Linked Life Data

12789571

Source:http://linkedlifedata.com/resource/pubmed/id/12789571

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-6-5
pubmed:abstractText
The gene ABCA4 encodes the rod and cone photoreceptor Rim protein, which is a transmembrane transporter of vitamin A intermediates. ABCA 4 mutations are responsible for a large variety of retinal degenerations including all cases of Stargardt macular dystrophy and fundus flavimaculatus, some forms of cone-rod degeneration, and retinitis pigmentosa, and likely increase the risk of developing age-related macular degeneration (AMD). The purpose of this mini-review is to highlight the advances in our understanding of Stargardt disease and the ABCA4 gene from the first description of the disease by Karl Stargardt in 1909 to gene discovery by Allikmets and colleagues in 1997. The knockout mouse model by Mata and co-workers has provided crucial pathophysiological information that has led to new ideas regarding treatment possibilities. These hypotheses were tested by Radu and colleagues in the mouse and shown to be efficacious.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1381-6810
pubmed:author
pubmed:issnType
Print
pubmed:volume
24
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
75-80
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.
pubmed:affiliation
Department of Ophthalmology, McGill University, Montreal Children's Hospital, 2300 Tupper, Montreal, Quebec H3H 1P3, Canada.
pubmed:publicationType
Journal Article, Review