Linked Life Data

10513892

Source:http://linkedlifedata.com/resource/pubmed/id/10513892

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1999-11-4
pubmed: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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0144-8463
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
157-62
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Lysosomal alpha-D-mannosidase.
pubmed:affiliation
Dipartimento di Biologia Cellulare e Molecolare, Sezione di Biochimica e Biologia Molecolare, Università degli Studi di Perugia, Italy. dbcm@krene.it
pubmed:publicationType
Journal Article, Review