies Biochim. Biophys. Acta 1361 1997 66 74
    • (1997) Biochim. Biophys. Acta , vol.1361 , pp. 66-74
    • Katz, M.L.1    Siakotos, A.N.2    Gao, Q.3    Freiha, B.4    Chin, D.T.5
  • 40
    • 0032721635 scopus 로고    scopus 로고
    • Characterization and chromosomal mapping of a mouse homolog of the late-infantile ceroid-lipofuscoinosis gene CLN2
    • Katz M.L. Liu P. Grob-Nunn S. Shibuya H. Johnson G.S. Characterization and chromosomal mapping of a mouse homolog of the late-infantile ceroid-lipofuscoinosis gene CLN2 Mamm. Genome. 10 1999 1050 1053
    • (1999) Mamm. Genome. , vol.10 , pp. 1050-1053
    • Katz, M.L.1    Liu, P.2    Grob-Nunn, S.3    Shibuya, H.4    Johnson, G.S.5
  • 42
    • 0030201075 scopus 로고    scopus 로고
    • Efficient construction of a physical map by fiber-fish of the CLN5 region: Refined assignment and long-range contig covering the critical region on 13q22
    • Klockars T. Savukoski M. Isosomppi J. Laan M. Jarvela I. Petrukhin K. Palotie A. Peltonen L. Efficient construction of a physical map by fiber-fish of the CLN5 region: Refined assignment and long-range contig covering the critical region on 13q22 Genomics 35 1996 71 78
    • (1996) Genomics , vol.35 , pp. 71-78
    • Klockars, T.1    Savukoski, M.2    Isosomppi, J.3    Laan, M.4    Jarvela, I.5    Petrukhin, K.6    Palotie, A.7    Peltonen, L.8
  • 43
    • 0026526712 scopus 로고
    • Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease)
    • Kominami E. Ezaki J. Muno D. Ishido K. Ueno T. Wolfe L.S. Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease) J. Biochem. 111 1992 278 282
    • (1992) J. Biochem. , vol.111 , pp. 278-282
    • Kominami, E.1    Ezaki, J.2    Muno, D.3    Ishido, K.4    Ueno, T.5    Wolfe, L.S.6
  • 44
    • 0024250092 scopus 로고
    • The English setter with ceroid-lipofuscinosis: A suitable model for the juvenile type of ceroid-lipofuscinosis
    • Koppang N. The English setter with ceroid-lipofuscinosis: A suitable model for the juvenile type of ceroid-lipofuscinosis Am. J. Med. Genet. Suppl. 5 1988 117 126
    • (1988) Am. J. Med. Genet. , Issue.Suppl. 5 , pp. 117-126
    • Koppang, N.1
  • 45
    • 0026579592 scopus 로고
    • English setter model and juvenile ceroid-lipofuscinosis in man
    • Koppang N. English setter model and juvenile ceroid-lipofuscinosis in man J. Med. Genet. 42 1992 594 599
    • (1992) J. Med. Genet. , vol.42 , pp. 594-599
    • Koppang, N.1
  • 48
    • 0032103422 scopus 로고    scopus 로고
    • Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis
    • Liu C. Sleat D.E. Donnelly R.J. Lobel P. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis Genomics 50 1998 206 212
    • (1998) Genomics , vol.50 , pp. 206-212
    • Liu, C.1    Sleat, D.E.2    Donnelly, R.J.3    Lobel, P.4
  • 49
    • 0022367967 scopus 로고
    • Ceroid-lipofuscinosis (Batten's disease): Pathogenesis of blindness in the ovine model
    • Mayhew I.G. Jolly R.D. Pickett B.T. Slack P.M. Ceroid-lipofuscinosis (Batten's disease): Pathogenesis of blindness in the ovine model Neuropathol. Appl. Neurobiol. 11 1985 273 290
    • (1985) Neuropathol. Appl. Neurobiol. , vol.11 , pp. 273-290
    • Mayhew, I.G.1    Jolly, R.D.2    Pickett, B.T.3    Slack, P.M.4
  • 51
    • 1842300350 scopus 로고
    • Autosomal dominance in a late-onset motor neuron disease in the mouse
    • Messer A. Flaherty L. Autosomal dominance in a late-onset motor neuron disease in the mouse Ann. Neurol. 33 1986 381 385
    • (1986) Ann. Neurol. , vol.33 , pp. 381-385
    • Messer, A.1    Flaherty, L.2
  • 52
    • 0027279484 scopus 로고
    • Accumulating autofluorescent material as a marker for early changes in the spinal cord of the Mnd mouse
    • Messer A. Plummer J. Accumulating autofluorescent material as a marker for early changes in the spinal cord of the Mnd mouse Neuromusc. Disord. 3 1993 129 134
    • (1993) Neuromusc. Disord. , vol.3 , pp. 129-134
    • Messer, A.1    Plummer, J.2
  • 53
    • 0023212297 scopus 로고
    • Histopahtology of the late-onset motor neuron degeneration (Mnd) mutant in the mouse
    • Messer A. Strominger N.L. Mazurkiewicz J.E. Histopahtology of the late-onset motor neuron degeneration (Mnd) mutant in the mouse J. Neurogenet. 4 1987 201 213
    • (1987) J. Neurogenet. , vol.4 , pp. 201-213
    • Messer, A.1    Strominger, N.L.2    Mazurkiewicz, J.E.3
  • 54
    • 0027384717 scopus 로고
    • Retinal degeneration in motor neuron degeneration (mnd) mutant mice
    • Messer A. Plummer J. Wong V. LaVail M.M. Retinal degeneration in motor neuron degeneration (mnd) mutant mice Exp. Eye Res. 57 1993 637 641
    • (1993) Exp. Eye Res. , vol.57 , pp. 637-641
    • Messer, A.1    Plummer, J.2    Wong, V.3    LaVail, M.M.4
  • 56
    • 0033533048 scopus 로고    scopus 로고
    • Batten's disease: Eight genes and still counting?
