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.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
About this article
Cite this article
Sun, H., Wolfe, J. Recent progress in lysosomal α-mannosidase and its deficiency. Exp Mol Med 33, 1–7 (2001). https://doi.org/10.1038/emm.2001.1
Published:
Issue date:
DOI: https://doi.org/10.1038/emm.2001.1
Keywords
This article is cited by
-
Purification and Characterization of α-Mannosidase from Moss Hyophilla nymaniana (Fleish.) Menzel
Proceedings of the National Academy of Sciences, India Section B: Biological Sciences (2019)
-
Biochemical Characterization of a Lysosomal α-Mannosidase from the Starfish Asterias rubens
The Protein Journal (2018)
-
Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1
Molecular Therapy (2016)
-
Animal models for metabolic, neuromuscular and ophthalmological rare diseases
Nature Reviews Drug Discovery (2013)
-
The neuropsychiatry of inborn errors of metabolism
Journal of Inherited Metabolic Disease (2013)
