Purkinje cell degeneration ( pcd ) Phenotypes Caused by Mutations in the Axotomy-Induced Gene, Nna1

• DOI: 10.1126/science.1068912
• Publication Date: 2002-07-27T09:35:18Z
• Authors: Angeles Fernandez...; Albert R. La Spada; Jason Treadaway; Jason C. Higdon; Belinda S. Harris; Richard L. Sidman; James I. Morgan; Jian Zuo
• Keywords: Axotomy; Degeneration (medical)

The classical recessive mouse mutant, Purkinje cell degeneration ( pcd ), exhibits adult-onset of cerebellar neurons, retinal photoreceptors, olfactory bulb mitral and selected thalamic has defective spermatogenesis. Here we identify Nna1 as the gene mutated in original two additional alleles 2J 3J ). encodes a putative nuclear protein containing zinc carboxypeptidase domain initially identified by its induction spinal motor neurons during axonal regeneration. present study suggests an unexpected molecular link between neuronal regeneration, results have potential implications for neurodegenerative diseases male infertility.