ArticleThe Journal of biological chemistry2009
Corneal dystrophy-associated R124H mutation disrupts TGFBI interaction with Periostin and causes mislocalization to the lysosome.
Article in The Journal of biological chemistry, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 60 citations in OpenAlex.
- CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies.Investigative ophthalmology & visual science · 2026Article
- Immunometabolic reprogramming and glycolysis-associated signatures in sepsis: insights from single-cell RNA sequencing and machine learning.Frontiers in immunology · 2026Article
- A review of periostin in orthopedics.Osteoarthritis and cartilage open · 2025Review
- The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction.Frontiers in molecular biosciences · 2024Article
- Molecular genetic analysis of R124H TGFBIp in one family Avellino corneal dystrophy.Molecular vision · 2024Article
- Periostin C-Terminal Is Intrinsically Disordered and Interacts with 143 Proteins in an In Vitro Epidermal Model of Atopic Dermatitis.Biochemistry · 2023Article
- SCO-spondin, a giant matricellular protein that regulates cerebrospinal fluid activity.Fluids and barriers of the CNS · 2021Review
- TGFBI modulates tumour hypoxia and promotes breast cancer metastasis.Molecular oncology · 2020Article
- Periostin and matrix stiffness combine to regulate myofibroblast differentiation and fibronectin synthesis during palatal healing.Matrix biology : journal of the International Society for Matrix Biology · 2020Article
- Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.Turkish journal of ophthalmology · 2020Article
- Expression of Osteoblast-Specific Factor 2 (OSF-2, Periostin) Is Associated with Drug Resistance in Ovarian Cancer Cell Lines.International journal of molecular sciences · 2019Article
- Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing.Eye (London, England) · 2019Review
- Identification of a Heterozygous Mutation in theJournal of ophthalmology · 2019Article
- Periostin function in communication with extracellular matrices.Journal of cell communication and signaling · 2018Review
- Periostin and its interacting proteins in the construction of extracellular architectures.Cellular and molecular life sciences : CMLS · 2017Review
- Phosphoinositide 3-kinase/protein kinase B/periostin mediated platelet-derived growth factor-induced cell proliferation and extracellular matrix production in lupus nephritis.Experimental biology and medicine (Maywood, N.J.) · 2017Article
- TGFBI functions similar to periostin but is uniquely dispensable during cardiac injury.PloS one · 2017Article
- Periostin (POSTN) Regulates Tumor Resistance to Antiangiogenic Therapy in Glioma Models.Molecular cancer therapeutics · 2016Article
- pH Induced Conformational Transitions in the Transforming Growth Factor β-Induced Protein (TGFβIp) Associated Corneal Dystrophy Mutants.Scientific reports · 2016Article
- Genetic analysis ofMolecular vision · 2016Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 5q31-linked corneal dystrophies are heterogeneous autosomal-dominant eye disorders pathologically characterized by the progressive accumulation of aggregated proteinaceous deposits in the cornea, which manifests clinically as severe vision impairment. The 5q31-linked corneal dystrophies are commonly caused by mutations in the TGFBI (transforming growth factor-beta-induced) gene. However, despite the identification of the culprit gene, the cellular roles of TGFBI and the molecular mechanisms underlying the pathogenesis of corneal dystrophy remain poorly understood. Here we report the identification of periostin, a molecule that is highly related to TGFBI, as a specific TGFBI-binding partner. The association of TGFBI and periostin is mediated by the amino-terminal cysteine-rich EMI domains of TGFBI and periostin. Our results indicate that the endogenous TGFBI and periostin colocalize within the trans-Golgi network and associate prior to secretion. The corneal dystrophy-associated R124H mutation in TGFBI severely impairs interaction with periostin in vivo. In addition, the R124H mutation causes aberrant redistribution of the mutant TGFBI into lysosomes. We also find that the periostin-TGFBI interaction is disrupted in corneal fibroblasts cultured from granular corneal dystrophy type II patients and that periostin accumulates in TGFBI-positive corneal deposits in granular corneal dystrophy type II (also known as Avellino corneal dystrophy). Together, our findings suggest that TGFBI and periostin may play cooperative cellular roles and that periostin may be involved in the pathogenesis of 5q31-linked corneal dystrophies.
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