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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...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2619062152

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

About this item

Full title

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

Journal title

bioRxiv, 2022-01

Language

English

Formats

Publication information

Publisher

Cold Spring Harbor: Cold Spring Harbor Laboratory Press

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

Identifiers

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