67
Views
6
CrossRef citations to date
0
Altmetric
ORIGINAL ARTICLE

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

Pages 129-136 | Received 24 May 2005, Published online: 11 Jul 2009

References

  • Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276: 1163–1167
  • Davies G, Henrissat B. Structures and mechanisms of glycosyl hydrolases. Structure 1995; 3: 853–859
  • Desnick, RJ, Ioannou, YA, Eng, CM. 2001. α-Galactosidase A Deficiency: Fabry Disease. In: CR Scriver, Beaudet, AL, Sly, WS, Valle, D, editors. New York: McGraw-Hill. p 3733–3774.
  • Desnick RJ, Schindler D. α-N-Acetylgalactosaminidase Deficiency: Schindler Disease. The Metabolic and Molecular Bases of Inherited Disease, C R Scriver, AL Beaudet, WS Sly, D Valle. McGraw-Hill, New York 2001; 3483–3505
  • Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ. Safety and efficacy of recombinant human α-galactosidase A—replacement therapy in Fabry's disease. N Engl J Med 2001; 345: 9–16
  • Fabry J. Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Habrae). Arch Dermatol Syph 1898; 43: 187
  • Fan JQ, Ishii S, Asano N, Suzuki Y. Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med 1999; 5: 112–115
  • Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 2001; 345: 25–32
  • Fujimoto Z, Kaneko S, Momma M, Kobayashi H, Mizuno H. Crystal structure of rice α-galactosidase complexed with d-galactose. J Biol Chem 2003; 278: 20313–20318
  • Garman SC, Garboczi DN. Structural basis of Fabry disease. Mol Genet Metab 2002; 77: 3–11
  • Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human α-galactosidase. J Mol Biol 2004; 337: 319–335
  • Garman SC, Hannick L, Zhu A, Garboczi DN. The 1.9 Å structure of α-N-acetylgalactosaminidase: molecular basis of glycosidase deficiency diseases. Structure 2002; 10: 425–434
  • Golubev AM, Nagem RA, Brandao Neto JR, Neustroev KN, Eneyskaya EV, Kulminskaya AA, Shabalin KA, Savel'ev AN, Polikarpov I. Crystal structure of alpha-galactosidase from Trichoderma reesei and its complex with galactose: implications for catalytic mechanism. J Mol Biol 2004; 339: 413–422
  • Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M, Gal A, Beck M. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 2002; 40: 1668–1674
  • Kanzaki T, Yokota M, Mizuno N, Matsumoto Y, Hirabayashi Y. Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. Lancet 1989; 1: 875–877
  • Koshland DE. Stereochemistry and the mechanism of enzymatic reactions. Biol Rev Cambridge Philos Soc 1953; 28: 416–436
  • Lee K, Jin X, Zhang K, Copertino L, Andrews L, Baker-Malcolm J, Geagan L, Qiu H, Seiger K, Barngrover D, McPherson JM, Edmunds T. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 2003; 13: 305–313
  • Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Takimoto K, Itoh M, Matsuzaki Y, Yasuda Y, Ogawa S, Sakata Y, Nanba E, Higaki K, Ogawa Y, Tominaga L, Ohno K, Iwasaki H, Watanabe H, Brady RO, Suzuki Y. Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc Natl Acad Sci USA 2003; 100: 15912–15917
  • Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333: 288–293
  • Park J, Murray GJ, Limaye A, Quirk JM, Gelderman MP, Brady RO, Qasba P. Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer. Proc Natl Acad Sci USA 2003; 100: 3450–3454
  • Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R. Pediatric Fabry disease. Pediatrics 2005; 115: 344–355
  • Rye CS, Withers SG. Glycosidase mechanisms. Curr Opin Chem Biol 2000; 4: 573–580
  • Schiffmann, R, Kopp, JB, Austin, HA, 3rd, Sabnis, S, Moore, DF, Weibel, T, Balow, JE, Brady, RO. 2001. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA, 285:2743–2749.
  • Schindler D, Bishop DF, Wolfe DE, Wang AM, Egge H, Lemieux RU, Desnick RJ. Neuroaxonal dystrophy due to lysosomal α-N-acetylgalactosaminidase deficiency. N Engl J Med 1989; 320: 1735–1740
  • van Diggelen OP, Schindler D, Kleijer WJ, Huijmans JM, Galjaard H, Linden HU, Peter-Katalinic J, Egge H, Dabrowski U, Cantz M. Lysosomal α-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease. Lancet 1987; 2: 804
  • van Diggelen OP, Schindler D, Willemsen R, Boer M, Kleijer WJ, Huijmans JG, Blom W, Galjaard H. α-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder. J Inherit Metab Dis 1988; 11: 349–357
  • Vasella A, Davies GJ, Bohm M. Glycosidase mechanisms. Curr Opin Chem Biol 2002; 6: 619–629

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.