Linked Life Data

11130848

Source:http://linkedlifedata.com/resource/pubmed/id/11130848

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2000-12-27
pubmed:abstractText
Lysosomal storage diseases are monogenic metabolic disorders resulting from a deficiency in intralysosomal enzymes involved in macromolecule catabolism. Various groups have been delineated according to the affected pathway and the accumulated substrate: mucopolysaccharidoses, lipidoses, glycoproteinoses and glycogenosis type II. Their clinical severity and the absence of efficient therapy for the majority of these disorders justify the development of gene transfer methods. Most of the genes encoding the normal lysosomal enzymes have been cloned and recently numerous animal models have been obtained for nearly all these diseases. Due to the clinical heterogeneity of lysosomal diseases, showing multivisceral involvement or affecting predominantly the reticuloendothelial system, muscle or central nervous system, various gene therapy strategies have to be developed. Vectors, ways of access, results and limits will be reviewed. Interesting results have already been obtained in the gene transfer for lysosomal diseases, but improvements are needed before a future application to humans.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0753-3322
pubmed:author
pubmed:issnType
Print
pubmed:volume
54
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
505-12
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Gene therapy in lysosomal diseases.
pubmed:affiliation
Laboratoire de Génétique and INSERM U 129, Université Paris V, CHU Cochin Port-Royal, France.
pubmed:publicationType
Journal Article, Review