Deficiency of the zinc finger protein ZPR1 causes neurodegeneration
Authors
Doran, BethGherbesi, Norberto G.
Hendricks, Gregory M.
Flavell, Richard A.
Davis, Roger J.
Gangwani, Laxman
UMass Chan Affiliations
Department of Cell BiologyProgram in Molecular Medicine and Howard Hughes Medical Institute
Document Type
Journal ArticlePublication Date
2006-05-02Keywords
AnimalsApoptosis
Axons
Carrier Proteins
Cell Differentiation
Cells, Cultured
Disease Progression
Mice
Mice, Transgenic
Microscopy, Electron, Transmission
Microtubules
Motor Neurons
Nerve Degeneration
Zinc Fingers
Life Sciences
Medicine and Health Sciences
Metadata
Show full item recordAbstract
Mutations that cause reduced expression of the full-length Survival Motor Neurons (SMN) protein are a major cause of spinal muscular atrophy (SMA), a disease characterized by degeneration of the alpha-motor neurons in the anterior horn of the spinal cord. The severity of SMA may be influenced by the actions of modifier genes. One potential modifier gene is represented by ZPR1, which is down-regulated in patients with SMA and encodes a zinc finger protein that interacts with complexes formed by SMN. To test the functional significance of ZPR1 gene down-regulation, we examined a mouse model with targeted ablation of the Zpr1 gene. We report that ZPR1-deficient mice exhibit axonal pathology and neurodegeneration. These data identify ZPR1 deficiency as a contributing factor in neurodegenerative disorders.Source
Proc Natl Acad Sci U S A. 2006 May 9;103(19):7471-5. Epub 2006 Apr 28. Link to article on publisher's site
DOI
10.1073/pnas.0602057103Permanent Link to this Item
http://hdl.handle.net/20.500.14038/38919PubMed ID
16648254Related Resources
ae974a485f413a2113503eed53cd6c53
10.1073/pnas.0602057103