caa a22 4500 467985693 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194225 doi (NATIONALLICENCE)springer-10.1007/BF00194225 β-Galactosidase-deficient human fibroblasts: uptake and processing of the exogenous precursor enzyme expressed by stable transformant COS cells [Elektronische Daten] [Akihiro Oshima, Kohji Itoh, Yoshiro Nagao, Hitoshi Sakuraba, Yoshiyuki Suzuki] Summary: COS-1 cells were transfected by electroporation with a cDNA for human acid β-galactosidase cloned in our laboratory and stable transformants expressing the enzyme activity were selected. The precursor form of the enzyme was secreted in large quantities into the culture medium. The fibroblasts from patients with GM1-gangliosidosis or Morquio B disease showed a remarkable increase of enzyme activity, up to the normal level, after culture in this medium for 2 days; the amount of uptake was essentially the same as that for the precursor form in human fibroblasts. After endocytosis, the precursor molecules were processed normally to the mature form and remained as stable as those produced by human fibroblasts. On the other hand, cells from galactosialidosis patients did not show any increase of enzyme activity in a similar experiment. It was concluded that the transformants are useful as the source of precursor proteins for the study of intracellular turnover of enzyme molecules in mutant cells. Springer-Verlag, 1990 Oshima Akihiro Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan aut Itoh Kohji Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan aut Nagao Yoshiro Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan aut Sakuraba Hitoshi Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan aut Suzuki Yoshiyuki Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan aut Human Genetics Springer-Verlag 85/5(1990-10-01), 505-508 0340-6717 85:5<505 1990 85 439 https://doi.org/10.1007/BF00194225 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194225 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Oshima Akihiro Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Itoh Kohji Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Nagao Yoshiro Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Sakuraba Hitoshi Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Suzuki Yoshiyuki Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 505-508 0340-6717 85:5<505 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer