ArticleHuman molecular genetics2014
Peroxidasin is essential for eye development in the mouse.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 68 citations in OpenAlex.
- The Genomic Basis of the Svalbard Reindeer's Adaptation to an Extreme Arctic Environment.Genome biology and evolution · 2025Article
- The life cycle of type IV collagen.Matrix biology : journal of the International Society for Matrix Biology · 2025Review
- Proteomic insights into the extracellular matrix: a focus on proteoforms and their implications in health and disease.Expert review of proteomics · 2024Review
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- Age-progressive interplay of HSP-proteostasis, ECM-cell junctions and biomechanics ensures C. elegans astroglial architecture.Nature communications · 2024Article
- Peroxidasin is required for full viability in development and for maintenance of tissue mechanics in adults.Matrix biology : journal of the International Society for Matrix Biology · 2024Article
- Mechanism of peroxidasin inactivation in hyperglycemia: Heme damage by reactive oxygen species.Biochemical and biophysical research communications · 2023Article
- Identification of brominated proteins in renal extracellular matrix: Potential interactions with peroxidasin.Biochemical and biophysical research communications · 2023Article
- Association of body mass index andHeliyon · 2023Article
- The role of peroxidasin in solid cancer progression.Biochemical Society transactions · 2023Review
- Implications of fibrotic extracellular matrix in diabetic retinopathy.Experimental biology and medicine (Maywood, N.J.) · 2022Review
- Mammalian peroxidasin (PXDN): From physiology to pathology.Free radical biology & medicine · 2022Review
- A Japanese patient with a 2p25.3 terminal deletion presented with early-onset obesity, intellectual disability and diabetes mellitus: A case report.Journal of diabetes investigation · 2022Article
- Low-Dose Anti-HIV Drug Efavirenz Mitigates Retinal Vascular Lesions in a Mouse Model of Alzheimer's Disease.Frontiers in pharmacology · 2022Article
- Deficiency of the bZIP transcription factors Mafg and Mafk causes misexpression of genes in distinct pathways and results in lens embryonic developmental defects.Frontiers in cell and developmental biology · 2022Article
- Peroxidasin Deficiency Re-programs Macrophages Toward Pro-fibrolysis Function and Promotes Collagen Resolution in Liver.Cellular and molecular gastroenterology and hepatology · 2022Article
- Characterization of the Proprotein Convertase-Mediated Processing of Peroxidasin and Peroxidasin-like Protein.Antioxidants (Basel, Switzerland) · 2021Article
- Peroxidasin-mediated bromine enrichment of basement membranes.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice.Investigative ophthalmology & visual science · 2020Article
- Biallelic Deletion ofInternational journal of molecular sciences · 2019Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in Peroxidasin (PXDN) cause severe inherited eye disorders in humans, such as congenital cataract, corneal opacity and developmental glaucoma. The role of peroxidasin during eye development is poorly understood. Here, we describe the first Pxdn mouse mutant which was induced by ENU (N-ethyl-N-nitrosourea) and led to a recessive phenotype. Sequence analysis of cDNA revealed a T3816A mutation resulting in a premature stop codon (Cys1272X) in the peroxidase domain. This mutation causes severe anterior segment dysgenesis and microphthalmia resembling the manifestations in patients with PXDN mutations. The proliferation and differentiation of the lens is disrupted in association with aberrant expression of transcription factor genes (Pax6 and Foxe3) in mutant eyes. Additionally, Pxdn is involved in the consolidation of the basement membrane and lens epithelium adhesion in the ocular lens. Lens material including γ-crystallin is extruded into the anterior and posterior chamber due to local loss of structural integrity of the lens capsule as a secondary damage to the anterior segment development leading to congenital ocular inflammation. Moreover, Pxdn mutants exhibited an early-onset glaucoma and progressive retinal dysgenesis. Transcriptome profiling revealed that peroxidasin affects the transcription of developmental and eye disease-related genes at early eye development. These findings suggest that peroxidasin is necessary for cell proliferation and differentiation and for basement membrane consolidation during eye development. Our studies provide pathogenic mechanisms of PXDN mutation-induced congenital eye diseases.
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