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dc.contributor.author
Amendola, Elena
dc.contributor.author
Zhan, Yang
dc.contributor.author
Mattucci, Camilla
dc.contributor.author
Castroflorio, Enrico
dc.contributor.author
Calcagno, Eleonora
dc.contributor.author
Fuchs, Claudia
dc.contributor.author
Lonetti, Giuseppina
dc.contributor.author
Silingardi, Davide
dc.contributor.author
Vyssotski, Alexei L.
dc.contributor.author
Farley, Dominika
dc.contributor.author
Ciani, Elisabetta
dc.contributor.author
Pizzorusso, Tommaso
dc.contributor.author
Giustetto, Maurizio
dc.contributor.author
Gross, Cornelius T.
dc.date.accessioned
2018-11-15T08:18:11Z
dc.date.available
2017-06-11T11:57:39Z
dc.date.available
2018-11-15T08:18:11Z
dc.date.issued
2014-05-16
dc.identifier.issn
1932-6203
dc.identifier.other
10.1371/journal.pone.0091613
en_US
dc.identifier.uri
http://hdl.handle.net/20.500.11850/88167
dc.identifier.doi
10.3929/ethz-b-000088167
dc.description.abstract
Mutations in cyclin-dependent kinase-like 5 (CDKL5) cause early-onset epileptic encephalopathy, a neurodevelopmental disorder with similarities to Rett Syndrome. Here we describe the physiological, molecular, and behavioral phenotyping of a Cdkl5 conditional knockout mouse model of CDKL5 disorder. Behavioral analysis of constitutive Cdkl5 knockout mice revealed key features of the human disorder, including limb clasping, hypoactivity, and abnormal eye tracking. Anatomical, physiological, and molecular analysis of the knockout uncovered potential pathological substrates of the disorder, including reduced dendritic arborization of cortical neurons, abnormal electroencephalograph (EEG) responses to convulsant treatment, decreased visual evoked responses (VEPs), and alterations in the Akt/rpS6 signaling pathway. Selective knockout of Cdkl5 in excitatory and inhibitory forebrain neurons allowed us to map the behavioral features of the disorder to separable cell-types. These findings identify physiological and molecular deficits in specific forebrain neuron populations as possible pathological substrates in CDKL5 disorder.
en_US
dc.format
application/pdf
en_US
dc.language.iso
en
en_US
dc.publisher
Public Library of Science
en_US
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/
dc.title
Mapping Pathological Phenotypes in a Mouse Model of CDKL5 Disorder
en_US
dc.type
Journal Article
dc.rights.license
Creative Commons Attribution 4.0 International
ethz.journal.title
PLoS ONE
ethz.journal.volume
9
en_US
ethz.journal.issue
5
en_US
ethz.journal.abbreviated
PLoS ONE
ethz.pages.start
e91613
en_US
ethz.size
12 p.
en_US
ethz.version.deposit
publishedVersion
en_US
ethz.identifier.wos
ethz.identifier.nebis
006206116
ethz.publication.place
S.l.
en_US
ethz.publication.status
published
en_US
ethz.leitzahl
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02140 - Dep. Inf.technologie und Elektrotechnik / Dep. of Inform.Technol. Electrical Eng.::02533 - Institut für Neuroinformatik / Institute of Neuroinformatics::03774 - Hahnloser, Richard H.R. / Hahnloser, Richard H.R.
en_US
ethz.leitzahl.certified
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02140 - Dep. Inf.technologie und Elektrotechnik / Dep. of Inform.Technol. Electrical Eng.::02533 - Institut für Neuroinformatik / Institute of Neuroinformatics::03774 - Hahnloser, Richard H.R. / Hahnloser, Richard H.R.
ethz.date.deposited
2017-06-11T11:57:45Z
ethz.source
ECIT
ethz.identifier.importid
imp593652361ced914886
ethz.ecitpid
pub:138759
ethz.eth
yes
en_US
ethz.availability
Open access
en_US
ethz.rosetta.installDate
2017-07-13T06:54:45Z
ethz.rosetta.lastUpdated
2018-11-02T15:31:37Z
ethz.rosetta.exportRequired
true
ethz.rosetta.versionExported
true
ethz.COinS
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