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Volumn 44, Issue , 2001, Pages 1-9

1. Tay-Sachs disease: From clinical description to molecular defect

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; GENETICS; HISTORY; HUMAN; TAY SACHS DISEASE;

EID: 0035236766     PISSN: 00652660     EISSN: None     Source Type: Book Series    
DOI: 10.1016/s0065-2660(01)44065-x     Document Type: Review
Times cited : (13)

References (56)
  • 1
    • 4444315611 scopus 로고
    • Genetic and demographic considerations concerning Tay-Sachs disease
    • S.M. Aronson B.W. Volk Genetic and demographic considerations concerning Tay-Sachs disease S.M. Aronson B.W. Volk Cerebral Sphingolipidoses 1962 Academic Press New York 375 394
    • (1962) , pp. 375-394
    • Aronson, S.M.1    Volk, B.W.2
  • 2
    • 33750439998 scopus 로고
    • Infantile amaurotic family idiocy: Occurrence, genetic considerations and pathophysiology in the non-Jewish infant
    • S.M. Aronson M.P. Valsamis B.W. Volk Infantile amaurotic family idiocy: Occurrence, genetic considerations and pathophysiology in the non-Jewish infant Pediatrics 26 1960 229 242
    • (1960) Pediatrics , vol.26 , pp. 229-242
    • Aronson, S.M.1    Valsamis, M.P.2    Volk, B.W.3
  • 4
    • 0016778945 scopus 로고
    • Assignment of the human gene for Hex B to chromosome 5
    • H.J. Boedecker W.J. Mellman T.A. Tedesco Assignment of the human gene for Hex B to chromosome 5 Exp. Cell Res. 93 1975 468 475
    • (1975) Exp. Cell Res. , vol.93 , pp. 468-475
    • Boedecker, H.J.1    Mellman, W.J.2    Tedesco, T.A.3
  • 5
    • 0014012410 scopus 로고
    • The sphingolipidoses
    • R.O. Brady The sphingolipidoses N. Engl. J. Med. 275 1966 312 318
    • (1966) N. Engl. J. Med. , vol.275 , pp. 312-318
    • Brady, R.O.1
  • 6
    • 50549198437 scopus 로고
    • Metabolism of glucocerebrosides, II. Evidence of enzymatic deficiency in Gaucher's disease
    • R.O. Brady J.N. Kanfer D. Shapiro Metabolism of glucocerebrosides, II. Evidence of enzymatic deficiency in Gaucher's disease Biochem. Biophys. Res. Commun. 18 1965 221 225
    • (1965) Biochem. Biophys. Res. Commun. , vol.18 , pp. 221-225
    • Brady, R.O.1    Kanfer, J.N.2    Shapiro, D.3
  • 7
    • 0013881132 scopus 로고
    • Metabolism of sphingomyelin. II. Evidence of enzymatic deficiency in Niemann-Pick disease
    • R.O. Brady J.N. Kanfer M.B. Mock D.S. Frederickson Metabolism of sphingomyelin. II. Evidence of enzymatic deficiency in Niemann-Pick disease Proc. Natl. Acad. Sci. (USA) 55 1966 366 369
    • (1966) , pp. 366-369
    • Brady, R.O.1    Kanfer, J.N.2    Mock, M.B.3    Frederickson, D.S.4
  • 8
    • 85120147391 scopus 로고
    • Assignment of the structural genes for the α-subunit of hexosaminidase A, mannose phosphate isomerase and pyruvate kinase to the region of 22q ter of human chromosome 15
    • C.J. Chern R. Kenneth E. Engel Assignment of the structural genes for the α-subunit of hexosaminidase A, mannose phosphate isomerase and pyruvate kinase to the region of 22q ter of human chromosome 15 Somatic Cell Genet. 3 1977 533 542
    • (1977) Somatic Cell Genet. , vol.3 , pp. 533-542
    • Chern, C.J.1    Kenneth, R.2    Engel, E.3
  • 9
    • 0021216523 scopus 로고
    • Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency
    • A. d'Azzo R.L. Proia E.H. Kolodny M.M. Kaback E.F. Neufeld Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency J. Biol. Chem. 259 1984 11070
