ArticleDisease models & mechanisms2011
PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress.
Article in Disease models & mechanisms, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 66 citations in OpenAlex.
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- Peroxisome and pexophagy in neurological diseases.Fundamental research · 2024Review
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- Metabolic Determinants of Cerebellar Circuit Formation and Maintenance.Cerebellum (London, England) · 2024Review
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- Lipidomics-Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases.International journal of molecular sciences · 2023Review
- Case Report: Identification of microduplication in the chromosomal 2p16.1p15 region in an infant suffering from pulmonary arterial hypertension.Frontiers in cardiovascular medicine · 2023Article
- Mouse Models to Study Peroxisomal Functions and Disorders: Overview, Caveats, and Recommendations.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Association of Oxidative Stress with Neurological Disorders.Current neuropharmacology · 2022Article
- Control of mitochondrial dynamics and apoptotic pathways by peroxisomes.Frontiers in cell and developmental biology · 2022Review
- Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations.Frontiers in cell and developmental biology · 2022Review
- Peroxisomes of the Brain: Distribution, Functions, and Associated Diseases.Neurotoxicity research · 2021Review
- Celia's Encephalopathy (Journal of clinical medicine · 2021Review
- Growth cone repulsion to Netrin-1 depends on lipid raft microdomains enriched in UNC5 receptors.Cellular and molecular life sciences : CMLS · 2021Article
- Enterovirus 71 induces neural cell apoptosis and autophagy through promoting ACOX1 downregulation and ROS generation.Virulence · 2020Article
- Maintaining social contacts: The physiological relevance of organelle interactions.Biochimica et biophysica acta. Molecular cell research · 2020Review
- A peroxisome deficiency-induced reductive cytosol state up-regulates the brain-derived neurotrophic factor pathway.The Journal of biological chemistry · 2020Article
- Peroxisome Deficiency Impairs BDNF Signaling and Memory.Frontiers in cell and developmental biology · 2020Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Delayed cerebellar development is a hallmark of Zellweger syndrome (ZS), a severe neonatal neurodegenerative disorder. ZS is caused by mutations in PEX genes, such as PEX13, which encodes a protein required for import of proteins into the peroxisome. The molecular basis of ZS pathogenesis is not known. We have created a conditional mouse mutant with brain-restricted deficiency of PEX13 that exhibits cerebellar morphological defects. PEX13 brain mutants survive into the postnatal period, with the majority dying by 35 days, and with survival inversely related to litter size and weaning body weight. The impact on peroxisomal metabolism in the mutant brain is mixed: plasmalogen content is reduced, but very-long-chain fatty acids are normal. PEX13 brain mutants exhibit defects in reflex and motor development that correlate with impaired cerebellar fissure and cortical layer formation, granule cell migration and Purkinje cell layer development. Astrogliosis and microgliosis are prominent features of the mutant cerebellum. At the molecular level, cultured cerebellar neurons from E19 PEX13-null mice exhibit elevated levels of reactive oxygen species and mitochondrial superoxide dismutase-2 (MnSOD), and show enhanced apoptosis together with mitochondrial dysfunction. PEX13 brain mutants show increased levels of MnSOD in cerebellum. Our findings suggest that PEX13 deficiency leads to mitochondria-mediated oxidative stress, neuronal cell death and impairment of cerebellar development. Thus, PEX13-deficient mice provide a valuable animal model for investigating the molecular basis and treatment of ZS cerebellar pathology.
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