List of works - Ype Elgersma

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

scientific article published on 14 September 2018

A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris.

scientific article

A mouse model for learning and memory defects associated with neurofibromatosis type I.

scientific article published in November 1998

A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex

scientific article published on 19 June 2019

Accelerated age-related cognitive decline and neurodegeneration, caused by deficient DNA repair.

scientific article published in August 2011

Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome.

scientific article published on 6 August 2018

An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression

scientific article

Analysis of Cx36 knockout does not support tenet that olivary gap junctions are required for complex spike synchronization and normal motor performance.

scientific article

Arc expression identifies the lateral amygdala fear memory trace

scientific article published on 24 May 2016

Arc expression identifies the lateral amygdala fear memory trace.

scientific article

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

scientific article published on 18 September 2020

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1).

scientific article published on 8 February 2018

Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1

scientific article published on 30 October 2015

CAMK2-Dependent Signaling in Neurons Is Essential for Survival

scientific article published on 07 May 2019

Ca(2+)/calmodulin-dependent protein kinase IIα (αCaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome.

scientific article published on 9 July 2012

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

scientific article published on 31 October 2016

Calmodulin kinase II regulates amphetamine-induced reverse transport in the dopamine transporter: implications for the importance of the dopamine transporter in Angelman syndrome.

scientific article

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

scientific article published on 4 January 2018

Cerebellar LTD and Learning-Dependent Timing of Conditioned Eyelid Responses ⬇️

scientific article published on September 19, 2003

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

scientific article

Conditional deletion of α-CaMKII impairs integration of adult-generated granule cells into dentate gyrus circuits and hippocampus-dependent learning.

scientific article published in September 2014

Considerations for Clinical Therapeutic Development of Statins for Neurodevelopmental Disorders

scientific article published on 06 March 2020

Cytosolic aspartate aminotransferase encoded by the AAT2 gene is targeted to the peroxisomes in oleate-grown Saccharomyces cerevisiae.

scientific article

DNA binding properties of the integrase proteins of human immunodeficiency viruses types 1 and 2 ⬇️

scientific article published on July 25, 1991

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

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

scientific article published on 22 May 2019

Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome.

scientific article published in April 2003

Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial

scientific article

Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model

scientific article published on 24 June 2019

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

scientific article published in January 2017

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

scientific article published on 04 February 2020

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

scientific article published on 25 March 2019

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

scientific article published on 25 March 2019

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

scientific article published on 22 March 2016

Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome.

scientific article published in June 2007

HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1.

scientific article published on 28 April 2015

Hippocampal synaptic metaplasticity requires inhibitory autophosphorylation of Ca2+/calmodulin-dependent kinase II.

scientific article published on August 2005

Impact of neurofibromatosis type 1 on school performance.

scientific article published in September 2008

Impaired Neurite Contact Guidance in Ubiquitin Ligase E3a (Ube3a)-Deficient Hippocampal Neurons on Nanostructured Substrates.

scientific article published on 4 February 2016

Improvement of ubiquitylation site detection by Orbitrap mass spectrometry.

scientific article published on 6 November 2017

In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome

scientific article

Inhibitory autophosphorylation of CaMKII controls PSD association, plasticity, and learning.

scientific article

Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments

scientific article published on 10 March 2015

Interaction of SH-SY5Y cells with nanogratings during neuronal differentiation: comparison with primary neurons.

scientific article published on October 2013

Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex

scientific article published on 22 November 2016

Interval timing is intact in arrhythmic Cry1/Cry2-deficient mice.

scientific article published in August 2011

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

scientific article

Kinase activity is not required for alphaCaMKII-dependent presynaptic plasticity at CA3-CA1 synapses.

scientific article

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome

scientific article published on 24 June 2019

Mammalian target of rapamycin complex I (mTORC1) activity in ras homologue enriched in brain (Rheb)-deficient mouse embryonic fibroblasts

scientific article

Marked Reduction of AKT1 Expression and Deregulation of AKT1-Associated Pathways in Peripheral Blood Mononuclear Cells of Schizophrenia Patients ⬇️

scientific article published on February 29, 2012

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

scientific article published on 28 April 2017

Modulation of presynaptic plasticity and learning by the H-ras/extracellular signal-regulated kinase/synapsin I signaling pathway

scientific article

Molecular mechanisms of synaptic plasticity and memory.

