| First Author | Beccari T | Year | 1999 |
| Journal | Biosci Rep | Volume | 19 |
| Issue | 3 | Pages | 157-62 |
| PubMed ID | 10513892 | Mgi Jnum | J:59740 |
| Mgi Id | MGI:1352110 | Doi | 10.1023/a:1020217501465 |
| Citation | Beccari T, et al. (1999) Lysosomal alpha-D-mannosidase. Biosci Rep 19(3):157-62 |
| abstractText | Alpha-mannosidosis in the human is an autosomal recessive lysosomal storage disease caused by a deficiency of lysosomal alpha-D-mannosidasea activity. Lysosomal alpha-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 alpha-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 alpha-mannosidosis is reported. |
