메뉴 건너뛰기




Volumn 24, Issue 1-2, 2006, Pages 129-136

Structural studies on α-GAL and α-NAGAL: The atomic basis of Fabry and Schindler diseases

Author keywords

E.C. 3.2.1.22; E.C. 3.2.1.49; Fabry disease; Glycosidases; Lysosomal storage diseases; Schindler disease

Indexed keywords

CARBOHYDRATES; DEGRADATION; ENZYMES; SUBSTRATES;

EID: 33646849928     PISSN: 10242422     EISSN: 10292446     Source Type: Journal    
DOI: 10.1080/10242420600598194     Document Type: Article
Times cited : (9)

References (27)
  • 1
    • 0014216741 scopus 로고
    • Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency
    • Brady, RO and Gal, AE and Bradley, RM and Martensson, E and Warshaw, AL and Laster, L. (1967) Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency N Engl J Med, 276, pp. 1163-1167.
    • (1967) N Engl J Med , vol.276 , pp. 1163-1167
    • Laster, L.1
  • 2
    • 0029645404 scopus 로고
    • Structures and mechanisms of glycosyl hydrolases
    • Davies, G and Henrissat, B. (1995) Structures and mechanisms of glycosyl hydrolases Structure, 3, pp. 853-859.
    • (1995) Structure , vol.3 , pp. 853-859
    • Davies, G.1    Henrissat, B.2
  • 6
    • 34447607076 scopus 로고
    • Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis
    • Fabry, J. (1898) Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Habrae) Arch Dermatol Syph, 43, pp. 187.
    • (1898) Arch Dermatol Syph , vol.43 , pp. 187
    • Fabry, J.1
  • 7
    • 0033018496 scopus 로고    scopus 로고
    • Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
    • Fan, JQ and Ishii, S and Asano, N and Suzuki, Y. (1999) Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor Nat Med, 5, pp. 112-115.
    • (1999) Nat Med , vol.5 , pp. 112-115
    • Fan, J.Q.1    Ishii, S.2    Asano, N.3    Suzuki, Y.4
  • 8
    • 0035811674 scopus 로고    scopus 로고
    • Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy
    • Frustaci, A and Chimenti, C and Ricci, R and Natale, L and Russo, MA and Pieroni, M and Eng, CM and Desnick, RJ. (2001) Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy N Engl J Med, 345, pp. 25-32.
    • (2001) N Engl J Med , vol.345 , pp. 25-32
    • Frustaci, A.1    Chimenti, C.2    Ricci, R.3    Natale, L.4    Russo, M.A.5    Pieroni, M.6    Eng, C.M.7    Desnick, R.J.8
  • 9
    • 0037827688 scopus 로고    scopus 로고
    • Crystal structure of rice α-galactosidase complexed with d-galactose
    • Fujimoto, Z and Kaneko, S and Momma, M and Kobayashi, H and Mizuno, H. (2003) Crystal structure of rice α-galactosidase complexed with d-galactose J Biol Chem, 278, pp. 20313-20318.
    • (2003) J Biol Chem , vol.278 , pp. 20313-20318
    • Fujimoto, Z.1    Kaneko, S.2    Momma, M.3    Kobayashi, H.4    Mizuno, H.5
  • 10
    • 0036395059 scopus 로고    scopus 로고
    • Structural basis of Fabry disease
    • Garman, SC and Garboczi, DN. (2002) Structural basis of Fabry disease Mol Genet Metab, 77, pp. 3-11.
    • (2002) Mol Genet Metab , vol.77 , pp. 3-11
    • Garman, S.C.1    Garboczi, D.N.2
  • 11
    • 1442299241 scopus 로고    scopus 로고
    • The molecular defect leading to Fabry disease: Structure of human α-galactosidase
    • Garman, SC and Garboczi, DN. (2004) The molecular defect leading to Fabry disease: Structure of human α-galactosidase J Mol Biol, 337, pp. 319-335.
    • (2004) J Mol Biol , vol.337 , pp. 319-335
    • Garman, S.C.1    Garboczi, D.N.2
  • 12
    • 0036124422 scopus 로고    scopus 로고
    • The 1.9 Å structure of α-N-acetylgalactosaminidase: Molecular basis of glycosidase deficiency diseases
    • Garman, SC and Hannick, L and Zhu, A and Garboczi, DN. (2002) The 1.9 Å structure of α-N-acetylgalactosaminidase: Molecular basis of glycosidase deficiency diseases Structure, 10, pp. 425-434.
    • (2002) Structure , vol.10 , pp. 425-434
    • Garman, S.C.1    Hannick, L.2    Zhu, A.3    Garboczi, D.N.4
  • 15
    • 0024551274 scopus 로고
    • Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum
    • Kanzaki, T and Yokota, M and Mizuno, N and Matsumoto, Y and Hirabayashi, Y. (1989) Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum Lancet, 1, pp. 875-877.
    • (1989) Lancet , vol.1 , pp. 875-877
    • Kanzaki, T.1    Yokota, M.2    Mizuno, N.3    Matsumoto, Y.4    Hirabayashi, Y.5
  • 16
    • 84979146389 scopus 로고
    • Stereochemistry and the mechanism of enzymatic reactions
    • Koshland, DE. (1953) Stereochemistry and the mechanism of enzymatic reactions Biol Rev Cambridge Philos Soc, 28, pp. 416-436.
    • (1953) Biol Rev Cambridge Philos Soc , vol.28 , pp. 416-436
    • Koshland, D.E.1
  • 20
    • 0037453003 scopus 로고    scopus 로고
    • Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer
    • Park, J and Murray, GJ and Limaye, A and Quirk, JM and Gelderman, MP and Brady, RO and Qasba, P. (2003) Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer Proc Natl Acad Sci USA, 100, pp. 3450-3454.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 3450-3454
    • Park, J.1    Murray, G.J.2    Limaye, A.3    Quirk, J.M.4    Gelderman, M.P.5    Brady, R.O.6    Qasba, P.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.