Article
The loss of vacuolar protein sorting 11 (vps11) causes retinal pathogenesis in a vertebrate model of syndromic albinism.
Investigative ophthalmology & visual science - 11 May 2011
Thomas Jennifer L, Vihtelic Thomas S, denDekker Aaron D, Willer Gregory, Luo Xixia, Murphy Taylor R, Gregg Ronald G, Hyde David R, Thummel Ryan
Abstract excerpt
PURPOSE: To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS). METHODS: Bulked segregant analysis and candidate gene sequencing revealed that the zebrafish platinum mutation is a single-nucleotide insertion in the vps11 (vacuolar protein sorting 11) gene....
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