Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
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Author / Creator
Mircsof, Dennis , Langouët, Maéva , Rio, Marlène , Moutton, Sébastien , Siquier-Pernet, Karine , Bole-Feysot, Christine , Cagnard, Nicolas , Nitschke, Patrick , Gaspar, Ludmila , Žnidarič, Matej , Alibeu, Olivier , Fritz, Ann-Kristina , Wolfer, David P , Schröter, Aileen , Bosshard, Giovanna , Rudin, Markus , Koester, Christina , Crestani, Florence , Seebeck, Petra , Boddaert, Nathalie , Prescott, Katrina , Hines, Rochelle , Moss, Steven J , Fritschy, Jean-Marc , Munnich, Arnold , Amiel, Jeanne , Brown, Steven A , Tyagarajan, Shiva K , Colleaux, Laurence , The DDD Study and DDD Study
Publisher
New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Via exome sequencing, the authors identified mutations in the NONO protein, a member of the DBHS family, as a likely cause of severe intellectual disability. Using animal and cell models, they found that nearly one-third of NONO-regulated transcripts were synaptosomal and that NONO depletion directly affected inhibitory synaptic structure.
The N...
Alternative Titles
Full title
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
Authors, Artists and Contributors
Author / Creator
Langouët, Maéva
Rio, Marlène
Moutton, Sébastien
Siquier-Pernet, Karine
Bole-Feysot, Christine
Cagnard, Nicolas
Nitschke, Patrick
Gaspar, Ludmila
Žnidarič, Matej
Alibeu, Olivier
Fritz, Ann-Kristina
Wolfer, David P
Schröter, Aileen
Bosshard, Giovanna
Rudin, Markus
Koester, Christina
Crestani, Florence
Seebeck, Petra
Boddaert, Nathalie
Prescott, Katrina
Hines, Rochelle
Moss, Steven J
Fritschy, Jean-Marc
Munnich, Arnold
Amiel, Jeanne
Brown, Steven A
Tyagarajan, Shiva K
Colleaux, Laurence
The DDD Study
DDD Study
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5392243
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5392243
Other Identifiers
ISSN
1097-6256
E-ISSN
1546-1726
DOI
10.1038/nn.4169
