title: Lysosomal alpha-D-mannosidase.
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.
authors.affiliation: Dipartimento di Biologia Cellulare e Molecolare, Sezione di Biochimica e Biologia Molecolare, Università degli Studi di Perugia, Italy. dbcm@krene.it
authors.forename: T
authors.initials: T
authors.lastname: Beccari
authors.forename: S
authors.initials: S
authors.lastname: Stinchi
authors.forename: A
authors.initials: A
authors.lastname: Orlacchio
mesh_terms: D000818:Animals; D002415:Cats; D002417:Cattle; D006801:Humans; D008247:Lysosomes / Q000201:enzymology*; D008361:Mannosidases / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D012689:Sequence Homology, Nucleic Acid
chemical_list: D008361:Mannosidases