    • (1984) J. Biol. Chem. , vol.259 , pp. 11070
    • d'Azzo, A.1    Proia, R.L.2    Kolodny, E.H.3    Kaback, M.M.4    Neufeld, E.F.5
  • 11
    • 0017153536 scopus 로고
    • Chemical characterization and subunit structures of human N-acetylhexosaminidases A and B
    • B. Geiger R. Arnon Chemical characterization and subunit structures of human N-acetylhexosaminidases A and B Biochemistry 15 1976 3484 3496
    • (1976) Biochemistry , vol.15 , pp. 3484-3496
    • Geiger, B.1    Arnon, R.2
  • 13
    • 85120136729 scopus 로고
    • H.G. Hers F. Van Hoof Lysomes and Storage Diseases 1973 Academic Press New York 21
    • (1973) , pp. 21
  • 14
    • 85120133907 scopus 로고
    • Thermal fractionation of serum hexosaminidase: Applications to heterozygote detection and diagnosis of Tay-Sachs disease
    • M.M. Kaback Thermal fractionation of serum hexosaminidase: Applications to heterozygote detection and diagnosis of Tay-Sachs disease V. Ginsburg E. Neufeld Methods of Enzymology Vol. 28 1973 Academic Press New York 862 867
    • (1973) , pp. 862-867
    • Kaback, M.M.1
  • 15
    • 85120131048 scopus 로고
    • M.M. Kaback Tay-Sachs Disease: Screening and Prevention Prog. Clin. Biol. Res. Vol. 18 1977
    • (1977)
  • 16
    • 85022079858 scopus 로고
    • The prevention of recessive genetic disease: Feasibility costs, and genetic impact
    • M.M. Kaback J.S. O'Brien The prevention of recessive genetic disease: Feasibility costs, and genetic impact Proc. Am. Ped. Soc. & Soc. Ped. Res. 1971 283 May
    • (1971) , pp. 283
    • Kaback, M.M.1    O'Brien, J.S.2
  • 17
    • 0004370211 scopus 로고
    • Heterozygote detection in Tay-Sachs disease: A prototype community screening program for the prevention of recessive genetic disorders
    • M.M. Kaback R.S. Zeiger Heterozygote detection in Tay-Sachs disease: A prototype community screening program for the prevention of recessive genetic disorders B.W. Volk S.M. Aronson Sphingolipids, Sphingolipidoses, and Allied Disorders Advances in Experimental Medicine and Biology Vol. 19 1972 Plenum Press New York 613 632
    • (1972) , pp. 613-632
    • Kaback, M.M.1    Zeiger, R.S.2
  • 19
    • 85171972958 scopus 로고
    • Uber die Ganglioside des Gehirns bei der infantilen amaurotischen Idiotie vom Typus Tay-Sachs
    • E. Klenk Uber die Ganglioside des Gehirns bei der infantilen amaurotischen Idiotie vom Typus Tay-Sachs Ber. Dtsch. Chem. Ges. 75 1942 1632 1636
    • (1942) Ber. Dtsch. Chem. Ges. , vol.75 , pp. 1632-1636
    • Klenk, E.1
  • 20
    • 0014687950 scopus 로고
    • Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease
    • E.H. Kolodny R.O. Brady B.W. Volk Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease Biochem. Biophys. Res. Commun. 37 1969 526 531
    • (1969) Biochem. Biophys. Res. Commun. , vol.37 , pp. 526-531
    • Kolodny, E.H.1    Brady, R.O.2    Volk, B.W.3
  • 21
    • 0026612536 scopus 로고
    • Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles
    • E.C. Landels P.M. Green I.H. Ellis A.H. Fensom M. Bobrow Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles J. Med. Genet. 29 1992 563
    • (1992) J. Med. Genet. , vol.29 , pp. 563
    • Landels, E.C.1    Green, P.M.2    Ellis, I.H.3    Fensom, A.H.4    Bobrow, M.5
  • 22
    • 0010355316 scopus 로고
    • Structure of the Tay-Sachs ganglioside
    • R. Ledeen K. Salsman Structure of the Tay-Sachs ganglioside J. Biochem. 4 1965 2225 2232
