α-mannosidosis in the human is an autosomal recessive lysosomal storage disease caused by a deficiency of lysosomal α-D-mannosidasea actvity. Lysosomal α-D-mannosidase is involved in the catabolism of N-linked glycoproteins through the sequential degradation of high-mannose, hybrid and complex oligosaccharides. This review is focused on human, mouse, bovine and feline genes coding for lysosomal α-D-mannosidase. In particular the exon-intron structure of the genes, their promoters, and the identification of mutations causing the disease have been examined. The construction, by homologous recombination, of a mouse model of α-mannosidosis is reported.
Research Article|June 01 1999
Biosci Rep (1999) 19 (3): 157-162.
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Tommaso Beccari, Sofia Stinchi, Aldo Orlacchio; Lysosomal α-D-mannosidase. Biosci Rep 1 June 1999; 19 (3): 157–162. doi: https://doi.org/10.1023/A:1020217501465
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