Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
1997-4-15
pubmed:abstractText
Ataxia-telangiectasia (AT) is an autosomal recessive disease characterized by neurodegeneration and immunodeficiency. Hypersensitivity to radiation and chromosome instability are the biological markers of this disease. The gene responsible for AT (ATM), has been identified on chromosome 11q22-23; it encodes a large polypeptide partially homologous to the phosphatidylinositol (PI) 3-kinase family. PI 3-kinase is a protein family playing an important role in the prevention of apoptosis. In order to investigate the apoptosis pathway, we tested peripheral blood cells from AT patients and controls exposed to 2-deoxy-D-ribose (dRib), a reducing sugar that induces apoptosis in human quiescent lymphocytes, probably through oxidative damage. Our results show that the response to dRib-induced apoptosis is significantly more elevated in AT cells than in control cells, suggesting that the apoptotic process plays a role in the pathogenesis of AT disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:volume
144
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
128-34
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Increased apoptotic response to 2-deoxy-D-ribose in ataxia-telangiectasia.
pubmed:affiliation
Unit of Neurometabolic Diseases, University of Siena, Policlinico Le Scotte, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't