    • (1965) J. Biochem. , vol.4 , pp. 2225-2232
    • Ledeen, R.1    Salsman, K.2
  • 24
    • 0026630463 scopus 로고
    • The presence of two different infantile Tay-Sachs disease mutations in a Cajun population
    • G.A. McDowell E.H. Mules P. Fabacher The presence of two different infantile Tay-Sachs disease mutations in a Cajun population Am. J. Hum. Genet. 51 1992 1071 1077
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 1071-1077
    • McDowell, G.A.1    Mules, E.H.2    Fabacher, P.3
  • 25
    • 3543000634 scopus 로고
    • Evidence for genetic block in metachromatic leucodystrophy (ML)
    • E. Mehl H. Jatzkewitz Evidence for genetic block in metachromatic leucodystrophy (ML) Biochem. Biophys. Res. Commun. 19 1965 407 411
    • (1965) Biochem. Biophys. Res. Commun. , vol.19 , pp. 407-411
    • Mehl, E.1    Jatzkewitz, H.2
  • 26
  • 27
    • 0023252353 scopus 로고
    • A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease
    • R. Myerowitz N.D. Hogikyan A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease J. Biol. Chem. 262 1987 15396
    • (1987) J. Biol. Chem. , vol.262 , pp. 15396
    • Myerowitz, R.1    Hogikyan, N.D.2
  • 28
    • 0004416273 scopus 로고
    • Human- hexosaminidase-chain: Coding sequence and homology with the β-chain
    • R. Myerowitz R. Piekarz E.F. Neufeld T.B. Shows K. Suzuki Human- hexosaminidase-chain: Coding sequence and homology with the β-chain Proc. Natl. Acad. Sci. (USA) 82 1985 7830 7838
    • (1985) , pp. 7830-7838
    • Myerowitz, R.1    Piekarz, R.2    Neufeld, E.F.3    Shows, T.B.4    Suzuki, K.5
  • 29
    • 0004373321 scopus 로고
    • Some epidemiologic and genetic aspects of Tay-Sachs disease
    • N.C. Myrianthopoulos Some epidemiologic and genetic aspects of Tay-Sachs disease S.M. Aronson B.W. Volk Cerebral Sphingolipidoses 1962 Academic Press New York 359 374
    • (1962) , pp. 359-374
    • Myrianthopoulos, N.C.1
  • 30
    • 84882039787 scopus 로고
    • Reproductive fitness and selection in Tay-Sachs disease
    • N.C. Myrianthopoulos S.M. Aronson Reproductive fitness and selection in Tay-Sachs disease S.M. Aronson B.W. Volk Inborn Disorders of Sphingolipid Metabolism 1967 Pergamon Press Oxford, UK 431 441
    • (1967) , pp. 431-441
    • Myrianthopoulos, N.C.1    Aronson, S.M.2
  • 31
    • 0015208427 scopus 로고
    • Prenatal diagnosis of Tay-Sachs genotypes
    • R. Navon B. Padeh Prenatal diagnosis of Tay-Sachs genotypes Br. Med. J. 4 1971 17 20
    • (1971) Br. Med. J. , vol.4 , pp. 17-20
    • Navon, R.1    Padeh, B.2
  • 32
    • 0014930293 scopus 로고
    • Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum hexosaminidase assay
    • J.S. O'Brien S. Okada A. Chan D.L. Fillerup Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum hexosaminidase assay N. Engl. J. Med. 283 1970 15 20
    • (1970) N. Engl. J. Med. , vol.283 , pp. 15-20
    • O'Brien, J.S.1    Okada, S.2    Chan, A.3    Fillerup, D.L.4
  • 34
    • 0014678521 scopus 로고
    • Tay-Sachs disease: Generalised absence of a beta-D-N-acetylhexosaminidase component
    • S. Okada J.S. O'Brien Tay-Sachs disease: Generalised absence of a beta-D-N-acetylhexosaminidase component Science 165 1969 698 700
    • (1969) Science , vol.165 , pp. 698-700
    • Okada, S.1    O'Brien, J.S.2
  • 35
    • 0014993128 scopus 로고
    • Ganglioside GM2 storage diseases: Hexosaminidase deficiencies in cultured fibroblasts
