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Article

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

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

Fernandez-Gonzalez Angeles, La Spada Albert R, Treadaway Jason, Higdon Jason C, Harris Belinda S, Sidman Richard L, Morgan James I, Zuo Jian

Abstract excerpt

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...

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Identifiers

PMID: 11884758
DOI: 10.1126/science.1068912

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1.PMID 11884758Read ↗

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Mitochondrial dysfunction in NnaD mutant flies and Purkinje cell degeneration mice reveals a role for Nna proteins in neuronal bioenergetics.Semantic proximity Read ↗

The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein.Semantic proximity Read ↗

A structural and functional analysis of Nna1 in Purkinje cell degeneration (pcd) mice.Semantic proximity Read ↗

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