Galactosialidosis: molecular heterogeneity in biosynthesis and processing of protective protein for beta-galactosidase

Hum Genet. 1988 Dec;80(4):329-32. doi: 10.1007/BF00273645.

Abstract

Biosynthesis and processing of the protective protein for beta-galactosidase in normal and galactosialidosis fibroblasts were investigated using specific antiserum preparations. A 45-kd precursor was processed to a mature 30-kd protein in normal fibroblasts. The mature protective protein was not detected in any of the twelve galactosialidosis fibroblast strains examined in this study. The precursor was not detected in two cases and in the others was of heterogeneous molecular weight, i.e., normal, abnormally low, or abnormally high. These molecular abnormalities were not correlated with clinical manifestations of the patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cells, Cultured
  • Child
  • Female
  • Fibroblasts / enzymology
  • Galactosidases / deficiency*
  • Humans
  • Infant, Newborn
  • Male
  • Middle Aged
  • Molecular Weight
  • Neuraminidase / deficiency*
  • Neuraminidase / genetics
  • Protein Precursors / biosynthesis*
  • Protein Precursors / genetics
  • beta-Galactosidase / deficiency*
  • beta-Galactosidase / genetics

Substances

  • Protein Precursors
  • Galactosidases
  • Neuraminidase
  • beta-Galactosidase