scientific article

Motor Learning in Children with Neurofibromatosis Type I ⬇️

scientific article published on March 1, 2011

Motor deficits in neurofibromatosis type 1 mice: the role of the cerebellum.

scientific article

Mouse genetic approaches to investigating calcium/calmodulin-dependent protein kinase II function in plasticity and cognition.

scientific article published in September 2004

Neurodevelopmental disease: A molecular tightrope.

scientific article published in September 2015

Neurofibromin regulates HCN activity in Parvalbumin-positive interneurons.

scientific article published in November 2015

Neurofibromin regulation of ERK signaling modulates GABA release and learning

scientific article

Overexpression of Pex15p, a phosphorylated peroxisomal integral membrane protein required for peroxisome assembly in S.cerevisiae, causes proliferation of the endoplasmic reticulum membrane

scientific article published in December 1997

PAS10 is a tetratricopeptide-repeat protein that is essential for the import of most matrix proteins into peroxisomes of Saccharomyces cerevisiae

scientific article published on December 1993

Peroxisomal and mitochondrial carnitine acetyltransferases of Saccharomyces cerevisiae are encoded by a single gene.

scientific article

Proteins involved in peroxisome biogenesis and functioning.

scientific article

Purkinje cell-specific knockout of the protein phosphatase PP2B impairs potentiation and cerebellar motor learning

scientific article

Quantitative differentiation between healthy and disordered brain matter in patients with neurofibromatosis type I using diffusion tensor imaging.

scientific article published on 13 March 2008

Rapid changes in hippocampal CA1 pyramidal cell function via pre- as well as postsynaptic membrane mineralocorticoid receptors.

scientific article published in May 2008

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation.

scientific article

Rheb is essential for murine development

scientific article

Rheb: enrichment beyond the brain.

scientific article published in August 2011

Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trial.

scientific article

Spred1 is required for synaptic plasticity and hippocampus-dependent learning

scientific article

Synaptic transmission and plasticity at inputs to murine cerebellar Purkinje cells are largely dispensable for standard nonmotor tasks.

scientific article published on July 2013

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

scientific article published on 01 March 2021

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

scientific article published on 10 September 2013

Temporal and region-specific requirements of αCaMKII in spatial and contextual learning.

scientific article

The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research.

scientific article published on 20 July 2012

The SH3 domain of the Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import PTS1-containing proteins.

scientific article

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

scientific article published on 19 September 2018

The molecular, temporal and region-specific requirements of the beta isoform of Calcium/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse locomotion.

scientific article published on 31 May 2016

The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach

scientific article published on 21 April 2015

Transport of proteins and metabolites across the impermeable membrane of peroxisomes.

scientific article published on January 1995

Treatment of Cognitive Deficits in Genetic Disorders: A Systematic Review of Clinical Trials of Diet and Drug Treatments.

scientific article published on 13 July 2015

Treatment of intractable epilepsy in tuberous sclerosis complex with everolimus is not yet evidence-based.

scientific article published on 2 January 2014

Treatment of neurodevelopmental disorders in adulthood

scientific article

Ube3a loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice.

scientific article published on 3 May 2017

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

scientific article published on 13 April 2015

Unlike dietary restriction, rapamycin fails to extend lifespan and reduce transcription stress in progeroid DNA repair-deficient mice

scientific article published on 23 January 2021

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

scientific article published on 20 October 2017

alpha-Isoform of calcium-calmodulin-dependent protein kinase II and postsynaptic density protein 95 differentially regulate synaptic expression of NR2A- and NR2B-containing N-methyl-d-aspartate receptors in hippocampus.

scientific article published on 12 October 2007

α-Calcium calmodulin kinase II modulates the temporal structure of hippocampal bursting patterns

scientific article (publication date: 2012)

βCaMKII plays a nonenzymatic role in hippocampal synaptic plasticity and learning by targeting αCaMKII to synapses.

scientific article

List of works by Ype Elgersma

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

A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris.

A mouse model for learning and memory defects associated with neurofibromatosis type I.

A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex

Accelerated age-related cognitive decline and neurodegeneration, caused by deficient DNA repair.

Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome.

An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression

Analysis of Cx36 knockout does not support tenet that olivary gap junctions are required for complex spike synchronization and normal motor performance.