    • Mole S.E. Batten's disease: Eight genes and still counting? Lancet 354 1999 443 445
    • (1999) Lancet , vol.354 , pp. 443-445
    • Mole, S.E.1
  • 57
    • 0023038776 scopus 로고
    • Ceroid lipofuscinosis in sheep. II. The major component of the lipopigment in liver, kidney, pancreas, and brain is low molecular weight protein
    • Palmer D.N. Barns G. Husbands D.R. Jolly R.D. Ceroid lipofuscinosis in sheep. II. The major component of the lipopigment in liver, kidney, pancreas, and brain is low molecular weight protein J. Biol. Chem. 261 1986 1773 1777
    • (1986) J. Biol. Chem. , vol.261 , pp. 1773-1777
    • Palmer, D.N.1    Barns, G.2    Husbands, D.R.3    Jolly, R.D.4
  • 58
    • 0022973978 scopus 로고
    • Ceroid lipofuscinosis in sheep. I. Bis(monoacylglycero)phosphate, dolichol, ubiquinone, phospholipids, fatty acids, and fluorescence in liver lipopigment lipids
    • Palmer D.N. Husbands D.R. Winter P.J. Blunt J.W. Jolly R.D. Ceroid lipofuscinosis in sheep. I. Bis(monoacylglycero)phosphate, dolichol, ubiquinone, phospholipids, fatty acids, and fluorescence in liver lipopigment lipids J. Biol. Chem. 261 1986 1766 1772
    • (1986) J. Biol. Chem. , vol.261 , pp. 1766-1772
    • Palmer, D.N.1    Husbands, D.R.2    Winter, P.J.3    Blunt, J.W.4    Jolly, R.D.5
  • 59
    • 0024265736 scopus 로고
    • Ovine ceroid-lipofuscinosis: Lipopigment composition is indicative of a lysosomal proteinosis
    • Palmer D.N. Martinus R.D. Barns G. Reeves R.D. Jolly R.D. Ovine ceroid-lipofuscinosis: Lipopigment composition is indicative of a lysosomal proteinosis Am. J. Med. Genet. Suppl. 5 1988 141 158
    • (1988) Am. J. Med. Genet. , Issue.Suppl. 5 , pp. 141-158
    • Palmer, D.N.1    Martinus, R.D.2    Barns, G.3    Reeves, R.D.4    Jolly, R.D.5
  • 61
    • 0025106329 scopus 로고
    • Lysosomal storage of the DCCD-reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroid-lipofuscinosis
    • Palmer D.N. Fearnley I.M. Medd S.M. Walker J.E. Martinus R.D. Bayliss S. Hall N.A. Lake B.D. Wolfe L.S. Jolly R.D. Lysosomal storage of the DCCD-reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroid-lipofuscinosis Porta E.A. Lipofuscin and Ceroid Pigments 1990 Plenum Press New York 211 223
    • (1990) , pp. 211-223
    • Palmer, D.N.1    Fearnley, I.M.2    Medd, S.M.3    Walker, J.E.4    Martinus, R.D.5    Bayliss, S.6    Hall, N.A.7    Lake, B.D.8    Wolfe, L.S.9    Jolly, R.D.10
  • 63
    • 0031047001 scopus 로고    scopus 로고
    • Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid lipofuscinosis
    • Palmer D.N. Tyynela J. van Mil H.C. Westlake J.V. Jolly R.D. Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid lipofuscinosis J. Inher. Metab. Dis. 20 1997 74 84
    • (1997) J. Inher. Metab. Dis. , vol.20 , pp. 74-84
    • Palmer, D.N.1    Tyynela, J.2    van Mil, H.C.3    Westlake, J.V.4    Jolly, R.D.5
  • 64
    • 0016538775 scopus 로고
    • Lysosomal storage disease in Chihuahuas
    • Rac R. Giesecke P.R. Lysosomal storage disease in Chihuahuas Austral. Vet. J. 51 1975 403 404
    • (1975) Austral. Vet. J. , vol.51 , pp. 403-404
    • Rac, R.1    Giesecke, P.R.2
  • 67
    • 0029048727 scopus 로고
    • Tissue and cellular distribution of subunit c of ATP synthase in Batten disease (neuronal ceroid-lipofuscinosis)
    • Rowan S.A. Lake B.D. Tissue and cellular distribution of subunit c of ATP synthase in Batten disease (neuronal ceroid-lipofuscinosis) Am. J. Med. Genet. 57 1995 172 176
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 172-176
    • Rowan, S.A.1    Lake, B.D.2
  • 68
    • 0032978418 scopus 로고    scopus 로고
