메뉴 건너뛰기




Volumn 56, Issue 6, 1997, Pages 693-703

Mice deficient in all forms of lysosomal β-hexosaminidase show mucopolysaccharidosis-like pathology

Author keywords

Glycosaminoglycans; GM2 gangliosidosis; Hypomyelination; Knockout mice; Microglia; Mucopolysaccharidosis

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; GANGLIOSIDE GM2; GLYCOSAMINOGLYCAN; LYSOSOME ENZYME;

EID: 0030833982     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005072-199706000-00007     Document Type: Article
Times cited : (35)

References (33)
  • 1
    • 16144368388 scopus 로고    scopus 로고
    • Mice lacking both subunits of lysosomal β-hexosaminidase display gangliosidosis and mucopolysaccharidosis
    • Sango K, McDonald MP, Crawley JN, et al. Mice lacking both subunits of lysosomal β-hexosaminidase display gangliosidosis and mucopolysaccharidosis. Nature Genetics 1996;14:348-52
    • (1996) Nature Genetics , vol.14 , pp. 348-352
    • Sango, K.1    McDonald, M.P.2    Crawley, J.N.3
  • 3
    • 0027959501 scopus 로고
    • Targeted disruption of the Hexa gene results in mice with biochemical and pathological features of Tay-Sachs disease
    • Yamanaka S, Johnson MD, Grinberg A. Targeted disruption of the Hexa gene results in mice with biochemical and pathological features of Tay-Sachs disease. Proc Natl Acad Sci USA 1994;91:9975-79
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 9975-9979
    • Yamanaka, S.1    Johnson, M.D.2    Grinberg, A.3
  • 4
    • 0029113867 scopus 로고
    • Mouse models of TaySachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism
    • Sango K, Yamanaka S, Hoffmann A, et al. Mouse models of TaySachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nature Genetics 1995;11:170-76
    • (1995) Nature Genetics , vol.11 , pp. 170-176
    • Sango, K.1    Yamanaka, S.2    Hoffmann, A.3
  • 5
    • 9044236158 scopus 로고    scopus 로고
    • Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases
    • Phaneuf D, Wakamatsu N, Huang JQ, et al. Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Human Mol Genet 1996;5:1-14
    • (1996) Human Mol Genet , vol.5 , pp. 1-14
    • Phaneuf, D.1    Wakamatsu, N.2    Huang, J.Q.3
  • 6
    • 0029450413 scopus 로고
    • Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease
    • Cohen-Tannoudji M, Marchand P, Akli S, et al. Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. Manmalian Genome 1995;8:844-49
    • (1995) Manmalian Genome , vol.8 , pp. 844-849
    • Cohen-Tannoudji, M.1    Marchand, P.2    Akli, S.3
  • 7
    • 0029982572 scopus 로고    scopus 로고
    • Targeted disruption of the mouse sphingolipid activator protein gene: A complex phenotype, including severe leukodystrophy and wide spread storage of multiple sphingolipids
    • Fujita N, Suzuki K, Vanier MT, et al. Targeted disruption of the mouse sphingolipid activator protein gene: A complex phenotype, including severe leukodystrophy and wide spread storage of multiple sphingolipids. Human Mol Genet 1996;7:711-25
    • (1996) Human Mol Genet , vol.7 , pp. 711-725
    • Fujita, N.1    Suzuki, K.2    Vanier, M.T.3
  • 9
    • 0022907623 scopus 로고
    • A specific histochemical marker (Lectin Ricinus communis agglutinin-1) for normal human microglia and application to routine histopathology
    • Mannojo H, Yeger H, Becker LE. A specific histochemical marker (Lectin Ricinus communis agglutinin-1) for normal human microglia and application to routine histopathology. Acta Neuropathol 1985;71:341-43
    • (1985) Acta Neuropathol , vol.71 , pp. 341-343
    • Mannojo, H.1    Yeger, H.2    Becker, L.E.3
  • 10
    • 0025986957 scopus 로고
    • Application of lectin and B-lymphocyte-specific monoclonal antibodies for the demonstration of human microglia in formalin-fixed, paraffinembedded brain tissue
    • Sasaki A, Nakanishi Y, Nakazato Y, Yamaguchi H. Application of lectin and B-lymphocyte-specific monoclonal antibodies for the demonstration of human microglia in formalin-fixed, paraffinembedded brain tissue. Virchow Archiv A Pathol Anat 1991;419: 291-99
    • (1991) Virchow Archiv A Pathol Anat , vol.419 , pp. 291-299
    • Sasaki, A.1    Nakanishi, Y.2    Nakazato, Y.3    Yamaguchi, H.4
  • 11
    • 4444344998 scopus 로고
    • Neuronal storage disease: A review
    • Zimmerman HM, ed. New York: Grune & Stratton
    • Suzuki, K. Neuronal storage disease: A review. In: Zimmerman HM, ed. Progress in neuropathology, Vol. III. New York: Grune & Stratton, 1976:173-202
