The DOI matches its Crossref record; 44 of the 44 references it cites were found in a registry or an index.
Pex13 Inactivation in the Mouse Disrupts Peroxisome Biogenesis and Leads to a Zellweger Syndrome Phenotype
Open accessAbstract
Zellweger syndrome is the archetypical peroxisome biogenesis disorder and is characterized by defective import of proteins into the peroxisome, leading to peroxisomal metabolic dysfunction and widespread tissue pathology. In humans, mutations in the PEX13 gene, which encodes a peroxisomal membrane protein necessary for peroxisomal protein import, can lead to a Zellweger phenotype. To develop mouse models for this disorder, we have generated a targeted mouse with a loxP-modified Pex13 gene to enable conditional Cre recombinase-mediated inactivation of Pex13. In the studies reported here, we crossed these mice with transgenic mice that express Cre recombinase in all cells to generate progeny with ubiquitous disruption of Pex13. The mutant pups exhibited many of the clinical features of Zellweger syndrome patients, including intrauterine growth retardation, severe hypotonia, failure to feed, and neonatal death. These animals lacked morphologically intact peroxisomes and showed deficient import of matrix proteins containing either type 1 or type 2 targeting signals. Biochemical analyses of tissue and cultured skin fibroblasts from these animals indicated severe impairment of peroxisomal fatty acid oxidation and plasmalogen synthesis. The brains of these animals showed disordered lamination in the cerebral cortex, consistent with a neuronal migration defect. Thus, Pex13(-/-) mice reproduce many of the features of Zellweger syndrome and PEX13 deficiency in humans.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“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 [62]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
Schwenk, F., Baron, U., & Rajewsky, K. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.24.5080 · Cited by 1,289
Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome
Goldfischer, S. L., Moore, C. L., Johnson, T., Spiro, A. J., Valsamis, M. P., Wisniewski, H. K., Ritch, R. H., Norton, W. T., Rapin, I., & Gartner, L. M. (1973) · Science · doi:10.1126/science.182.4107.62 · Cited by 791
A unified nomenclature for peroxisome biogenesis factors.
Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., et al. (1996) · The Journal of Cell Biology · doi:10.1083/jcb.135.1.1 · Cited by 414
Self-citationPeroxisome biogenesis disorders
Gould, S. J., & Valle, D. L. (2000) · Trends in Genetics · doi:10.1016/s0168-9525(00)02056-4 · Cited by 354
Purdue, P. E., & Lazarow, P. B. (2001) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.17.1.701 · Cited by 323
A mouse model for Zellweger syndrome
Baes, M., Gressens, P., Baumgart, E., Carmeliet, P., Casteels, M., Fransen, M., Evrard, P., Fahimi, D., Declercq, P. E., Collen, D., et al. (1997) · Nature Genetics · doi:10.1038/ng0997-49 · Cited by 275
Gould, S. J., Kalish, J. E., Morrell, J. C., Björkman, J., Urquhart, A. J., & Crane, D. I. (1996) · The Journal of Cell Biology · doi:10.1083/jcb.135.1.85 · Cited by 243
Self-citationDammai, V., & Subramani, S. E. (2001) · Cell · doi:10.1016/s0092-8674(01)00310-5 · Cited by 241
Identification of Pex13p a peroxisomal membrane receptor for the PTS1 recognition factor.
Erdmann, R., & Blobel, G. (1996) · The Journal of Cell Biology · doi:10.1083/jcb.135.1.111 · Cited by 222
Research works printed but not linked: 1
- Moser H. W., 1993, Adv. Hum. Genet., 21, 1
Cited by
Sorted by citations
Biochemistry of mammalian peroxisomes revisited
Wanders, R. J. A., & Waterham, H. R. (2006) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.74.082803.133329 · Cited by 995
Functions and biosynthesis of plasmalogens in health and disease
Brites, P., Waterham, H. R., & Wanders, R. J. A. (2004) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2003.12.010 · Cited by 430
Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models
Chrast, R., Saher, G., Nave, K.-A., & Verheijen, M. H. G. (2011) · Journal of Lipid Research · doi:10.1194/jlr.r009761 · Cited by 314
The ether lipid-deficient mouse: Tracking down plasmalogen functions
Gorgas, K., Teigler, A., Komljenovic, D., & Just, W. W. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.08.038 · Cited by 235
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
Wanders, R. J. A., & Waterham, H. R. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00329.x · Cited by 220
Metadata
- Authors
- Maxwell, M., Bjorkman, J., Nguyen, T., Sharp, P., Finnie, J., Paterson, C., Tonks, I., Paton, B. C., Kay, G. F., & Crane, D. I.
- Affiliations
- Griffith University (AU)
- School of Biomolecular and Biomedical Science, Griffith University, Nathan, Brisbane, Queensland 4111
- Women's and Children's Hospital (AU)
- South Australia Pathology (AU)
- QIMR Berghofer Medical Research Institute (AU)
- Corresponding author
- Crane, Denis I.
- Venue
- Molecular and Cellular Biology
- Publisher
- Informa UK Limited
- Published
- 2003-08-01
- Volume
- 23
- Issue
- 16
- Pages
- 5947-5957
- ISSN
- 0270-7306 (ISSN-L)
- 1098-5549
- PMC
- PMC166343
- OpenAlex
- W2109302938
- Cited by
- 110
- References
- 44
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 4 · 2023: 3 · 2022: 5 · 2021: 4 · 2020: 9 · 2019: 6 · 2018: 3 · 2017: 5 · 2016: 5 · 2015: 5 · 2014: 7 · 2013: 4 · 2012: 4
- FWCI
- 2.28
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Molecular and Cellular Biology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Griffith Research Online (submittedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Funders
- Medical Research Council
- National Health and Medical Research Council (123107)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- PEX13, Zellweger syndrome, peroxisome biogenesis disorders, peroxisomal protein import, conditional knockout mice, peroxisomal fatty acid oxidation, plasmalogen synthesis, neuronal migration defects, fetal growth restriction, hypotonia, peroxisomal membrane proteins
- MeSH terms
- Animals, Base Sequence, Cell Movement, Cerebral Cortex, Disease Models, Animal, Fibroblasts, Liver, Luminescent Proteins, Membrane Proteins, Mice, Transgenic, Microscopy, Electron, Microscopy, Fluorescence, Molecular Sequence Data, Mutation, Neurons, Phenotype, Plasmids, Transcription, Genetic, Protein Biosynthesis, Viral Proteins, Blotting, Northern, Blotting, Western, Zellweger Syndrome, Mice, Knockout, Integrases, Reverse Transcriptase Polymerase Chain Reaction, Peroxisomes, Hepatocytes, Green Fluorescent Proteins, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