Arc expression identifies the lateral amygdala fear memory trace

Arc expression identifies the lateral amygdala fear memory trace.

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

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1).

Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1

CAMK2-Dependent Signaling in Neurons Is Essential for Survival

Ca(2+)/calmodulin-dependent protein kinase IIα (αCaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome.

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

Calmodulin kinase II regulates amphetamine-induced reverse transport in the dopamine transporter: implications for the importance of the dopamine transporter in Angelman syndrome.

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

Cerebellar LTD and Learning-Dependent Timing of Conditioned Eyelid Responses ⬇️

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

Conditional deletion of α-CaMKII impairs integration of adult-generated granule cells into dentate gyrus circuits and hippocampus-dependent learning.

Considerations for Clinical Therapeutic Development of Statins for Neurodevelopmental Disorders

Cytosolic aspartate aminotransferase encoded by the AAT2 gene is targeted to the peroxisomes in oleate-grown Saccharomyces cerevisiae.

DNA binding properties of the integrase proteins of human immunodeficiency viruses types 1 and 2 ⬇️

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

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

Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome.

Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial

Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model

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

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

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

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

Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome.

HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1.

Hippocampal synaptic metaplasticity requires inhibitory autophosphorylation of Ca2+/calmodulin-dependent kinase II.

Impact of neurofibromatosis type 1 on school performance.

Impaired Neurite Contact Guidance in Ubiquitin Ligase E3a (Ube3a)-Deficient Hippocampal Neurons on Nanostructured Substrates.

Improvement of ubiquitylation site detection by Orbitrap mass spectrometry.

In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome

Inhibitory autophosphorylation of CaMKII controls PSD association, plasticity, and learning.

Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments

Interaction of SH-SY5Y cells with nanogratings during neuronal differentiation: comparison with primary neurons.

Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex

Interval timing is intact in arrhythmic Cry1/Cry2-deficient mice.

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

Kinase activity is not required for alphaCaMKII-dependent presynaptic plasticity at CA3-CA1 synapses.

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome

Mammalian target of rapamycin complex I (mTORC1) activity in ras homologue enriched in brain (Rheb)-deficient mouse embryonic fibroblasts

Marked Reduction of AKT1 Expression and Deregulation of AKT1-Associated Pathways in Peripheral Blood Mononuclear Cells of Schizophrenia Patients ⬇️

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

Modulation of presynaptic plasticity and learning by the H-ras/extracellular signal-regulated kinase/synapsin I signaling pathway

Molecular mechanisms of synaptic plasticity and memory.

Motor Learning in Children with Neurofibromatosis Type I ⬇️

Motor deficits in neurofibromatosis type 1 mice: the role of the cerebellum.

Mouse genetic approaches to investigating calcium/calmodulin-dependent protein kinase II function in plasticity and cognition.

Neurodevelopmental disease: A molecular tightrope.

Neurofibromin regulates HCN activity in Parvalbumin-positive interneurons.

Neurofibromin regulation of ERK signaling modulates GABA release and learning

Overexpression of Pex15p, a phosphorylated peroxisomal integral membrane protein required for peroxisome assembly in S.cerevisiae, causes proliferation of the endoplasmic reticulum membrane

PAS10 is a tetratricopeptide-repeat protein that is essential for the import of most matrix proteins into peroxisomes of Saccharomyces cerevisiae

Peroxisomal and mitochondrial carnitine acetyltransferases of Saccharomyces cerevisiae are encoded by a single gene.

Proteins involved in peroxisome biogenesis and functioning.

Purkinje cell-specific knockout of the protein phosphatase PP2B impairs potentiation and cerebellar motor learning

Quantitative differentiation between healthy and disordered brain matter in patients with neurofibromatosis type I using diffusion tensor imaging.

Rapid changes in hippocampal CA1 pyramidal cell function via pre- as well as postsynaptic membrane mineralocorticoid receptors.

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation.

Rheb is essential for murine development

Rheb: enrichment beyond the brain.

Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trial.

Spred1 is required for synaptic plasticity and hippocampus-dependent learning

Synaptic transmission and plasticity at inputs to murine cerebellar Purkinje cells are largely dispensable for standard nonmotor tasks.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

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

Temporal and region-specific requirements of αCaMKII in spatial and contextual learning.

The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research.

The SH3 domain of the Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import PTS1-containing proteins.

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