메뉴 건너뛰기




Volumn 96, Issue SUPPL. 455, 2007, Pages 6-16

Structure-function relationships in a -galactosidase A

Author keywords

Galactosidase; E.C. 3.2.1.22; Fabry disease; Glycosidase; Lysosomal storage disease

Indexed keywords

ALPHA GALACTOSIDASE; AMINO ACID;

EID: 33947592355     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2007.00198.x     Document Type: Conference Paper
Times cited : (54)

References (86)
  • 1
    • 0000889058 scopus 로고    scopus 로고
    • α-Galactosidase A deficiency: Fabry disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors, 8th ed. New York: McGraw-Hill
    • Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001: 3733-74.
    • (2001) The metabolic and molecular bases of inherited disease , pp. 3733-3774
    • Desnick, R.J.1    Ioannou, Y.A.2    Eng, C.M.3
  • 2
    • 34447607076 scopus 로고
    • Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)
    • Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph 1898; 43: 187-200.
    • (1898) Arch Dermatol Syph , vol.43 , pp. 187-200
    • Ein, F.J.1
  • 4
    • 0038777081 scopus 로고    scopus 로고
    • Enzyme replacement therapy: Conception, chaos and culmination
    • Brady RO. Enzyme replacement therapy: conception, chaos and culmination. Philos Trans R Soc Lond B Biol Sci 2003; 358: 915-9.
    • (2003) Philos Trans R Soc Lond B Biol Sci , vol.358 , pp. 915-919
    • Brady, R.O.1
  • 5
    • 1642537680 scopus 로고    scopus 로고
    • Gaucher and Fabry diseases: From understanding pathophysiology to rational therapies
    • Brady RO. Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies. Acta Paediatr Suppl 2003; 92: 19-24.
    • (2003) Acta Paediatr Suppl , vol.92 , pp. 19-24
    • Brady, R.O.1
  • 6
    • 1442299241 scopus 로고    scopus 로고
    • The molecular defect leading to Fabry disease: Structure of human α-galactosidase
    • Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human α-galactosidase. J Mol Biol 2004; 337: 319-35.
    • (2004) J Mol Biol , vol.337 , pp. 319-335
    • Garman, S.C.1    Garboczi, D.N.2
  • 7
    • 0035443118 scopus 로고    scopus 로고
    • Glycoside hydrolases and glycosyltransferases: Families and functional modules
    • Bourne Y, Henrissat B. Glycoside hydrolases and glycosyltransferases: families and functional modules. Curr Opin Struct Biol 2001; 11: 593-600.
    • (2001) Curr Opin Struct Biol , vol.11 , pp. 593-600
    • Bourne, Y.1    Henrissat, B.2
  • 8
    • 0013192938 scopus 로고    scopus 로고
    • A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease
    • Lee K, Jin X, Zhang K, Copertino L, Andrews L, Baker-Malcolm J, et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 2003; 13: 305-13.
    • (2003) Glycobiology , vol.13 , pp. 305-313
    • Lee, K.1    Jin, X.2    Zhang, K.3    Copertino, L.4    Andrews, L.5    Baker-Malcolm, J.6
  • 9
    • 0035163539 scopus 로고    scopus 로고
    • Fabry disease: Preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice
    • Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ. Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 2001; 68: 14-25.
    • (2001) Am J Hum Genet , vol.68 , pp. 14-25
    • Ioannou, Y.A.1    Zeidner, K.M.2    Gordon, R.E.3    Desnick, R.J.4
  • 11
    • 0033957834 scopus 로고    scopus 로고
    • The SWISS-PROT protein sequence database and its supplement TrEMBL in 2000
    • Bairoch A, Apweiler R. The SWISS-PROT protein sequence database and its supplement TrEMBL in 2000. Nucleic Acids Res 2000; 28: 45-8.
    • (2000) Nucleic Acids Res , vol.28 , pp. 45-48
    • Bairoch, A.1    Apweiler, R.2
  • 12
    • 0031092272 scopus 로고    scopus 로고
    • The human gene mutation database
    • Krawczak M, Cooper DN. The human gene mutation database. Trends Genet 1997; 13: 121-2.
