Modification of subunit interaction in membrane‐bound acid β‐glucosidase from Gaucher disease

FEBS Letters

Potier, Michel¹  Maret, Arlette²  Salvayre, Robert²  Douste-Blazy, Louis² 

[1] Section de Génétique Médicale, Hôpital Sainte-Justine, Université de Montréal, Québec H3T 1C5, Canada;Laboratoire de Biochimie Médicale, Faculté de Médecine, INSERM 101, Biochimie des Lipides, CHR Purpan, 31059 Toulouse Cedex France

关键词: Radiation inactivation method;    Membrane-bound acid β-glucosidase;    Gaucher disease;    NBD;    12-[N-methyl-N-(7-nitrobenz-2-oxa-1;    3-diazol-4-yl)] aminododecanoic acid;    MU;    4-methylumbelliferyl;   

DOI  :  10.1016/0014-5793(83)80943-0

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

The radiation inactivation method has been used to determine the molecular mass of membrane-bound acid β-glucosidase (EC 3.2.1.21) in situ, in normal human spleen and in that of two patients with type I Gaucher disease: the molecular mass in Gaucher spleen is about double (125 000 ± 8900) of that found in the normal spleen (67 000 ± 7700) which is compatible with the existence of subunit coupling in the muted acid β-glucosidase. From the results, we conclude that subunit interaction is altered in mutant acid β-glucosidase and that this may be due to a direct effect of the mutation.

【 授权许可】

Unknown