Linked Life Data

20370318

Source:http://linkedlifedata.com/resource/pubmed/id/20370318

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2010-6-9
pubmed:abstractText
Progressive visual impairment leading to blindness is often associated with inherited retinal dystrophies. These disorders correlate in most cases with mutations in genes that code for proteins of the visual transduction system in rod and cone photoreceptor cells. Recent progress has highlighted the involvement of a neuronal calcium sensor protein that is specifically expressed in rod and cone cells and operates as a guanylate cyclase-activating protein (GCAP). A group of patients suffering from cone or cone-rod dystrophies carry mutations in the GCAP1 gene, and biochemical analysis of GCAP1 function revealed that for most of these mutations GCAP1 exhibits a disturbance in its Ca(2+)-sensing and its guanylate cyclase-activating properties. Cellular consequences of different GCAP1 mutations are compared and discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1437-4315
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
391
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
631-7
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies.
pubmed:affiliation
Department of Biology and Environmental Sciences, Biochemistry Group, University of Oldenburg, D-26111 Oldenburg, Germany.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't