ArticleEMBO molecular medicine2014
Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.
Article in EMBO molecular medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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38 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
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- Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.Human mutation · 2026Review
- ZIP13 marks muscle satellite cells and contributes to their quiescent and active phase balance.Scientific reports · 2025Article
- Zinc transporter ZIP10 supports zinc homeostasis and myoglobin biosynthesis in differentiating C2C12 myoblasts.Frontiers in cell and developmental biology · 2025Article
- Molecular insights into substrate translocation in an elevator-type metal transporter.Nature communications · 2024Article
- Molecular insights into substrate translocation in an elevator-type metal transporter.bioRxiv : the preprint server for biology · 2024Article
- Possible involvement of zinc transporter ZIP13 in myogenic differentiation.Scientific reports · 2024Article
- Cellular zinc metabolism and zinc signaling: from biological functions to diseases and therapeutic targets.Signal transduction and targeted therapy · 2024Review
- The impact of solute carrier proteins on disrupting substance regulation in metabolic disorders: insights and clinical applications.Frontiers in pharmacology · 2024Review
- Research progress on the molecular structure, function, and application in tumor therapy of zinc transporter ZIP4.International journal of biological sciences · 2024Review
- Structural insights into the elevator-type transport mechanism of a bacterial ZIP metal transporter.Nature communications · 2023Article
- Zinc and Zinc Transporters in Dermatology.International journal of molecular sciences · 2022Review
- Establishment of a Monoclonal Antibody against Human NTCP That Blocks Hepatitis B Virus Infection.Journal of virology · 2022Article
- Genetics of common cerebral small vessel disease.Nature reviews. Neurology · 2022Review
- The Role of Zinc Homeostasis in the Prevention of Diabetes Mellitus and Cardiovascular Diseases.Journal of atherosclerosis and thrombosis · 2021Review
- Zinc transporter SLC39A13/ZIP13 facilitates the metastasis of human ovarian cancer cells via activating Src/FAK signaling pathway.Journal of experimental & clinical cancer research : CR · 2021Article
- Zinc and Its Transporters in Epigenetics.Molecules and cells · 2020Article
- Zinc Homeostasis in Bone: Zinc Transporters and Bone Diseases.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
25 authors at 12 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The zinc transporter protein ZIP13 plays critical roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of Ehlers-Danlos syndrome (SCD-EDS, OMIM 612350). Here, we report the molecular pathogenic mechanism of SCD-EDS caused by two different mutant ZIP13 proteins found in human patients: ZIP13(G64D), in which Gly at amino acid position 64 is replaced by Asp, and ZIP13(ΔFLA), which contains a deletion of Phe-Leu-Ala. We demonstrated that both the ZIP13(G64D) and ZIP13(ΔFLA) protein levels are decreased by degradation via the valosin-containing protein (VCP)-linked ubiquitin proteasome pathway. The inhibition of degradation pathways rescued the protein expression levels, resulting in improved intracellular Zn homeostasis. Our findings uncover the pathogenic mechanisms elicited by mutant ZIP13 proteins. Further elucidation of these degradation processes may lead to novel therapeutic targets for SCD-EDS.
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