    • (1997) Trends Genet , vol.13 , pp. 121-122
    • Krawczak, M.1    Cooper, D.N.2
  • 14
    • 0026244229 scopus 로고
    • MOLSCRIPT: A program to produce both detailed and schematic plots of protein structures
    • Kraulis PJ. MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures. J Appl Crystallogr 1991; 24: 946-50.
    • (1991) J Appl Crystallogr , vol.24 , pp. 946-950
    • Kraulis, P.J.1
  • 15
    • 33645223499 scopus 로고    scopus 로고
    • Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
    • Shabbeer J, Yasuda M, Benson SD, Desnick RJ. Fabry disease: identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics 2006; 2: 297-309.
    • (2006) Hum Genomics , vol.2 , pp. 297-309
    • Shabbeer, J.1    Yasuda, M.2    Benson, S.D.3    Desnick, R.J.4
  • 16
    • 23944489917 scopus 로고    scopus 로고
    • Fabry disease: Correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes
    • Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H. Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Hum Genet 2005; 117: 317-28.
    • (2005) Hum Genet , vol.117 , pp. 317-328
    • Matsuzawa, F.1    Aikawa, S.2    Doi, H.3    Okumiya, T.4    Sakuraba, H.5
  • 17
    • 0029950717 scopus 로고    scopus 로고
    • A sensitive mutation screening strategy for Fabry disease: Detection of nine mutations in the alpha-galactosidase A gene
    • Blanch LC, Meaney C, Morris CP. A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene. Hum Mutat 1996; 8: 38-43.
    • (1996) Hum Mutat , vol.8 , pp. 38-43
    • Blanch, L.C.1    Meaney, C.2    Morris, C.P.3
  • 18
    • 0030926514 scopus 로고    scopus 로고
    • Fabry disease: Thirty-five mutations in the α-galactosidase A gene in patients with classic and variant phenotypes
    • Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, Desnick RJ. Fabry disease: thirty-five mutations in the α-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 1997; 3: 174-82.
    • (1997) Mol Med , vol.3 , pp. 174-182
    • Eng, C.M.1    Ashley, G.A.2    Burgert, T.S.3    Enriquez, A.L.4    D'Souza, M.5    Desnick, R.J.6
  • 19
    • 0036384318 scopus 로고    scopus 로고
    • Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype
    • Shabbeer J, Yasuda M, Luca E, Desnick RJ. Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype. Mol Genet Metab 2002; 76: 23-30.
    • (2002) Mol Genet Metab , vol.76 , pp. 23-30
    • Shabbeer, J.1    Yasuda, M.2    Luca, E.3    Desnick, R.J.4
  • 20
    • 12244287665 scopus 로고    scopus 로고
    • Clinical features and genetic analysis of a Chinese kindred with Fabry's disease
    • Tse KC, Chan KW, Tin VP, Yip PS, Tang S, Li FK, et al. Clinical features and genetic analysis of a Chinese kindred with Fabry's disease. Nephrol Dial Transplant 2003; 18: 182-6.
    • (2003) Nephrol Dial Transplant , vol.18 , pp. 182-186
    • Tse, K.C.1    Chan, K.W.2    Tin, V.P.3    Yip, P.S.4    Tang, S.5    Li, F.K.6
  • 21
    • 24344440871 scopus 로고    scopus 로고
    • Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene
    • Garzuly F, Marodi L, Erdos M, Grubits J, Varga Z, Gelpi E, et al. Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene. Brain 2005; 128: 2078-83.
    • (2005) Brain , vol.128 , pp. 2078-2083
    • Garzuly, F.1    Marodi, L.2    Erdos, M.3    Grubits, J.4    Varga, Z.5    Gelpi, E.6
  • 22
    • 6344231519 scopus 로고    scopus 로고
    • Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy
    • Teragaki M, Tanaka A, Akioka K, Lan HT, Nishi Y, Yamano T, et al. Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy. Jpn Heart J 2004; 45: 685-9.
    • (2004) Jpn Heart J , vol.45 , pp. 685-689
    • Teragaki, M.1    Tanaka, A.2    Akioka, K.3    Lan, H.T.4    Nishi, Y.5    Yamano, T.6
  • 23
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333: 288-93.
