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| A mouse model for Zellweger syndrome |
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| Author(s): Baes M, Gressens P, Baumgart E, Carmeliet P, Casteels M, Fransen M, Evrard P, Fahimi D, Declercq PE, Collen D, vanVeldhoven PP, Mannaerts GP |
| Source: NATURE GENETICS Volume: 17 Issue: 1 Pages: 49-57 Published: SEP 1997 |
| Times Cited: 129 References: 47 |
| 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Baes, M (reprint author), KATHOLIEKE UNIV LEUVEN, CLIN CHEM LAB, B-3001 LOUVAIN, BELGIUM |
Addresses:
1. HOP ROBERT DEBRE, SERV NEUROL PEDIAT, F-75019 PARIS, FRANCE
2. HOP ROBERT DEBRE, LAB NEUROL DEV, F-75019 PARIS, FRANCE
3. UNIV HEIDELBERG, INST ANAT & ZELLBIOL 2, D-6900 HEIDELBERG, GERMANY
4. VLAAMS INST BIOTECHNOL, CTR TRANSGENE TECHNOL & GENE THERAPY, LOUVAIN, BELGIUM
5. KATHOLIEKE UNIV LEUVEN, PHARMACOL LAB, B-3001 LOUVAIN, BELGIUM |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: XU724 |
| ISSN: 1061-4036 |
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