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A mouse model for Zellweger syndrome
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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“Currently, several mouse models of the Zellweger spectrum disorders are available, which are represented by mice with targeted deletions in the genes encoding the peroxins PEX2, PEX5 or PEX13 [60–62].”
From Peroxisomes in brain development and function (2016) · cites this paper as [60]
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Metadata
- 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
- Venue
- Nature Genetics
- Published
- 1997-09
- Volume
- 17
- Issue
- 1
- Pages
- 49-57
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- 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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