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Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.
Bilches Medinas, Danilo; Malik, Sajid; Yildiz-Bölükbasi, Esra; Borgonovo, Janina; Saaranen, Mirva J; Urra, Hery; Pulgar, Eduardo; Afzal, Muhammad; Contreras, Darwin; Wright, Madison T; Bodaleo, Felipe; Quiroz, Gabriel; Rozas, Pablo; Mumtaz, Sara; Díaz, Rodrigo; Rozas, Carlos; Cabral-Miranda, Felipe; Piña, Ricardo; Valenzuela, Vicente; Uyan, Ozgun; Reardon, Christopher; Woehlbier, Ute; Brown, Robert H; Sena-Esteves, Miguel; Gonzalez-Billault, Christian; Morales, Bernardo; Plate, Lars; Ruddock, Lloyd W; Concha, Miguel L; Hetz, Claudio; Tolun, Aslihan.
Affiliation
  • Bilches Medinas D; Biomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Malik S; FONDAP Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.
  • Yildiz-Bölükbasi E; Program of Cellular and Molecular Biology, Institute of Biomedical Sciences, University of Chile, Santiago, Chile.
  • Borgonovo J; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Saaranen MJ; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Urra H; Biomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Pulgar E; FONDAP Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.
  • Afzal M; Program of Integrative Biology, Institute of Biomedical Sciences, University of Chile, Santiago, Chile.
  • Contreras D; Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.
  • Wright MT; Biomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Bodaleo F; FONDAP Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.
  • Quiroz G; Program of Cellular and Molecular Biology, Institute of Biomedical Sciences, University of Chile, Santiago, Chile.
  • Rozas P; Biomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Mumtaz S; Program of Integrative Biology, Institute of Biomedical Sciences, University of Chile, Santiago, Chile.
  • Díaz R; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Rozas C; Laboratory of Neuroscience, Department of Biology, Faculty of Chemistry and Biology, University of Santiago de Chile, Santiago, Chile.
  • Cabral-Miranda F; Department of Chemistry, Vanderbilt University, Nashville, TN, USA.
  • Piña R; FONDAP Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.
  • Valenzuela V; Laboratory of Cell and Neuronal Dynamics (CENEDYN), Department of Biology, Faculty of Sciences, University of Chile, Santiago, Chile.
  • Uyan O; Biomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Reardon C; FONDAP Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.
  • Woehlbier U; Program of Cellular and Molecular Biology, Institute of Biomedical Sciences, University of Chile, Santiago, Chile.
  • Brown RH; Biomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Sena-Esteves M; FONDAP Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.
  • Gonzalez-Billault C; Program of Cellular and Molecular Biology, Institute of Biomedical Sciences, University of Chile, Santiago, Chile.
  • Morales B; Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Plate L; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.
  • Ruddock LW; Biomedical Neuroscience Institute, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Concha ML; FONDAP Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.
  • Hetz C; Program of Cellular and Molecular Biology, Institute of Biomedical Sciences, University of Chile, Santiago, Chile.
  • Tolun A; Laboratory of Neuroscience, Department of Biology, Faculty of Chemistry and Biology, University of Santiago de Chile, Santiago, Chile.
EMBO J ; 41(2): e105531, 2022 12 17.
Article in En | MEDLINE | ID: mdl-34904718
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Protein Disulfide-Isomerases / Endoplasmic Reticulum / Proteostasis Type of study: Etiology_studies Limits: Adolescent / Adult / Animals / Child / Female / Humans / Male Language: En Journal: EMBO J Year: 2022 Document type: Article Affiliation country: Chile Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Protein Disulfide-Isomerases / Endoplasmic Reticulum / Proteostasis Type of study: Etiology_studies Limits: Adolescent / Adult / Animals / Child / Female / Humans / Male Language: En Journal: EMBO J Year: 2022 Document type: Article Affiliation country: Chile Country of publication: Reino Unido