Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models...
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
About this item
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Author / Creator
Unda, Brianna K , Chalil, Leon , Yoon, Sehyoun , Kilpatrick, Savannah , Sansi Xing , Murtaza, Nadeem , Cheng, Anran , Afonso, Alexandria , Mccready, Elizabeth , Ronen, Gabriel , Howe, Jennifer , Caye-Eude, Aurelie , Verloes, Alain , Doble, Brad W , Faivre, Laurence , Vitobello, Antonio , Lu, Yu , Penzes, Peter , Scherer, Stephen W and Singh, Karun K
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
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Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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More information
Scope and Contents
Contents
Copy number variations (CNV) are associated with psychiatric and neurodevelopmental disorders (NDDs), and most, including the recurrent 15q13.3 microdeletion disorder, have unknown disease mechanisms. We used a heterozygous 15q13.3 microdeletion mouse model and patient iPSC-derived neurons to reveal developmental defects in neuronal maturation and...
Alternative Titles
Full title
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
Authors, Artists and Contributors
Author / Creator
Chalil, Leon
Yoon, Sehyoun
Kilpatrick, Savannah
Sansi Xing
Murtaza, Nadeem
Cheng, Anran
Afonso, Alexandria
Mccready, Elizabeth
Ronen, Gabriel
Howe, Jennifer
Caye-Eude, Aurelie
Verloes, Alain
Doble, Brad W
Faivre, Laurence
Vitobello, Antonio
Lu, Yu
Penzes, Peter
Scherer, Stephen W
Singh, Karun K
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2619062152
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2619062152
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/2022.01.11.475723
How to access this item
https://www.proquest.com/docview/2619062152?pq-origsite=primo&accountid=13902