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Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis

Danilo B. Medinas, Sajid Malik, Esra Yıldız Bölükbaşı, Janina Borgonovo, Mirva J. Saaranen, Hery Urra, Eduardo Pulgar, Muhammad Afzal, Darwin Contreras, Madison T. Wright, Felipe Bodaleo, Gabriel Quiroz, Pablo Rozas, Sara Mumtaz, Rodrigo Dı́az, Carlos Rozas, Felipe Cabral‐Miranda, Ricardo Piña, Vicente Valenzuela, Özgün Uyan, Christopher Reardon, Ute Woehlbier, Robert H. Brown, Miguel Sena‐Esteves, Christian González‐Billault, Bernardo Morales, Lars Plate, Lloyd W. Ruddock, Miguel L. Concha, Claudio Hetz, Aslıhan Tolun

2021The EMBO Journal29 citationsDOIOpen Access PDF

Topics & Concepts

Endoplasmic reticulumProtein disulfide-isomeraseProteostasisBiologyCell biologyMutationChaperone (clinical)GeneGeneticsPathologyMedicineEndoplasmic Reticulum Stress and DiseasePancreatic function and diabetesAutophagy in Disease and Therapy
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis | Litcius