Title: A mouse model for Zellweger syndrome
Authors: Baes, Myriam ×
Gressens, P
Baumgart, Eveline
Carmeliet, Peter
Casteels, Minne
Fransen, Marc
Evrard, P
Fahimi, D
Declercq, P E
Collen, Desire
Van Veldhoven, Paul P
Mannaerts, Guy #
Issue Date: Sep-1997
Series Title: Nature genetics vol:17 issue:1 pages:49-57
Abstract: 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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular and Vascular Biology
Cell Metabolism
Pharmacology Section (-)
Department of Pharmaceutical & Pharmacological Sciences - miscellaneous
Laboratory of Lipid Biochemistry and Protein Interactions
Laboratory of Angiogenesis and Vascular Metabolism (VIB-KU Leuven Centre for Cancer Biology) (+)
× corresponding author
# (joint) last author

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