Abstract
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.
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Beccari, T., Stinchi, S. & Orlacchio, A. Lysosomal α-D-mannosidase. Biosci Rep 19, 157–162 (1999). https://doi.org/10.1023/A:1020217501465
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DOI: https://doi.org/10.1023/A:1020217501465