    • Utilization of genetically altered animals in the pharmaceutical industry
    • Rudmann D.G. Durham S.K. Utilization of genetically altered animals in the pharmaceutical industry Toxicol. Pathol. 27 1999 111 114
    • (1999) Toxicol. Pathol. , vol.27 , pp. 111-114
    • Rudmann, D.G.1    Durham, S.K.2
  • 69
    • 0031803649 scopus 로고    scopus 로고
    • CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
    • Savukoski M. Klockars T. Holmberg V. Santavuori P. Lander E.S. Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis Nat. Genet. 19 1998 286 288
    • (1998) Nat. Genet. , vol.19 , pp. 286-288
    • Savukoski, M.1    Klockars, T.2    Holmberg, V.3    Santavuori, P.4    Lander, E.S.5    Peltonen, L.6
  • 71
    • 0032080693 scopus 로고    scopus 로고
    • Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid lipofuscinosis in English setter dogs
    • Shibuya H. Liu P. Katz M.L. Siakotos A.N. Nonneman D.J. Johnson G.J. Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid lipofuscinosis in English setter dogs J. Neurosci. Res. 52 1998 268 275
    • (1998) J. Neurosci. Res. , vol.52 , pp. 268-275
    • Shibuya, H.1    Liu, P.2    Katz, M.L.3    Siakotos, A.N.4    Nonneman, D.J.5    Johnson, G.J.6
  • 72
    • 0029782734 scopus 로고    scopus 로고
    • Rat brain contains levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis
    • Sleat D.E. Sohar I. Lackland H. Majercak J. Lobel P. Rat brain contains levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis J. Biol. Chem. 271 1996 19191 19198
    • (1996) J. Biol. Chem. , vol.271 , pp. 19191-19198
    • Sleat, D.E.1    Sohar, I.2    Lackland, H.3    Majercak, J.4    Lobel, P.5
  • 73
    • 0030866233 scopus 로고    scopus 로고
    • Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
    • Sleat D.E. Donnelly R.J. Lackland H. Liu C. Sohar I. Pullarkat R.K. Lobel P. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis Science 277 1997 1802 1805
    • (1997) Science , vol.277 , pp. 1802-1805
    • Sleat, D.E.1    Donnelly, R.J.2    Lackland, H.3    Liu, C.4    Sohar, I.5    Pullarkat, R.K.6    Lobel, P.7
  • 75
    • 0032778867 scopus 로고    scopus 로고
    • Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models
    • Sohar I. Sleat D.E. Jadot M. Lobel P. Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models J. Neurochem. 73 1999 700 711
    • (1999) J. Neurochem. , vol.73 , pp. 700-711
    • Sohar, I.1    Sleat, D.E.2    Jadot, M.3    Lobel, P.4
  • 76
    • 0032619765 scopus 로고    scopus 로고
    • Apc gene knockout mice as a model for familial adenomatous polyposis
    • Taketo M.M. Apc gene knockout mice as a model for familial adenomatous polyposis Prog. Exp. Tumor Res. 35 1999 109 119
    • (1999) Prog. Exp. Tumor Res. , vol.35 , pp. 109-119
    • Taketo, M.M.1
  • 77
    • 0026581688 scopus 로고
    • Ceroid lipofuscinosis in the border collie dog: Retinal lesions in an animal model of juvenile Batten disease
    • Tayler R.M. Farrow B.R.H. Ceroid lipofuscinosis in the border collie dog: Retinal lesions in an animal model of juvenile Batten disease Am. J. Human Genet. 42 1992 622 627
    • (1992) Am. J. Human Genet. , vol.42 , pp. 622-627
    • Tayler, R.M.1    Farrow, B.R.H.2
  • 78
    • 0027224115 scopus 로고
    • Storage of saposins A and B in infantile neuronal ceroid-lipofuscinoses
    • Tyynela J. Palmer D.N. Baumann M. Haltia M. Storage of saposins A and B in infantile neuronal ceroid-lipofuscinoses FEBS Lett. 330 1993 8 12
    • (1993) FEBS Lett. , vol.330 , pp. 8-12
    • Tyynela, J.1    Palmer, D.N.2    Baumann, M.3    Haltia, M.4
  • 79
    • 0029013145 scopus 로고
