ArticleThe EMBO journal2022
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.
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Article in The EMBO journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20citing papers in PubMed
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20 citing papers in PubMed, 28 citations in OpenAlex.
- The potential and therapeutic advances of the integrin family in neurological disorders.Neural regeneration research · 2026Article
- The RNA-Binding Proteins Promote Resistance of Microglial Cells to Hypoxia.Advanced pharmaceutical bulletin · 2026Article
- Disturbances of endoplasmic reticulum proteostasis in neurodevelopmental disorders.Biochemical Society transactions · 2025Review
- Knocked-OutInsects · 2025Article
- Proteomic analysis of hydrogen peroxide-treated human chondrocytes shows endoplasmic reticulum stress, cytoskeleton remodeling, and altered secretome composition.Cell communication and signaling : CCS · 2025Article
- Computational studies on the functional and structural impact of pathogenic mutations in enzymes.Protein science : a publication of the Protein Society · 2025Review
- Review: Utility of mass spectrometry in rare disease research and diagnosis.NPJ genomic medicine · 2025Review
- Therapeutic Options of Crystallin Mu and Protein Disulfide Isomerase A3 for Cuprizone-Induced Demyelination in Mouse Hippocampus.Neurochemical research · 2024Article
- Analysis of Punicalin and Punicalagin Interaction with PDIA3 and PDIA1.International journal of molecular sciences · 2024Article
- PDIA3 orchestrates effector T cell program by serving as a chaperone to facilitate the non-canonical nuclear import of STAT1 and PKM2.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Protein Disulfide Isomerase Endoplasmic Reticulum Protein 57 (ERp57) is Protective Against ALS-Associated Mutant TDP-43 in Neuronal Cells.Neuromolecular medicine · 2024Article
- Activity-Based Protein Profiling Identifies Protein Disulfide-Isomerases as Target Proteins of the Volatile Salinilactones.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Molecular hallmarks of ageing in amyotrophic lateral sclerosis.Cellular and molecular life sciences : CMLS · 2024Review
- Enzymatic and synthetic regulation of polypeptide folding.Chemical science · 2024Review
- Quantitative Proteomics Characterization of the Effect and Mechanism of Trichostatin A on the Hippocampus of Type II Diabetic Mice.Cellular and molecular neurobiology · 2023Article
- Protein Disulfide Isomerase A3 (PDIA3): A Pharmacological Target in Glioblastoma?International journal of molecular sciences · 2023Article
- PDIA3 Expression Is Altered in the Limbic Brain Regions of Triple-Transgenic Mouse Model of Alzheimer's Disease.International journal of molecular sciences · 2023Article
- Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.The EMBO journal · 2022Article
- Protein Disulfide Isomerases Function as the Missing Link Between Diabetes and Cancer.Antioxidants & redox signaling · 2022Review
- The regulatory role of endoplasmic reticulum chaperone proteins in neurodevelopment.Frontiers in neuroscience · 2022Review
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Authors and funding
31 authors at 11 institutions in 6 countries.
Danilo Bilches MedinasBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.ORCID 0000-0002-1822-1974
Sajid MalikHuman Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Esra Yıldız-BölükbaşıDepartment of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.ORCID 0000-0002-3251-8133
Janina BorgonovoBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
Mirva J SaaranenFaculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.ORCID 0000-0003-3399-9415
Hery UrraBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
Eduardo PulgarBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
Muhammad AfzalHuman Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Darwin ContrerasLaboratory of Neuroscience, Department of Biology, Faculty of Chemistry and Biology, University of Santiago de Chile, Santiago, Chile.
Madison T WrightDepartment of Chemistry, Vanderbilt University, Nashville, TN, USA.ORCID 0000-0002-2274-7856
Felipe BodaleoFONDAP Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.
Gabriel QuirozBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
Pablo RozasBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
Sara MumtazHuman Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.ORCID 0000-0003-0503-1060
Rodrigo DíazBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
Carlos RozasLaboratory of Neuroscience, Department of Biology, Faculty of Chemistry and Biology, University of Santiago de Chile, Santiago, Chile.ORCID 0000-0002-6422-9600
Felipe Cabral-MirandaBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
Ricardo PiñaLaboratory of Neuroscience, Department of Biology, Faculty of Chemistry and Biology, University of Santiago de Chile, Santiago, Chile.ORCID 0000-0002-2316-8952
Vicente ValenzuelaBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
Ozgun UyanDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, USA.
Christopher ReardonDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, USA.
Ute WoehlbierCenter for Integrative Biology, Faculty of Science, Universidad Mayor, Santiago, Chile.ORCID 0000-0003-3114-9708
Robert H BrownDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, USA.
Miguel Sena-EstevesDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA, USA.
Christian Gonzalez-BillaultFONDAP Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.
Bernardo MoralesLaboratory of Neuroscience, Department of Biology, Faculty of Chemistry and Biology, University of Santiago de Chile, Santiago, Chile.
Lars PlateDepartment of Chemistry, Vanderbilt University, Nashville, TN, USA.ORCID 0000-0003-4363-6116
Lloyd W RuddockFaculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.ORCID 0000-0002-6247-686X
Miguel L ConchaBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
Claudio HetzBiomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.ORCID 0000-0003-1120-7966
Aslıhan TolunDepartment of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.ORCID 0000-0002-0328-6046
Center for Climate and Resilience Research · CLUniversidad de Santiago de Chile · CLUniversity of Massachusetts Chan Medical School · USQuaid-i-Azam University · PKBoğaziçi University · TRBuck Institute for Research on Aging · USUniversity of Oulu · FIVanderbilt University · USUniversidade Federal do Rio de Janeiro · BRUniversidad Mayor · CLUniversity of Chile · CL
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recessive gene mutations underlie many developmental disorders and often lead to disabling neurological problems. Here, we report identification of a homozygous c.170G>A (p.Cys57Tyr or C57Y) mutation in the gene coding for protein disulfide isomerase A3 (PDIA3, also known as ERp57), an enzyme that catalyzes formation of disulfide bonds in the endoplasmic reticulum, to be associated with syndromic intellectual disability. Experiments in zebrafish embryos show that PDIA3
Indexed as
ProteostasisAdolescentAdultAnimalsAxonsCell AdhesionCells, CulturedChildCytoskeletonDevelopmental DisabilitiesEndoplasmic ReticulumFemaleHippocampusHumansIntegrinsMaleIntegrinsPDIA3 protein, humanProtein Disulfide-Isomerasesactin cytoskeletoncell adhesionintegrinsintellectual disabilityprotein disulfide isomerase
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.