    • (1995) N Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3    Kodama, C.4    Tanaka, A.5    Tahara, M.6
  • 24
    • 0028951920 scopus 로고
    • Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease
    • Madsen KM, Hasholt L, Sorensen SA, Fermer ML, Dahl N. Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease. Hum Mutat 1995; 5: 277-8.
    • (1995) Hum Mutat , vol.5 , pp. 277-278
    • Madsen, K.M.1    Hasholt, L.2    Sorensen, S.A.3    Fermer, M.L.4    Dahl, N.5
  • 26
    • 0028293314 scopus 로고
    • Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease
    • Davies J, Christomanou H, Winchester B, Malcolm S. Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease. Hum Mol Genet 1994; 3: 667-9.
    • (1994) Hum Mol Genet , vol.3 , pp. 667-669
    • Davies, J.1    Christomanou, H.2    Winchester, B.3    Malcolm, S.4
  • 27
    • 0025090042 scopus 로고
    • A case of Fabry's disease in a patient with no α-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser
    • Koide T, Ishiura M, Iwai K, Inoue M, Kaneda Y, Okada Y, et al. A case of Fabry's disease in a patient with no α-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. FEBS Lett 1990; 259: 353-6.
    • (1990) FEBS Lett , vol.259 , pp. 353-356
    • Koide, T.1    Ishiura, M.2    Iwai, K.3    Inoue, M.4    Kaneda, Y.5    Okada, Y.6
  • 28
    • 0033786533 scopus 로고    scopus 로고
    • Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes
    • Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 2000; 48: 227-35.
    • (2000) J Investig Med , vol.48 , pp. 227-235
    • Ashton-Prolla, P.1    Tong, B.2    Shabbeer, J.3    Astrin, K.H.4    Eng, C.M.5    Desnick, R.J.6
  • 29
    • 0029834345 scopus 로고    scopus 로고
    • Fabry disease: Fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries
    • Davies JP, Eng CM, Hill JA, Malcolm S, MacDermot K, Winchester B, et al. Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. Eur J Hum Genet 1996; 4: 219-24.
    • (1996) Eur J Hum Genet , vol.4 , pp. 219-224
    • Davies, J.P.1    Eng, C.M.2    Hill, J.A.3    Malcolm, S.4    MacDermot, K.5    Winchester, B.6
  • 30
    • 7444265245 scopus 로고    scopus 로고
    • A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease
    • Rosenthal D, Lien YH, Lager D, Lai LW, Shang S, Leung N, et al. A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease. Am J Kidney Dis 2004; 44: e85-9.
    • (2004) Am J Kidney Dis , vol.44
    • Rosenthal, D.1    Lien, Y.H.2    Lager, D.3    Lai, L.W.4    Shang, S.5    Leung, N.6
  • 32
    • 0036389567 scopus 로고    scopus 로고
    • Fabry disease: Twenty novel α-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes
    • Germain DP, Shabbeer J, Cotigny S, Desnick RJ. Fabry disease: twenty novel α-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Mol Med 2002; 8: 306-12.
    • (2002) Mol Med , vol.8 , pp. 306-312
    • Germain, D.P.1    Shabbeer, J.2    Cotigny, S.3    Desnick, R.J.4
  • 33
    • 0025064445 scopus 로고
    • Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease
    • Sakuraba H, Oshima A, Fukuhara Y, Shimmoto M, Nagao Y, Bishop DF, et al. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet 1990; 47: 784-9.
    • (1990) Am J Hum Genet , vol.47 , pp. 784-789
    • Sakuraba, H.1    Oshima, A.2    Fukuhara, Y.3    Shimmoto, M.4    Nagao, Y.5    Bishop, D.F.6
  • 35
    • 0035512096 scopus 로고    scopus 로고
    • Fabry disease: 20 novel GLA mutations in 35 families
    • Blaydon D, Hill J, Winchester B. Fabry disease: 20 novel GLA mutations in 35 families. Hum Mutat 2001; 18: 459.
