[Separation by electrofocusing of the molecular forms of splenic beta-glucosidase in normal subjects and Gaucher's disease].
Electrofocusing allows to separate the beta-glucosidases from normal spleen in several molecular forms: a non specific beta-glucosidase form (pl 4.6) and two forms of beta-glucocerebrosidase (pl 5.0 and pl 6.5). beta-glucosidase and beta-glucocerbrosidase differ with regard to their thermal stability. In a spleen from a patient with non neuronopathis Gaucher's disease (type I or adult form), molecular whereas the non specific beta-glucosidase is not significantly decreased. Thus, the beta-glucocerebrosidase forms and the non specific beta-glucosidase are not coded by the same gene. The separation of molecular forms of beta-glucosidase allows to measure the part of specific beta-glucosidase activity in the assay of beta-glucocerebrosidase by artificial substrate, 4-methylumbeliferyl-beta-D-glucopyranoside.
D005776:Gaucher Disease / Q000201:enzymology*; D005959:Glucosidases / Q000302:isolation & purification*; D006801:Humans; D007525:Isoelectric Focusing / Q000379:methods; D007527:Isoenzymes / Q000302:isolation & purification; D013154:Spleen / Q000201:enzymology*; D001617:beta-Glucosidase / Q000302:isolation & purification*
D007527:Isoenzymes; D005959:Glucosidases; D001617:beta-Glucosidase
Séparation par électrofocalisation des formes moléculaires de la bâta-glucosidase splénique chez le sujet normal et au cours de la maladie de Gaucher.