Cited by 275Metabolism and Genetic DisordersHereditary Neurological DisordersNeurological diseases and metabolism

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A mouse model for Zellweger syndrome

Baes, Myriam, Gressens, Pierre, Baumgart, Eveline, Carmeliet, Peter, Casteels, Minne, Fransen, Marc, Evrard, Philippe, Fahimi, Dariush, Declercq, Peter E., Collen, Désiré, van Veldhoven, Paul P., Mannaerts, Guy P.·1997·Nature Genetics

DOI 10.1038/ng0997-49

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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.

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Authors: Baes, M., Gressens, P., Baumgart, E., Carmeliet, P., Casteels, M., Fransen, M., Evrard, P., Fahimi, D., Declercq, P. E., Collen, D., van Veldhoven, P. P., & Mannaerts, G. P.
Affiliations: KU Leuven (BE)
Vlaams Instituut voor Biotechnologie (BE)
Hôpital Robert-Debré (FR)
Heidelberg University (DE)
Corresponding author: Baes, Myriam
ORCID: Baes, Myriam
Carmeliet, Peter
Casteels, Minne
Fransen, Marc
Declercq, Peter E.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1997-09
Volume: 17
Issue: 1
Pages: 49-57
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0997-49
OpenAlex: W1964697500
Cited by: 275
References: 49
Citations by year: 2026: 4 · 2025: 6 · 2024: 2 · 2023: 9 · 2022: 8 · 2021: 6 · 2020: 13 · 2019: 8 · 2018: 5 · 2017: 11 · 2016: 3 · 2015: 7 · 2014: 13 · 2013: 8 · 2012: 7
FWCI: 9.74
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Research Portal (King's College London) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords: Zellweger syndrome, PEX5, peroxisomal matrix protein import, peroxisome biogenesis disorders, mouse model, peroxisome deficiency, neuronal migration, neuronal apoptosis, hypotonia, intellectual disability, fetal growth restriction, cerebro-hepato-renal syndrome
MeSH terms: Peroxisome-Targeting Signal 1 Receptor, Animals, Animals, Newborn, Base Sequence, Brain, Cerebral Cortex, Death, Disease Models, Animal, DNA, Female, Fetal Growth Retardation, Fibroblasts, Humans, Liver, Molecular Sequence Data, Neurons, Pregnancy, Recombination, Genetic, Zellweger Syndrome, Polymerase Chain Reaction, Apoptosis, DNA Primers, Receptors, Cytoplasmic and Nuclear, Mice, Knockout, Mice

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A mouse model for Zellweger syndrome

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