Article
Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions.
Investigative ophthalmology & visual science - 1 Nov 2007
Gelfman Claire M, Vogel Peter, Issa Tawfik M, Turner C Alexander, Lee Wang-Sik, Kornfeld Stuart, Rice Dennis S
Abstract excerpt
PURPOSE: Mucolipidosis II and III (ML II; ML III) are lysosomal storage diseases characterized by a deficiency in GlcNAc-1-phosphotransferase. Patients with ML III have retinal disease, but in cases of the more clinically severe ML II, human ophthalmic studies are limited. In this study, retinal function and overall disease were assessed in mice lacking GNPTAB, the gene mutated in patients with ML II. METHODS:...
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