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
AUTHORS (8)
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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CITATIONS (208)
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