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

Male 0301 basic medicine Blotting-Northern Molecular Sequence Data Gene-Expression In-Situ-Hybridization 610 Gene Expression Carboxypeptidases Retina Mice Mice, Neurologic Mutants 03 medical and health sciences Purkinje-Cells GTP-Binding Proteins SUPPORT-U-S-GOVT-P-H-S Testis 616 Animals Nerve-Regeneration Spermatogenesis SUPPORT-NON-U-S-GOVT Alleles Crosses, Genetic In Situ Hybridization Neurons 0303 health sciences Animal Mice-Neurologic-Mutants RNA-Messenger Brain Chromosome Mapping Crosses-Genetic Axotomy Blotting, Northern GTP-Binding-Proteins Nerve Regeneration Nerve-Degeneration Phenotype Genes Chromosome-Mapping Mutation Nerve Degeneration Female
DOI: 10.1126/science.1068912 Publication Date: 2002-07-27T09:35:18Z
ABSTRACT
The classical recessive mouse mutant, Purkinje cell degeneration ( pcd ), exhibits adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons, and selected thalamic neurons, and has defective spermatogenesis. Here we identify Nna1 as the gene mutated in the original pcd and two additional pcd alleles ( pcd 2J and pcd 3J ). Nna1 encodes a putative nuclear protein containing a zinc carboxypeptidase domain initially identified by its induction in spinal motor neurons during axonal regeneration. The present study suggests an unexpected molecular link between neuronal degeneration and regeneration, and its results have potential implications for neurodegenerative diseases and male infertility.
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