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UBE3A reinstatement as a disease‐modifying therapy for Angelman syndrome

Developmental medicine and child neurology, 2021-07, Vol.63 (7), p.802-807

2021

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CAMK2-Dependent Signaling in Neurons Is Essential for Survival

The Journal of neuroscience, 2019-07, Vol.39 (28), p.5424-5439

2019

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A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants

Molecular autism, 2018-09, Vol.9 (1), p.47-47, Article 47

2018

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Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations

Human molecular genetics, 2021-04, Vol.30 (6), p.430-442

2021

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Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning

Cell, 2008-10, Vol.135 (3), p.549-560

2008

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Calcium threshold shift enables frequency-independent control of plasticity by an instructive signal

Proceedings of the National Academy of Sciences - PNAS, 2016-11, Vol.113 (46), p.13221-13226

2016

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Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function

Scientific reports, 2021-02, Vol.11 (1), p.3007-3007, Article 3007

2021

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GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility

Neuron (Cambridge, Mass.), 2016-04, Vol.90 (1), p.56-69

2016

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RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity

PLoS biology, 2021-05, Vol.19 (5), p.e3001279-e3001279

2021

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The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome

International journal of molecular sciences, 2022-12, Vol.24 (1), p.303

2022

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A brain proteomic investigation of rapamycin effects in the Tsc1 +/- mouse model

Molecular autism, 2017-08, Vol.8 (1), p.41-41, Article 41

2017

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Cognitive deficits in Tsc1+/−mice in the absence of cerebral lesions and seizures

Annals of neurology, 2007-12, Vol.62 (6), p.648-655

2007

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Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome

Molecular autism, 2020-09, Vol.11 (1), p.1-70, Article 70

2020

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Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

Genetics in medicine, 2020-05, Vol.22 (5), p.889-897

2020

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TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice

Annals of neurology, 2013-10, Vol.74 (4), p.569-579

2013

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Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes

Molecular autism, 2019-05, Vol.10 (1), p.23-23, Article 23

2019

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Cortical Inhibition and Plasticity in Major Depressive Disorder

Frontiers in psychiatry, 2022-01, Vol.13, p.777422-777422

2022

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The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function

Human mutation, 2018-12, Vol.39 (12), p.2008-2024

2018

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Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome

Translational psychiatry, 2022-10, Vol.12 (1), p.426-9, Article 426

2022

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Intrinsic plasticity complements long-term potentiation in parallel fiber input gain control in cerebellar Purkinje cells

The Journal of neuroscience, 2010-10, Vol.30 (41), p.13630-13643

2010

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Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial

Lancet neurology, 2013-11, Vol.12 (11), p.1076-1083

2013

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Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model

The Journal of clinical investigation, 2015-11, Vol.125 (11), p.4305-4315

2015

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Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models

Scientific reports, 2017-04, Vol.7 (1), p.1256-19, Article 1256

2017

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Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome

Frontiers in cellular neuroscience, 2018-01, Vol.11, p.418-418

2018

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Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model

JCI insight, 2021-08, Vol.6 (15)

2021

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UBE3A reinstatement as a disease‐modifying therapy for Angelman syndrome

CAMK2-Dependent Signaling in Neurons Is Essential for Survival

A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations

Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning

Calcium threshold shift enables frequency-independent control of plasticity by an instructive signal

Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function

GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility

RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity

The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome

A brain proteomic investigation of rapamycin effects in the Tsc1 +/- mouse model

Cognitive deficits in Tsc1+/−mice in the absence of cerebral lesions and seizures

Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes

Cortical Inhibition and Plasticity in Major Depressive Disorder

The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function

Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome

Intrinsic plasticity complements long-term potentiation in parallel fiber input gain control in cerebellar Purkinje cells

Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial

Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models

Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome

Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model

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