Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse.
Brain Dev
; 23(5): 284-7, 2001 Aug.
Article
em En
| MEDLINE
| ID: mdl-11504597
Ten low molecular compounds analogous to galactose were screened for inhibition of human beta-galactosidase activity. Among them, 1-deoxy-galactonojirimycin and N-(n-butyl)-deoxy-galactonojirimycin showed an inhibitory effect at high concentrations. However, they restored mutant enzyme activities expressed in enzyme-deficient knockout mouse fibroblasts and human beta-galactosidosis fibroblasts at lower intracellular concentrations. This effect was more remarkable on G(M1)-gangliosidosis mutations (R201C, I51T, R201H, R457Q) than Morquio B disease mutations (W273L, Y83H). These low molecular compounds pass though the blood-brain barrier in mice. We hope that this new therapeutic approach will become clinically applicable in the near future.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Células Cultivadas
/
Gangliosidose GM1
/
Beta-Galactosidase
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Mucopolissacaridose IV
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1-Desoxinojirimicina
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Fibroblastos
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Brain Dev
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Japão
País de publicação:
Holanda