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

The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.

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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Crossref · 10.1038/ng0997-49

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49 of 49 references verified0 citation errors · 0 not checkable

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Citations

Cites

Research works printed but not linked: 1

  1. Wanders, R.J.A., Barth, P.G., Schutgens, R.B.H. & Tager, J.M. Peroxisomal disorders, in Peroxisomes: Biology and Importance in Toxicology and Medicine (eds Gibson, G. & Lake, B.) 63–98 (Taylor & Francis, London, 1993).

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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
ORCID
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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