    • (2001) Hum Mutat , vol.18 , pp. 459
    • Blaydon, D.1    Hill, J.2    Winchester, B.3
  • 37
    • 0142093091 scopus 로고    scopus 로고
    • Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female
    • Rodriguez-Mari A, Coll MJ, Chabas A. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat 2003; 22: 258.
    • (2003) Hum Mutat , vol.22 , pp. 258
    • Rodriguez-Mari, A.1    Coll, M.J.2    Chabas, A.3
  • 38
    • 0035035316 scopus 로고    scopus 로고
    • Fabry disease: Twenty novel alpha-galactosidase A mutations causing the classical phenotype
    • Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. J Hum Genet 2001; 46: 192-6.
    • (2001) J Hum Genet , vol.46 , pp. 192-196
    • Ashley, G.A.1    Shabbeer, J.2    Yasuda, M.3    Eng, C.M.4    Desnick, R.J.5
  • 39
    • 0028102484 scopus 로고
    • Fabry disease: Twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene
    • Eng CM, Niehaus DJ, Enriquez AL, Burgert TS, Ludman MD, Desnick RJ. Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene. Hum Mol Genet 1994; 3: 1795-9.
    • (1994) Hum Mol Genet , vol.3 , pp. 1795-1799
    • Eng, C.M.1    Niehaus, D.J.2    Enriquez, A.L.3    Burgert, T.S.4    Ludman, M.D.5    Desnick, R.J.6
  • 41
    • 14944348732 scopus 로고    scopus 로고
    • Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography
    • Shabbeer J, Robinson M, Desnick RJ. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Hum Mutat 2005; 25: 299-305.
    • (2005) Hum Mutat , vol.25 , pp. 299-305
    • Shabbeer, J.1    Robinson, M.2    Desnick, R.J.3
  • 43
    • 0031967760 scopus 로고    scopus 로고
    • Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online
    • Chen CH, Shyu PW, Wu SJ, Sheu SS, Desnick RJ, Hsiao KJ. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online. Hum Mutat 1998; 11: 328-30.
    • (1998) Hum Mutat , vol.11 , pp. 328-330
    • Chen, C.H.1    Shyu, P.W.2    Wu, S.J.3    Sheu, S.S.4    Desnick, R.J.5    Hsiao, K.J.6
  • 44
    • 0042131801 scopus 로고    scopus 로고
    • Analysis of splice-site mutations of the α-galactosidase A gene in Fabry disease
    • Lai LW, Whitehair O, Wu MJ, O'Meara M, Lien YH. Analysis of splice-site mutations of the α-galactosidase A gene in Fabry disease. Clin Genet 2003; 63: 476-82.
    • (2003) Clin Genet , vol.63 , pp. 476-482
    • Lai, L.W.1    Whitehair, O.2    Wu, M.J.3    O'Meara, M.4    Lien, Y.H.5
  • 45
    • 0026506110 scopus 로고
    • Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease
    • Ishii S, Sakuraba H, Suzuki Y. Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 1992; 89: 29-32.
    • (1992) Hum Genet , vol.89 , pp. 29-32
    • Ishii, S.1    Sakuraba, H.2    Suzuki, Y.3
  • 46
    • 0031975248 scopus 로고    scopus 로고
    • Novel missense mutation (M72V) of α-galactosidase gene and its expression product in an atypical Fabry hemizygote
    • Okumiya T, Kawamura O, Itoh K, Kase R, Ishii S, Kamei S, et al. Novel missense mutation (M72V) of α-galactosidase gene and its expression product in an atypical Fabry hemizygote. Hum Mutat 1998; Suppl 1: S213-16.
    • (1998) Hum Mutat , Issue.SUPPL. 1
    • Okumiya, T.1    Kawamura, O.2    Itoh, K.3    Kase, R.4    Ishii, S.5    Kamei, S.6
  • 48
    • 0031963917 scopus 로고    scopus 로고
    • Mutation analysis in 11 French patients with Fabry disease
    • Guffon N, Froissart R, Chevalier-Porst F, Maire I. Mutation analysis in 11 French patients with Fabry disease. Hum Mutat 1998; Suppl 1: S288-90.