    • S. Okada M.L. Veat J. Leroy J.S. O'Brien Ganglioside GM2 storage diseases: Hexosaminidase deficiencies in cultured fibroblasts Am. J. Hum. Genet. 23 1971 55
    • (1971) Am. J. Hum. Genet. , vol.23 , pp. 55
    • Okada, S.1    Veat, M.L.2    Leroy, J.3    O'Brien, J.S.4
  • 36
    • 0025048275 scopus 로고
    • Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program
    • B.H. Paw P.T. Tieu M.M. Kaback J. Lim E. Neufeld Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program Am. J. Hum. Genet. 47 1990 698 705
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 698-705
    • Paw, B.H.1    Tieu, P.T.2    Kaback, M.M.3    Lim, J.4    Neufeld, E.5
  • 38
    • 0023184676 scopus 로고
    • Organization of the gene encoding the human β-hexosaminidase α-chain
    • R.L. Proia E. Soravia Organization of the gene encoding the human β-hexosaminidase α-chain J. Biol. Chem. 262 1987 5677 5681
    • (1987) J. Biol. Chem. , vol.262 , pp. 5677-5681
    • Proia, R.L.1    Soravia, E.2
  • 39
    • 0021287593 scopus 로고
    • Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts
    • R.L. Proia A. d'Azzo E.F. Neufeld Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts J. Biol. Chem. 259 1984 3350
    • (1984) J. Biol. Chem. , vol.259 , pp. 3350
    • Proia, R.L.1    d'Azzo, A.2    Neufeld, E.F.3
  • 40
    • 0014274419 scopus 로고
    • N-acetyl-beta-glucosaminidase in human spleen
    • D. Robinson J.L. Stirling N-acetyl-beta-glucosaminidase in human spleen Biochem. J. 107 1968 321 327
    • (1968) Biochem. J. , vol.107 , pp. 321-327
    • Robinson, D.1    Stirling, J.L.2
  • 41
    • 84939085791 scopus 로고
    • A family form of idiocy, generally fatal, associated with early blindness
    • B. Sachs A family form of idiocy, generally fatal, associated with early blindness J. Nerv. Ment. Dis. 14 1896 475 479
    • (1896) J. Nerv. Ment. Dis. , vol.14 , pp. 475-479
    • Sachs, B.1
  • 42
    • 0001291486 scopus 로고
    • On arrested cerebral development with special reference to its cortical pathology
    • B. Sachs On arrested cerebral development with special reference to its cortical pathology J. Nerv. Ment. Dis. 14 1897 541
    • (1897) J. Nerv. Ment. Dis. , vol.14 , pp. 541
    • Sachs, B.1
  • 43
    • 85120137297 scopus 로고
    • The membranous granules in Tay-Sachs Disease
    • S. Samuels S.R. Korey J. Gonatas R.D. Terry M. Weiss The membranous granules in Tay-Sachs Disease S.M. Aronson B.W. Volk Cerebral Sphingolipidoses 1962 Academic Press New York 304
    • (1962) , pp. 304
    • Samuels, S.1    Korey, S.R.2    Gonatas, J.3    Terry, R.D.4    Weiss, M.5
  • 44
    • 0000604351 scopus 로고
    • Variation of beta N-acetylhexosaminidase pattern in Tay-Sachs disease
    • K. Sandhoff Variation of beta N-acetylhexosaminidase pattern in Tay-Sachs disease FEBS Lett. 4 1969 351 359
    • (1969) FEBS Lett. , vol.4 , pp. 351-359
    • Sandhoff, K.1
  • 45
    • 0014415629 scopus 로고
    • Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs
    • K. Sandhoff U. Andreae H. Jatzkewitz Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs Life Sci. 7 1968 283 288
    • (1968) Life Sci. , vol.7 , pp. 283-288
    • Sandhoff, K.1    Andreae, U.2    Jatzkewitz, H.3
  • 47
    • 3442889343 scopus 로고
    • The genetic basis of amaurotic family idiocy
    • D. Slome The genetic basis of amaurotic family idiocy J. Genet. 27 1933 363 372
    • (1933) J. Genet. , vol.27 , pp. 363-372
    • Slome, D.1
  • 48
    • 0001505815 scopus 로고
