Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations

Federica Mosti; Mariah L. Hoye; Carla F. Escobar-Tomlienovich; Debra L. Silver

doi:10.1371/journal.pgen.1011555

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Peer-reviewed

Research Article

Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations

Federica Mosti,

Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliations Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America, Department of Neurobiology, Duke University School of Medicine, Durham, North Carolina, United States of America

https://orcid.org/0000-0001-6317-9093

⨯
Mariah L. Hoye,

Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Writing – review & editing

Affiliation Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America
⨯
Carla F. Escobar-Tomlienovich,

Roles Formal analysis, Validation, Writing – review & editing

Affiliations Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America, Department of Neurobiology, Duke University School of Medicine, Durham, North Carolina, United States of America

https://orcid.org/0000-0003-2580-7719

⨯
Debra L. Silver

Roles Conceptualization, Funding acquisition, Methodology, Project administration, Supervision, Writing – original draft, Writing – review & editing

* E-mail: debra.silver@duke.edu

Affiliations Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America, Department of Neurobiology, Duke University School of Medicine, Durham, North Carolina, United States of America, Department of Cell Biology, Duke University School of Medicine, Durham, North Carolina, United States of America, Duke Institute for Brain Sciences and Duke Regeneration Center, Duke University School of Medicine, Durham, North Carolina, United States of America

https://orcid.org/0000-0001-9189-844X

⨯

Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations

Federica Mosti,
Mariah L. Hoye,
Carla F. Escobar-Tomlienovich,
Debra L. Silver

Published: January 21, 2025
https://doi.org/10.1371/journal.pgen.1011555

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Missense mutation
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Neurons
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DNA damage
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Apoptosis
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Gene ontologies
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