Article
The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Feb 2006
Chakrabarti Lisa, Neal James T, Miles Michael, Martinez Refugio A, Smith Annette C, Sopher Bryce L, La Spada Albert R
Abstract excerpt
In the mouse, Purkinje cell degeneration (pcd) is a recessive mutation characterized by degeneration of cerebellar Purkinje cells, retinal photoreceptors, olfactory bulb mitral neurons, and certain thalamic neurons, and is accompanied by defective spermatogenesis. Previous studies of pcd have led to the identification of Nna1 as the causal gene; however, how loss of Nna1 function results in neurodegeneration...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.