Article
Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease.
Investigative ophthalmology & visual science - 1 Aug 2006
Raz-Prag Dorit, Ayyagari Radha, Fariss Robert N, Mandal Md Nawajes A, Vasireddy Vidyullatha, Majchrzak Sharon, Webber Andrea L, Bush Ronald A, Salem Norman, Petrukhin Konstantin, Sieving Paul A
Abstract excerpt
PURPOSE: Autosomal dominant Stargardt-like (STGD3) disease results from mutations in the ELOVL4 gene (elongation of very-long-chain fatty acids). This study was undertaken to characterize a mouse model with a targeted deletion of Elovl4 and to explore the role of this gene in retinal/macular degeneration. METHODS: A construct targeted to exon 2 of the Elovl4 gene was used to suppress expression of the gene....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.