Linked Life Data

12087487

Source:http://linkedlifedata.com/resource/pubmed/id/12087487

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
17-18
pubmed:dateCreated
2002-6-27
pubmed:databankReference
pubmed:abstractText
The endoplasmic reticulum represents the cell's quality control site for accurate folding of secretory and membrane proteins. Quality control is achieved through the association of ER chaperones with unfolded or misfolded polypeptide chains. In the ER stress response, upregulation of chaperones occurs as a consequence of misfolded proteins accumulating in the ER lumen; if these proteins fail to assume their native structure, they are retained in the ER and targeted for degradation by the proteasome. ER storage diseases (ERSDs) are a group of genetically based disorders in which mutant proteins fail to pass the ER quality control. Because all eukaryotic cells contain the ER, the clinical phenotype of ERSDs is very heterogeneous. Disease may result from the mere lack of the mutant protein in question and/or may be caused indirectly by toxic effects of the misfolded protein or aggregates thereof on the cell. Additionally, the cell's reaction to the ER stress may include signaling pathways which are ultimately detrimental. Experimentally, ERSDs serve as models to study the cellular reactions to a variety of perturbations. In particular, understanding the links between ER stress and cell degeneration may give valuable insights into the pathogenesis of other diseases where the accumulation of indigestible toxic material leads to cell injury.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1424-7860
pubmed:author
pubmed:issnType
Print
pubmed:day
4
pubmed:volume
132
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
211-22
pubmed:dateRevised
2011-2-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Endoplasmic reticulum storage diseases.
pubmed:affiliation
Department of Medicine, Medical Clinic A, University Hospital, Basel, Switzerland. j.rutishauser@unibas.ch
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't