    • (1998) Hum Mutat , Issue.SUPPL. 1
    • Guffon, N.1    Froissart, R.2    Chevalier-Porst, F.3    Maire, I.4
  • 49
    • 0030936819 scopus 로고    scopus 로고
    • Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis
    • Takata T, Okumiya T, Hayashibe H, Shimmoto M, Kase R, Itoh K, et al. Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis. Brain Dev 1997; 19: 111-6.
    • (1997) Brain Dev , vol.19 , pp. 111-116
    • Takata, T.1    Okumiya, T.2    Hayashibe, H.3    Shimmoto, M.4    Kase, R.5    Itoh, K.6
  • 50
    • 0033810375 scopus 로고    scopus 로고
    • Identification of four novel mutations in five unrelated Korean families with Fabry disease
    • Lee JK, Kim GH, Kim JS, Kim KK, Lee MC, Yoo HW. Identification of four novel mutations in five unrelated Korean families with Fabry disease. Clin Genet 2000; 58: 228-33.
    • (2000) Clin Genet , vol.58 , pp. 228-233
    • Lee, J.K.1    Kim, G.H.2    Kim, J.S.3    Kim, K.K.4    Lee, M.C.5    Yoo, H.W.6
  • 51
    • 23844484627 scopus 로고    scopus 로고
    • Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population
    • Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, et al. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med 2005; 83: 647-54.
    • (2005) J Mol Med , vol.83 , pp. 647-654
    • Dobrovolny, R.1    Dvorakova, L.2    Ledvinova, J.3    Magage, S.4    Bultas, J.5    Lubanda, J.C.6
  • 52
    • 18544362067 scopus 로고    scopus 로고
    • A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical Fabry disease with cardiac manifestations
    • Kimura K, Sato-Matsumura KC, Nakamura H, Onodera Y, Morita K, Enami N, et al. A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical Fabry disease with cardiac manifestations. Br J Dermatol 2002; 147: 545-8.
    • (2002) Br J Dermatol , vol.147 , pp. 545-548
    • Kimura, K.1    Sato-Matsumura, K.C.2    Nakamura, H.3    Onodera, Y.4    Morita, K.5    Enami, N.6
  • 55
    • 0028990407 scopus 로고
    • α-Galactosidase gene mutations in Fabry disease: Heterogeneous expressions of mutant enzyme proteins
    • Okumiya T, Ishii S, Kase R, Kamei S, Sakuraba H, Suzuki Y. α-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins. Hum Genet 1995; 95: 557-61.
    • (1995) Hum Genet , vol.95 , pp. 557-561
    • Okumiya, T.1    Ishii, S.2    Kase, R.3    Kamei, S.4    Sakuraba, H.5    Suzuki, Y.6
  • 57
    • 0028269904 scopus 로고
    • Molecular basis of Fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene
    • Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human α-galactosidase A gene. Hum Mutat 1994; 3: 103-11.
    • (1994) Hum Mutat , vol.3 , pp. 103-111
    • Eng, C.M.1    Desnick, R.J.2
  • 58
    • 0029958105 scopus 로고    scopus 로고
    • Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease
    • Germain D, Biasotto M, Tosi M, Meo T, Kahn A, Poenaru L. Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease. Hum Genet 1996; 98: 719-26.
    • (1996) Hum Genet , vol.98 , pp. 719-726
    • Germain, D.1    Biasotto, M.2    Tosi, M.3    Meo, T.4    Kahn, A.5    Poenaru, L.6
  • 60
    • 0142155621 scopus 로고    scopus 로고
    • Fabry disease: Molecular studies in Italian patients and X inactivation analysis in manifesting carriers
    • Morrone A, Cavicchi C, Bardelli T, Antuzzi D, Parini R, Di Rocco M, et al. Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet 2003; 40: e103.
    • (2003) J Med Genet , vol.40
    • Morrone, A.1    Cavicchi, C.2    Bardelli, T.3    Antuzzi, D.4    Parini, R.5    Di Rocco, M.6
  • 61
    • 33947582440 scopus 로고    scopus 로고
    • Yasuda M, Shabbeer J, Benson SD, Desnick RJ. Fabry disease: identification/characterization of novel double mutations in the α-galactosidase A gene. ASHG Annual Meeting Abstracts 2002; 926.
