Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis-Reference-Cited by-同舟云学术

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

Published:2021-12-14 Issue:2 Volume:41 Page:
ISSN:0261-4189
Container-title:The EMBO Journal
language:en
Short-container-title:The EMBO Journal

Author:

Bilches Medinas Danilo¹²³^ORCID,Malik Sajid⁴,Yıldız‐Bölükbaşı Esra⁵^ORCID,Borgonovo Janina¹²⁶,Saaranen Mirva J⁷^ORCID,Urra Hery¹²³,Pulgar Eduardo¹⁶,Afzal Muhammad⁴,Contreras Darwin⁸,Wright Madison T⁹^ORCID,Bodaleo Felipe²¹⁰,Quiroz Gabriel¹²³,Rozas Pablo¹²³,Mumtaz Sara⁴¹¹^ORCID,Díaz Rodrigo¹²³,Rozas Carlos⁸^ORCID,Cabral‐Miranda Felipe¹²³¹²,Piña Ricardo⁸^ORCID,Valenzuela Vicente¹²³,Uyan Ozgun¹³,Reardon Christopher¹³¹⁴,Woehlbier Ute¹⁵^ORCID,Brown Robert H¹³,Sena‐Esteves Miguel¹³¹⁴,Gonzalez‐Billault Christian²¹⁰¹⁶,Morales Bernardo⁸,Plate Lars⁹¹⁷^ORCID,Ruddock Lloyd W⁷^ORCID,Concha Miguel L¹²⁶,Hetz Claudio¹²³¹⁶^ORCID,Tolun Aslıhan⁵¹⁸^ORCID

Affiliation:

1. Biomedical Neuroscience Institute Faculty of Medicine University of Chile Santiago Chile

2. FONDAP Center for Geroscience Brain Health and Metabolism Santiago Chile

3. Program of Cellular and Molecular Biology Institute of Biomedical Sciences University of Chile Santiago Chile

4. Human Genetics Program Department of Zoology Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Pakistan

5. Department of Molecular Biology and Genetics Boğaziçi University Istanbul Turkey

6. Program of Integrative Biology Institute of Biomedical Sciences University of Chile Santiago Chile

7. Faculty of Biochemistry and Molecular Medicine University of Oulu Oulu Finland

8. Laboratory of Neuroscience Department of Biology Faculty of Chemistry and Biology University of Santiago de Chile Santiago Chile

9. Department of Chemistry Vanderbilt University Nashville TN USA

10. Laboratory of Cell and Neuronal Dynamics (CENEDYN) Department of Biology Faculty of Sciences University of Chile Santiago Chile

11. Department of Biological Sciences National University of Medical Sciences Rawalpindi Pakistan

12. Instituto de Ciências Biomédicas Universidade Federal do Rio de Janeiro Rio de Janeiro Brazil

13. Department of Neurology University of Massachusetts Medical School Worcester MA USA

14. Horae Gene Therapy Center University of Massachusetts Medical School Worcester MA USA

15. Center for Integrative Biology Faculty of Science Universidad Mayor Santiago Chile

16. Buck Institute for Research on Aging Novato CA USA

17. Department of Biological Sciences Vanderbilt University Nashville TN USA

18. Department of Molecular Biology and Genetics Istanbul Technical University Istanbul Turkey

Funder

U.S. Department of Defense

Muscular Dystrophy Association

Michael J. Fox Foundation for Parkinson's Research

Fondo Nacional de Desarrollo Científico y Tecnológico

European Commission

Office of Naval Research Global

Air Force Office of Scientific Research

Publisher

EMBO

Subject

General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,Molecular Biology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/embj.2020105531

Reference68 articles.

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2. High AAV vector purity results in serotype- and tissue-independent enhancement of transduction efficiency

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