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Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1.

Science (New York, N.Y.) | Mar 8, 2002

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 (pcd2J and pcd3J). 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.

Pubmed ID: 11884758 RIS Download

Mesh terms: Alleles | Animals | Axotomy | Blotting, Northern | Brain | Carboxypeptidases | Chromosome Mapping | Crosses, Genetic | Female | GTP-Binding Proteins | Gene Expression | Genes | In Situ Hybridization | Male | Mice | Mice, Neurologic Mutants | Molecular Sequence Data | Mutation | Nerve Degeneration | Nerve Regeneration | Neurons | Phenotype | Purkinje Cells | RNA, Messenger | Retina | Serine-Type D-Ala-D-Ala Carboxypeptidase | Spermatogenesis | Testis

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Associated grants

  • Agency: NEI NIH HHS, Id: EY 12950
  • Agency: NCI NIH HHS, Id: R25 CA023944
  • Agency: NINDS NIH HHS, Id: NS 40361
  • Agency: NCI NIH HHS, Id: CA21765
  • Agency: NCRR NIH HHS, Id: RR 01183
  • Agency: NIDCD NIH HHS, Id: DC 04761
  • Agency: NIEHS NIH HHS, Id: ES 10772
  • Agency: NCI NIH HHS, Id: CA 23944

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