    • Yasuda M, Shabbeer J, Benson SD, Desnick RJ. Fabry disease: identification/characterization of novel double mutations in the α-galactosidase A gene. ASHG Annual Meeting Abstracts 2002; 926.
  • 63
    • 0027201108 scopus 로고
    • Mutation analysis in patients with the typical form of Anderson-Fabry disease
    • Davies JP, Winchester BG, Malcolm S. Mutation analysis in patients with the typical form of Anderson-Fabry disease. Hum Mol Genet 1993; 2: 1051-3.
    • (1993) Hum Mol Genet , vol.2 , pp. 1051-1053
    • Davies, J.P.1    Winchester, B.G.2    Malcolm, S.3
  • 64
    • 0028292423 scopus 로고
    • A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease
    • Meaney C, Blanch LC, Morris CP. A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease. Hum Mol Genet 1994; 3: 1019-20.
    • (1994) Hum Mol Genet , vol.3 , pp. 1019-1020
    • Meaney, C.1    Blanch, L.C.2    Morris, C.P.3
  • 65
    • 0042131867 scopus 로고    scopus 로고
    • Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease
    • Yang CC, Lai LW, Whitehair O, Hwu WL, Chiang SC, Lien YH. Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease. Clin Genet 2003; 63: 205-9.
    • (2003) Clin Genet , vol.63 , pp. 205-209
    • Yang, C.C.1    Lai, L.W.2    Whitehair, O.3    Hwu, W.L.4    Chiang, S.C.5    Lien, Y.H.6
  • 66
    • 0033590939 scopus 로고    scopus 로고
    • Fabry disease: Identification of novel α-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches
    • Germain DP, Poenaru L. Fabry disease: identification of novel α-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. Biochem Biophys Res Commun 1999; 257: 708-13.
    • (1999) Biochem Biophys Res Commun , vol.257 , pp. 708-713
    • Germain, D.P.1    Poenaru, L.2
  • 68
    • 19244364584 scopus 로고    scopus 로고
    • Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the α-galactosidase A gene
    • Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the α-galactosidase A gene. J Med Genet 1996; 33: 682-8.
    • (1996) J Med Genet , vol.33 , pp. 682-688
    • Redonnet-Vernhet, I.1    Ploos van Amstel, J.K.2    Jansen, R.P.3    Wevers, R.A.4    Salvayre, R.5    Levade, T.6
  • 69
    • 0034924174 scopus 로고    scopus 로고
    • Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
    • Altarescu GM, Goldfarb LG, Park KY, Kaneski C, Jeffries N, Litvak S, et al. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 2001; 60: 46-51.
    • (2001) Clin Genet , vol.60 , pp. 46-51
    • Altarescu, G.M.1    Goldfarb, L.G.2    Park, K.Y.3    Kaneski, C.4    Jeffries, N.5    Litvak, S.6
  • 71
    • 33947607607 scopus 로고    scopus 로고
    • Azibi K, Caillaud C, Manicom J, Puech JP, Kahn A, Poenaru L. Fabry disease: identification of ten novel mutations. ASHG Annual Meeting Abstracts 2001; 2647.
    • Azibi K, Caillaud C, Manicom J, Puech JP, Kahn A, Poenaru L. Fabry disease: identification of ten novel mutations. ASHG Annual Meeting Abstracts 2001; 2647.
  • 72
    • 4444253119 scopus 로고    scopus 로고
    • Remarkable variability in renal disease in a large Slovenian family with Fabry disease
    • Verovnik F, Benko D, Vujkovac B, Linthorst GE. Remarkable variability in renal disease in a large Slovenian family with Fabry disease. Eur J Hum Genet 2004; 12: 678-81.
    • (2004) Eur J Hum Genet , vol.12 , pp. 678-681
    • Verovnik, F.1    Benko, D.2    Vujkovac, B.3    Linthorst, G.E.4
  • 73
    • 4344575804 scopus 로고    scopus 로고
    • Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein
    • Dominissini S, Cariati R, Nevyjel M, Guerci V, Ciana G, Bembi B, et al. Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein. Hum Hered 2004; 57: 138-41.
