Search Results - "Van Woerden, Geeske M"
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GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility
Published in Neuron (Cambridge, Mass.) (06-04-2016)“…Loss of maternal UBE3A causes Angelman syndrome (AS), a neurodevelopmental disorder associated with severe epilepsy. We previously implicated GABAergic…”
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Non-associative potentiation of perisomatic inhibition alters the temporal coding of neocortical layer 5 pyramidal neurons
Published in PLoS biology (01-07-2014)“…In the neocortex, the coexistence of temporally locked excitation and inhibition governs complex network activity underlying cognitive functions, and is…”
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3
The Wnt/Ca2+ pathway is involved in interneuronal communication mediated by tunneling nanotubes
Published in The EMBO journal (02-12-2019)“…Tunneling nanotubes (TNTs) are actin‐based transient tubular connections that allow direct communication between distant cells. TNTs play an important role in…”
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CaMKII controls neuromodulation via neuropeptide gene expression and axonal targeting of neuropeptide vesicles
Published in PLoS biology (10-08-2020)“…Ca2+/calmodulin-dependent kinase II (CaMKII) regulates synaptic plasticity in multiple ways, supposedly including the secretion of neuromodulators like…”
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A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants
Published in Molecular autism (14-09-2018)“…Angelman syndrome (AS) is a neurodevelopmental disorder caused by mutations affecting UBE3A function. AS is characterized by intellectual disability, impaired…”
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RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity
Published in PLoS biology (26-05-2021)“…Hyperactivation of the mammalian target of rapamycin (mTOR) pathway can cause malformation of cortical development (MCD) with associated epilepsy and…”
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Loss of CAMK2G affects intrinsic and motor behavior but has minimal impact on cognitive behavior
Published in Frontiers in neuroscience (06-01-2023)“…The gamma subunit of calcium/calmodulin-dependent protein kinase 2 (CAMK2G) is expressed throughout the brain and is associated with neurodevelopmental…”
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Cognitive deficits in Tsc1+/−mice in the absence of cerebral lesions and seizures
Published in Annals of neurology (01-12-2007)“…Objective Tuberous sclerosis complex (TSC) is characterized by brain lesions, epilepsy, increased incidence of mental retardation and autism. The causal link…”
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Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome
Published in Molecular autism (18-09-2020)“…Abstract Background Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by the loss of functional ubiquitin protein ligase E3A (UBE3A). In…”
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10
Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes
Published in Molecular autism (22-05-2019)“…Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting gene expression. Previous studies in mice revealed distinct…”
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The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function
Published in Human mutation (01-12-2018)“…The abundantly expressed calcium/calmodulin‐dependent protein kinase II (CAMK2), alpha (CAMK2A), and beta (CAMK2B) isoforms are essential for learning and…”
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12
Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome
Published in Frontiers in cellular neuroscience (04-01-2018)“…The neurodevelopmental disorder Angelman syndrome (AS) is characterized by intellectual disability, motor dysfunction, distinct behavioral aspects, and…”
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Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model
Published in The Journal of clinical investigation (01-11-2015)“…Angelman syndrome (AS) is a severe neurological disorder that is associated with prominent movement and balance impairments that are widely considered to be…”
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14
Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys)
Published in Frontiers in pharmacology (10-05-2022)“…Mutations in the genes encoding calcium/calmodulin dependent protein kinase II (CAMK2) isoforms cause a newly recognized neurodevelopmental disorder (ND), for…”
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The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons
Published in Molecular autism (29-11-2019)“…Although neuronal extracellular sensing is emerging as crucial for brain wiring and therefore plasticity, little is known about these processes in…”
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16
Rheb Is Essential for Murine Development
Published in Molecular and Cellular Biology (01-04-2011)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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The molecular, temporal and region-specific requirements of the beta isoform of Calcium/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse locomotion
Published in Scientific reports (31-05-2016)“…Genetic approaches using temporal and brain region-specific restricted gene deletions have provided a wealth of insight in the brain regions and temporal…”
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18
Focused ultrasound neuromodulation on a multiwell MEA
Published in Bioelectronic medicine (27-01-2022)“…Microelectrode arrays (MEA) enable the measurement and stimulation of the electrical activity of cultured cells. The integration of other neuromodulation…”
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Adult Camk2a gene reinstatement restores the learning and plasticity deficits of Camk2a knockout mice
Published in iScience (18-11-2022)“…With the recent findings that mutations in the gene encoding the α-subunit of calcium/calmodulin-dependent protein kinase II (CAMK2A) causes a…”
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CAMK2-Dependent Signaling in Neurons Is Essential for Survival
Published in The Journal of neuroscience (10-07-2019)Get full text
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