Article
The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice.
Vision research - 1 Sept 2008
Chakrabarti Lisa, Eng Jeremiah, Martinez Refugio A, Jackson Stephen, Huang Jing, Possin Daniel E, Sopher Bryce L, La Spada Albert R
Abstract excerpt
The Purkinje cell degeneration (pcd) mouse undergoes retinal photoreceptor degeneration and Purkinje cell loss. Nna1 is postulated to be the causal gene for pcd. We show that a BAC containing the Nna1 gene rescues retinal photoreceptor loss and Purkinje cell degeneration, confirming that Nna1 loss-of-function is responsible for these phenotypes. Mutation of the zinc-binding domain within the transgene destroyed...
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