    • The chemical structure of normal human brain and Tay-Sachs angliosides
    • L. Svennerholm The chemical structure of normal human brain and Tay-Sachs angliosides Biochem. Biophys. Res. Commun. 9 1962 436 441
    • (1962) Biochem. Biophys. Res. Commun. , vol.9 , pp. 436-441
    • Svennerholm, L.1
  • 49
    • 0000717468 scopus 로고
    • Symmetrical changes in the region of the yellow spot in each eye of an infant
    • W. Tay Symmetrical changes in the region of the yellow spot in each eye of an infant Trans. Opthal. Soc. UK 1 1881 55 57
    • (1881) Trans. Opthal. Soc. UK , vol.1 , pp. 55-57
    • Tay, W.1
  • 50
    • 0009587902 scopus 로고
    • Third instance in same family of symmetrical changes in the region of yellow spot in each eye of an infant closely resembling those of embolism
    • W. Tay Third instance in same family of symmetrical changes in the region of yellow spot in each eye of an infant closely resembling those of embolism Trans. Opthal. Soc. UK 4 1884 158
    • (1884) Trans. Opthal. Soc. UK , vol.4 , pp. 158
    • Tay, W.1
  • 51
    • 3542994691 scopus 로고
    • Membranous cytoplasmic granules in infantile amaurotic diocy
    • R.D. Terry S.R. Korey Membranous cytoplasmic granules in infantile amaurotic diocy Nature 188 1960 1000 1002
    • (1960) Nature , vol.188 , pp. 1000-1002
    • Terry, R.D.1    Korey, S.R.2
  • 52
    • 2042443454 scopus 로고
    • Studies in Tay-Sachs disease. II. Ultrastructure of the cerebrum
    • R.D. Terry M. Weiss Studies in Tay-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
  • 53
    • 85024808730 scopus 로고
    • Electron microscopy of the cerebrum in Tay-Sachs disease
    • R.D. Terry S.R. Korey M. Weiss Electron microscopy of the cerebrum in Tay-Sachs disease S.M. Aronson B.W. Volk Cerebral Sphingolipidoses 1962 Academic Press New York 49 56
    • (1962) , pp. 49-56
    • Terry, R.D.1    Korey, S.R.2    Weiss, M.3
  • 54
    • 0026048333 scopus 로고
    • Sequence of DNA flanking the exons of the HEX A gene and identification of mutations in Tay-Sachs disease
    • B.L. Triggs-Raine B.R. Akerman J.T.R. Clarke R.A. Gravel Sequence of DNA flanking the exons of the HEX A gene and identification of mutations in Tay-Sachs disease Am. J. Hum. Genet. 49 1991 1041 1054
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 1041-1054
    • Triggs-Raine, B.L.1    Akerman, B.R.2    Clarke, J.T.R.3    Gravel, R.A.4
  • 55
    • 84909481909 scopus 로고
    • Electron microscopic and histochemical studies of viscera in lipidoses
    • B.J. Wallace S.S. Jazarus B.W. Volk Electron microscopic and histochemical studies of viscera in lipidoses S.M. Aronson B.W. Volk Inborn Disorders of Sphingolipid Metabolism 1967 Pergamon Press Oxford, UK 107 120
    • (1967) , pp. 107-120
    • Wallace, B.J.1    Jazarus, S.S.2    Volk, B.W.3
  • 56
    • 0027959501 scopus 로고
    • Targeted disruption of the Hex A gene results in mice with biochemical and pathologic features of Tay-Sachs disease
    • S. Yamanaka M. Johnson A. Grinberg H. Westphal J.W. Crawley M. Taniike K. Suzuki R.L. Proia Targeted disruption of the Hex A gene results in mice with biochemical and pathologic features of Tay-Sachs disease Proc. Nat. Acad. Sci. (USA) 91 1994 9975 9979
    • (1994) , pp. 9975-9979
    • Yamanaka, S.1    Johnson, M.2    Grinberg, A.3    Westphal, H.4    Crawley, J.W.5    Taniike, M.6    Suzuki, K.7    Proia, R.L.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.