    • Sphingolipid activator proteins (SAPs) are stored together with glycosphingolipids in the infantile neuronal ceroid-lipofuscinosis (INCL)
    • Tyynela J. Baumann M. Hensler M. Sandhoff K. Haltia M. Sphingolipid activator proteins (SAPs) are stored together with glycosphingolipids in the infantile neuronal ceroid-lipofuscinosis (INCL) Am. J. Med. Genet. 57 1995 294 297
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 294-297
    • Tyynela, J.1    Baumann, M.2    Hensler, M.3    Sandhoff, K.4    Haltia, M.5
  • 80
    • 0030744225 scopus 로고    scopus 로고
    • Sphingolipid activator proteins (SAPs) in neuronal ceroid-lipofuscinosis (NCL)
    • Tyynela J. Suopanki J. Baumann M. Haltia M. Sphingolipid activator proteins (SAPs) in neuronal ceroid-lipofuscinosis (NCL) Pediatrics 28 1997 49 52
    • (1997) Pediatrics , vol.28 , pp. 49-52
    • Tyynela, J.1    Suopanki, J.2    Baumann, M.3    Haltia, M.4
  • 82
    • 0031576839 scopus 로고    scopus 로고
    • Abnormalities in mitochondria-associated membranes and phospholipid biosynthetic enzymes in the mnd/mnd mouse model of neuronal ceroid lipofuscinosis
    • Vance J.E. Stone S.J. Faust J.R. Abnormalities in mitochondria-associated membranes and phospholipid biosynthetic enzymes in the mnd/mnd mouse model of neuronal ceroid lipofuscinosis Biochim. Biophys. Acta 1344 1997 286 299
    • (1997) Biochim. Biophys. Acta , vol.1344 , pp. 286-299
    • Vance, J.E.1    Stone, S.J.2    Faust, J.R.3
  • 84
    • 0030739402 scopus 로고    scopus 로고
    • Neuronal ceroid-lipofuscinosis in a domestic cat: Clinical, morphological and immunohistochemical findings
    • Weissenbock H. Rossel C. Neuronal ceroid-lipofuscinosis in a domestic cat: Clinical, morphological and immunohistochemical findings J. Comp. Pathol. 117 1997 17 24
    • (1997) J. Comp. Pathol. , vol.117 , pp. 17-24
    • Weissenbock, H.1    Rossel, C.2
  • 85
    • 0033554363 scopus 로고    scopus 로고
    • Characterization of targeted connexin32-deficient mice: A model for the human Charcot-Marie-Tooth (X-type) inherited disease
    • Willecke K. Temme A. Teubner B. Ott T. Characterization of targeted connexin32-deficient mice: A model for the human Charcot-Marie-Tooth (X-type) inherited disease Ann. N.Y. Acad. Sci. 883 1999 302 309
    • (1999) Ann. N.Y. Acad. Sci. , vol.883 , pp. 302-309
    • Willecke, K.1    Temme, A.2    Teubner, B.3    Ott, T.4
  • 86
    • 0024196294 scopus 로고
    • Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities
    • Wisniewski K.E. Rapin I. Heaney-Kieras J. Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities Am. J. Med. Genet. Suppl. 5 1988 27 46
    • (1988) Am. J. Med. Genet. , Issue.Suppl. 5 , pp. 27-46
    • Wisniewski, K.E.1    Rapin, I.2    Heaney-Kieras, J.3
  • 87
    • 0028359805 scopus 로고
    • Increased urine concentration of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinosis patients
    • Wisniewski K.E. Golabek A.A. Kida E. Increased urine concentration of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinosis patients J. Inherit. Metabol. Dis. 17 1995 205 210
    • (1995) J. Inherit. Metabol. Dis. , vol.17 , pp. 205-210
    • Wisniewski, K.E.1    Golabek, A.A.2    Kida, E.3
  • 88
    • 0032798676 scopus 로고    scopus 로고
    • Transgenes and knockout mutations in animal models of type 1 diabetes and multiple sclerosis
    • Wong F.S. Dittel B.N. Janeway C.A.J. Transgenes and knockout mutations in animal models of type 1 diabetes and multiple sclerosis Immunol. Rev. 169 1999 93 104
    • (1999) Immunol. Rev. , vol.169 , pp. 93-104
    • Wong, F.S.1    Dittel, B.N.2    Janeway, C.A.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.