    • (2004) Hum Hered , vol.57 , pp. 138-141
    • Dominissini, S.1    Cariati, R.2    Nevyjel, M.3    Guerci, V.4    Ciana, G.5    Bembi, B.6
  • 75
    • 0345732648 scopus 로고    scopus 로고
    • Fabry disease: Characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele
    • Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat 2003; 22: 486-92.
    • (2003) Hum Mutat , vol.22 , pp. 486-492
    • Yasuda, M.1    Shabbeer, J.2    Benson, S.D.3    Maire, I.4    Burnett, R.M.5    Desnick, R.J.6
  • 76
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105: 1407-11.
    • (2002) Circulation , vol.105 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchi, H.3    Tei, C.4    Lee, P.5    McKenna, W.J.6
  • 78
    • 33947578942 scopus 로고    scopus 로고
    • Azibi K, Caillaud C, Heltianu C, Dussau J, Poenaru L. Novel mutations and genetic markers of Fabry disease. ASHG Annual Meeting Abstracts 2002; 2170.
    • Azibi K, Caillaud C, Heltianu C, Dussau J, Poenaru L. Novel mutations and genetic markers of Fabry disease. ASHG Annual Meeting Abstracts 2002; 2170.
  • 79
    • 0024567064 scopus 로고
    • Fabry disease: Six gene rearrangements and an exonic point mutation in the α-galactosidase gene
    • Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, et al. Fabry disease: six gene rearrangements and an exonic point mutation in the α-galactosidase gene. J Clin Invest 1989; 83: 1390-9.
    • (1989) J Clin Invest , vol.83 , pp. 1390-1399
    • Bernstein, H.S.1    Bishop, D.F.2    Astrin, K.H.3    Kornreich, R.4    Eng, C.M.5    Sakuraba, H.6
  • 80
    • 0031965105 scopus 로고    scopus 로고
    • A novel mutation (E358K) in the α-galactosidase A gene detected in a Japanese family with Fabry disease
    • Miyazaki T, Kajita M, Ohmori S, Mizutani N, Niwa T, Murata Y, et al. A novel mutation (E358K) in the α-galactosidase A gene detected in a Japanese family with Fabry disease. Hum Mutat 1998; Suppl 1: S139-40.
    • (1998) Hum Mutat , Issue.SUPPL. 1
    • Miyazaki, T.1    Kajita, M.2    Ohmori, S.3    Mizutani, N.4    Niwa, T.5    Murata, Y.6
  • 81
    • 10244224048 scopus 로고    scopus 로고
    • A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted
    • Miyamura N, Araki E, Matsuda K, Yoshimura R, Furukawa N, Tsuruzoe K, et al. A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted. J Clin Invest 1996; 98: 1809-17.
    • (1996) J Clin Invest , vol.98 , pp. 1809-1817
    • Miyamura, N.1    Araki, E.2    Matsuda, K.3    Yoshimura, R.4    Furukawa, N.5    Tsuruzoe, K.6
  • 82
    • 17544392970 scopus 로고    scopus 로고
    • Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene (GLA) in a patient affected with Fabry disease
    • Germain DP, Salard D, Fellmann F, Azibi K, Caillaud C, Bernard MC, et al. Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene (GLA) in a patient affected with Fabry disease. Hum Mutat 2001; 17: 353.
    • (2001) Hum Mutat , vol.17 , pp. 353
    • Germain, D.P.1    Salard, D.2    Fellmann, F.3    Azibi, K.4    Caillaud, C.5    Bernard, M.C.6
  • 83
    • 33947595617 scopus 로고    scopus 로고
    • Shin YS, Podskarbi T. A novel mutation of the α-galactosidase A gene in a family with juvenile-onset form of Fabry disease. ASHG Annual Meeting Abstracts 2001; 1799.
    • Shin YS, Podskarbi T. A novel mutation of the α-galactosidase A gene in a family with juvenile-onset form of Fabry disease. ASHG Annual Meeting Abstracts 2001; 1799.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.