Document Detail

A mouse model for Zellweger syndrome.
MedLine Citation:
PMID:  9288097     Owner:  NLM     Status:  MEDLINE    
The cerebro-hepato-renal syndrome of Zellweger is a fatal inherited disease caused by deficient import of peroxisomal matrix proteins. The pathogenic mechanisms leading to extreme hypotonia, severe mental retardation and early death are unknown. We generated a Zellweger animal model through inactivation of the murine Pxr1 gene (formally known as Pex5) that encodes the import receptor for most peroxisomal matrix proteins. Pxr1-/- mice lacked morphologically identifiable peroxisomes and exhibited the typical biochemical abnormalities of Zellweger patients. They displayed intrauterine growth retardation, were severely hypotonic at birth and died within 72 hours. Analysis of the neocortex revealed impaired neuronal migration and maturation and extensive apoptotic death of neurons.
M Baes; P Gressens; E Baumgart; P Carmeliet; M Casteels; M Fransen; P Evrard; D Fahimi; P E Declercq; D Collen; P P van Veldhoven; G P Mannaerts
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Nature genetics     Volume:  17     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1997 Sep 
Date Detail:
Created Date:  1997-10-02     Completed Date:  1997-10-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  49-57     Citation Subset:  IM    
Laboratory of Clinical Chemistry, Kathlieke Universiteit Leuven, Belgium.
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MeSH Terms
Animals, Newborn
Base Sequence
Brain / metabolism,  pathology
Cerebral Cortex / pathology
DNA / biosynthesis
DNA Primers
Disease Models, Animal
Fetal Growth Retardation
Fibroblasts / metabolism
Liver / metabolism,  pathology
Mice, Knockout
Molecular Sequence Data
Neurons / pathology,  physiology
Polymerase Chain Reaction
Receptors, Cytoplasmic and Nuclear / deficiency*,  genetics*,  metabolism
Recombination, Genetic
Zellweger Syndrome / genetics*,  pathology,  physiopathology
Reg. No./Substance:
0/DNA Primers; 0/Receptors, Cytoplasmic and Nuclear; 0/peroxisome-targeting signal 1 receptor; 9007-49-2/DNA

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