    • (1976) Progress in Neuropathology , vol.3 , pp. 173-202
    • Suzuki, K.1
  • 12
    • 1842316553 scopus 로고
    • Electron microscopy of two cerebral biopsies in gargoylism
    • Aleu FP, Terry RD, Zellweger H. Electron microscopy of two cerebral biopsies in gargoylism. J Neuropathol Exp Neurol 1965;24: 304-317
    • (1965) J Neuropathol Exp Neurol , vol.24 , pp. 304-317
    • Aleu, F.P.1    Terry, R.D.2    Zellweger, H.3
  • 14
    • 0016423066 scopus 로고
    • β-N acetylhexosaminidase active on dermatan sulfate
    • Singh J, Coppa GV, Di Ferrante N. β-N acetylhexosaminidase active on dermatan sulfate. Enzyme 1975;19:15-23
    • (1975) Enzyme , vol.19 , pp. 15-23
    • Singh, J.1    Coppa, G.V.2    Di Ferrante, N.3
  • 15
    • 0017214850 scopus 로고
    • Mucopolysaccharidosis type V Scheie syndrome: A postmortem study by multidisciplinary techniques with emphasis on the brain
    • Dekaban AS, Constantopoulos G, Herman MM, Steusing JK. Mucopolysaccharidosis type V Scheie syndrome: A postmortem study by multidisciplinary techniques with emphasis on the brain. Arch Pathol Lab Med 1976;100:237-45
    • (1976) Arch Pathol Lab Med , vol.100 , pp. 237-245
    • Dekaban, A.S.1    Constantopoulos, G.2    Herman, M.M.3    Steusing, J.K.4
  • 16
    • 0017775388 scopus 로고
    • Mucopolysaccharidosis types I, II, IIIA and V: Pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain
    • Dekaban AS, Constantopoulos G. Mucopolysaccharidosis types I, II, IIIA and V: Pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain. Acta Neuropathol 1977;39:l-7
    • (1977) Acta Neuropathol , vol.39
    • Dekaban, A.S.1    Constantopoulos, G.2
  • 18
    • 0028473064 scopus 로고
    • Feline mucopolysaccharidosis VII due to β-glucuronidase deficiency
    • Gitzelmann R, Bosshard U, Superti-Furga A, et al. Feline mucopolysaccharidosis VII due to β-glucuronidase deficiency. Vet Pathol 1994;31:435-43
    • (1994) Vet Pathol , vol.31 , pp. 435-443
    • Gitzelmann, R.1    Bosshard, U.2    Superti-Furga, A.3
  • 22
    • 0017758232 scopus 로고
    • Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: A model of Maroteaux-Lamy syndrome
    • Jezyk TF, Haskins ME, Patterson DF. Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: A model of Maroteaux-Lamy syndrome. Science 1977;198:834-36
    • (1977) Science , vol.198 , pp. 834-836
    • Jezyk, T.F.1    Haskins, M.E.2    Patterson, D.F.3
  • 24
    • 0026712987 scopus 로고
    • Nacetylglucosamine 6-sulfatase deficiency in a Nubian goat: A model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
    • Thompson JN, Jones MZ, Dawson G, Huffman PS. Nacetylglucosamine 6-sulfatase deficiency in a Nubian goat: A model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID). J Inheri Metab Dis 1992;15:760-68
    • (1992) J Inheri Metab Dis , vol.15 , pp. 760-768
    • Thompson, J.N.1    Jones, M.Z.2    Dawson, G.3    Huffman, P.S.4
  • 26
    • 0025139019 scopus 로고
    • A murine model of mucopolysaccharidosis VII: Gross and microscopic findings in beta-glucuronidase deficient mice
    • Vogler C, Birkenmeier EH, Sly WS, Levy B, Pegors C, Kyle JW, Beamer G. A murine model of mucopolysaccharidosis VII: Gross and microscopic findings in beta-glucuronidase deficient mice. Am J Path 1990;136:207-17
    • (1990) Am J Path , vol.136 , pp. 207-217
    • Vogler, C.1    Birkenmeier, E.H.2    Sly, W.S.3    Levy, B.4    Pegors, C.5    Kyle, J.W.6    Beamer, G.7
  • 30
  • 31
    • 0015939536 scopus 로고
    • The white matter in GM2 gangliosidosis: A comparative histopathological and biochemical study
    • Haberland C, Brunngraber E, Witting L, Brown B. The white matter in GM2 gangliosidosis: A comparative histopathological and biochemical study. Acta Neuropathol 1973;24:43-55
    • (1973) Acta Neuropathol , vol.24 , pp. 43-55
    • Haberland, C.1    Brunngraber, E.2    Witting, L.3    Brown, B.4
  • 33
    • 0023205026 scopus 로고
    • Lectin histochemistry and ultrastructure of feline kidneys from six different storage diseases
    • Castagnaro M, Alroy J, Ucci AA, Glew RH. Lectin histochemistry and ultrastructure of feline kidneys from six different storage diseases. Virchows Arch B 1987;54:16-26
    • (1987) Virchows Arch B , vol.54 , pp. 16-26
    • Castagnaro, M.1    Alroy, J.2    Ucci, A.A.3    Glew, R.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.