caa a22 4500 467951632 CHVBK 20180323165702.0 cr unu---uuuuu 170328e19881201xx s 000 0 eng 10.1007/BF02395519 doi (NATIONALLICENCE)springer-10.1007/BF02395519 (NATIONALLICENCE)springer-10.1007/BF00553872 β -galactosidase activity in fibroblasts and tissues from sheep with a lysosomal storage disease [Elektronische Daten] [Amelia Ahern-Rindell, Robert Murnane, David Prieur] Tissues and fibroblasts of sheep affected with an inherited, neuronal lysosomal storage disease expressed a deficiency of β-galactosidase activity. Cerebrum, kidney, lung, spinal cord, and spleen from affected sheep had less than 8% of the β-galactosidase activity present in the respective tissues of normal sheep. No evidence for the presence of an endogenous inhibitor in affected sheep was detected by mixing studies. Liver of affected sheep expressed a deficiency of β-galactosidase activity only in the presence of the β-d-glycosidase inhibitors, glucono-δ-lactone and 2,5-dihydroxymethyl-3,4-dihydroxypyrrolidine. In these studies, we demonstrated the existence of tissue-specific β-galactosidases in sheep and showed that the affected sheep have a deficiency of the lysosomal β-galactosidase. Our results suggest that the high residual β-galactosidase activity in liver of affected sheep can be attributed to a nonlysosomal β-galactosidase that has a neutralpH optimum and may be under temporal regulation. Plenum Publishing Corporation, 1988 lysosomal storage disease nationallicence β-galactosidase nationallicence tissue-specific enzymes nationallicence sheep nationallicence animal model nationallicence Ahern-Rindell Amelia Department of Veterinary Microbiology and Pathology and Program in Genetics and Cell Biology, Washington State University, 99164-7040, Pullman, Washington aut Murnane Robert Department of Veterinary Microbiology and Pathology and Program in Genetics and Cell Biology, Washington State University, 99164-7040, Pullman, Washington aut Prieur David Department of Veterinary Microbiology and Pathology and Program in Genetics and Cell Biology, Washington State University, 99164-7040, Pullman, Washington aut Biochemical Genetics Kluwer Academic Publishers-Plenum Publishers 26/11-12(1988-12-01), 733-746 0006-2928 26:11-12<733 1988 26 10528 https://doi.org/10.1007/BF02395519 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02395519 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ahern-Rindell Amelia Department of Veterinary Microbiology and Pathology and Program in Genetics and Cell Biology, Washington State University, 99164-7040, Pullman, Washington aut NATIONALLICENCE 700 1- Murnane Robert Department of Veterinary Microbiology and Pathology and Program in Genetics and Cell Biology, Washington State University, 99164-7040, Pullman, Washington aut NATIONALLICENCE 700 1- Prieur David Department of Veterinary Microbiology and Pathology and Program in Genetics and Cell Biology, Washington State University, 99164-7040, Pullman, Washington aut NATIONALLICENCE 773 0- Biochemical Genetics Kluwer Academic Publishers-Plenum Publishers 26/11-12(1988-12-01), 733-746 0006-2928 26:11-12<733 1988 26 10528 NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00553872 text/html Onlinezugriff via DOI Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE NATIONALLICENCE NL-springer