2. Academic Validation
  3. Recent progress in lysosomal alpha-mannosidase and its deficiency

Recent progress in lysosomal alpha-mannosidase and its deficiency

  • Exp Mol Med. 2001 Mar 31;33(1):1-7. doi: 10.1038/emm.2001.1.
H Sun 1,  J H Wolfe
Affiliations

Affiliation

  • 1 Department of Veterinary Medicine, College of Animal Science and Veterinary Medicine, Yangzhou University, Jiangsu, PRC.
PMID: 11322479 DOI: 10.1038/emm.2001.1
Abstract

Lysosomal alpha-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, alpha-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.

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