Mucolipidosis II (I-cell disease) and Mucolipidosis III (ML III) are inherited disorders in which the molecular defect may involve an abnormality in a common post-translational modification step (possibly glycosylation) shared by lysosomal hydrolases. We tested whether such an alteration might be a
Subcellular distribution of lysosomal hydrolases in mucolipidosis III and a mucolipidosis III variant
β Scribed by L. Kalaydjieva; M. Cantz
- Publisher
- Springer
- Year
- 1981
- Tongue
- English
- Weight
- 107 KB
- Volume
- 4
- Category
- Article
- ISSN
- 0141-8955
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The N-acetylglucosaminyl-1-phosphotransferase (termed phosphotransferase) catalyzes the initial step in the formation of mannose 6-phosphate (M6P) residues required for the efficient transport of soluble lysosomal enzymes. The phosphotransferase is a multisubunit enzyme composed of three subunits (a