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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Hatten, M. E. Faust, P. L. |
| Description | Author Affiliation: Faust PL ( Laboratory of Developmental Neurobiology, The Rockefeller University, New York, New York 10021, USA. plf3@columbia.edu) |
| Abstract | Zellweger syndrome is a peroxisomal biogenesis disorder that results in abnormal neuronal migration in the central nervous system and severe neurologic dysfunction. The pathogenesis of the multiple severe anomalies associated with the disorders of peroxisome biogenesis remains unknown. To study the relationship between lack of peroxisomal function and organ dysfunction, the PEX2 peroxisome assembly gene (formerly peroxisome assembly factor-1) was disrupted by gene targeting. Homozygous PEX2-deficient mice survive in utero but die several hours after birth. The mutant animals do not feed and are hypoactive and markedly hypotonic. The PEX2-deficient mice lack normal peroxisomes but do assemble empty peroxisome membrane ghosts. They display abnormal peroxisomal biochemical parameters, including accumulations of very long chain fatty acids in plasma and deficient erythrocyte plasmalogens. Abnormal lipid storage is evident in the adrenal cortex, with characteristic lamellar–lipid inclusions. In the central nervous system of newborn mutant mice there is disordered lamination in the cerebral cortex and an increased cell density in the underlying white matter, indicating an abnormality of neuronal migration. These findings demonstrate that mice with a PEX2 gene deletion have a peroxisomal disorder and provide an important model to study the role of peroxisomal function in the pathogenesis of this human disease. |
| ISSN | 00219525 |
| e-ISSN | 15408140 |
| Journal | The Journal of Cell Biology |
| Issue Number | 5 |
| Volume Number | 139 |
| Language | English |
| Publisher | Rockefeller University Press (United States) |
| Publisher Date | 1997-12-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Brain Pathology Membrane Proteins Genetics Mice, Mutant Strains Microbodies Zellweger Syndrome Adrenal Glands Animals Cell Movement Cerebellum Cerebral Cortex Cloning, Molecular Disease Models, Animal Erythrocytes Chemistry Fatty Acids Blood Liver Mice Molecular Sequence Data Morphogenesis Neurons Plasmalogens Skull Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Cell Biology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Cell Biology Medicine |
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