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Lysosomal alpha-D-mannosidase.

T Beccari·S Stinchi·A Orlacchio
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Abstract

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.

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AnimalsCatsCattleHumansLysosomesMannosidasesMiceSequence Homology, Nucleic AcidJournal ArticleReview

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T Beccari, S Stinchi, A Orlacchio. 1999. Lysosomal alpha-D-mannosidase.. https://doi.org/10.1023/a%3A1020217501465

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