Showing papers by "Yutaka Suzuki published in 1984"

GM1-Gangliosidosis; a molecular abnormality of acid β-galactosidase in fibroblasts

Abstract: G~l-Gangliosidosis is an inherited lysosomal disease with a deficiency of acid ~-gatactosidase activity causing generalized accumulation of ganglioside GM~ in somatic cells (Okada and O'Brien, 1968). The molecular structure of [3-galactosidase A was reported to be altered in this disease since liver samples from patients contained more than normal quantities of cross-reacting materials to antinormal liver [3-galactosidase A antibodies (Meisler and Rattazzi, 1974; O'Brien, 1975; BenYoseph et al., 1977). Recently, acid [3-galactosidase from human placenta was found to have highly reactive sulphydryl groups in the molecule closely associated with the enzyme activity (Furuya et al., unpublished data). Subsequently, a purification procedure was developed with Hg-agarose affinity chromatography utilizing a specific affinity to sulphydryl groups of this enzyme molecule. In this report acid J3-galactosidase was studied in GM1gangliosidosis fibroblasts with regard to -SH specificity for the investigation of molecular abnormality in this disease.