Recent progress in lysosomal α-mannosidase and its deficiency
Open Access
- 1 March 2001
- journal article
- review article
- Published by Springer Nature in Experimental & Molecular Medicine
- Vol. 33 (1) , 1-7
- https://doi.org/10.1038/emm.2001.1
Abstract
Lysosomal α-mannosidase (EC 3.2.1.24) is a major exoglycosidase in the glycoprotein degradation pathway. A deficiency of this enzyme causes the lysosomal storage disease, α-mannosidosis, which has been described in humans, cattle, domestic cats and guinea pigs. Recently, great progress has been made in studying the enzyme and its deficiency. This includes cloning of the gene encoding the enzyme, characterization of mutations related to the disease, establishment of valuable animal models, and encouraging results from bone marrow transplantation experiments.Keywords
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