Ype Elgersma

Navigating Human Astrocyte Differentiation: Direct and Rapid one-step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network development

This study presents a one-step protocol to differentiate hiPSCs into functional astrocytes, enabling co-culture with neurons to support network development.

Maturation-dependent splicing alterations constrain SYNGAP1 splice-switching therapy

The paper shows that SYNGAP1 splice-switching therapy may be ineffective in mature neurons due to reduced A3SS transcript abundance.

Localization of Human UBE3A Isoform 3 is Highly Sensitive to Amino Acid Substitutions at p.Met21 Position

The paper investigates how amino acid substitutions at position p.Met21 affect the localization of human UBE3A isoform 3, showing high sensitivity to these changes.

Simultaneous loss of CAMK2A and CAMK2B reveals endogenous in vivo substrates

The paper identifies novel endogenous CAMK2 substrates by analyzing phosphoproteomic data from double knockout mice.

UBE3A reinstatement restores behavior and proteome in an Angelman Syndrome mouse model of Imprinting Defects

This study shows that restoring UBE3A expression in a mouse model of Angelman Syndrome improves behavior and proteome, supporting UBE3A reinstatement as a therapeutic strategy.

Modeling mTORopathy-related epilepsy in cultured murine hippocampal neurons using the multi-electrode array

This study models mTORopathy-related epilepsy in cultured murine hippocampal neurons using a multi-electrode array to identify network activity phenotypes and test drug treatments.

Adult Camk2a gene reinstatement restores the learning and plasticity deficits of Camk2a knockout mice

This study shows that restoring CAMK2A expression in adult Camk2a knockout mice rescues learning and plasticity deficits, indicating that CAMK2A is not essential for irreversible neurodevelopment.

Bidirectional changes in excitability upon loss of both CAMK2A and CAMK2B.

This study shows that loss of both CAMK2A and CAMK2B causes bidirectional changes in neuronal excitability and synaptic transmission in hippocampal CA1 pyramidal neurons.

A novel automated approach for improving standardization of the marble burying test enables quantification of burying bouts and activity characteristics

This paper introduces an automated method to quantify burying bouts and activity characteristics in the marble burying test using machine learning, revealing differences in behavior across mouse models of neurodevelopmental disorders.

RHEB/mTOR-hyperactivity causing cortical malformations drives seizures through increased axonal connectivity

This study shows that RHEB/mTOR hyperactivity causes cortical malformations and seizures through increased axonal connectivity, not just local malformations.

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

This study identifies RPH3A as a novel UBE3A ubiquitination target and shows that UBE3A mono-ubiquitination of RPH3A does not mediate degradation.

Within-subject consistency of paired associative stimulation as assessed by linear mixed models.

This study assesses the within-subject consistency of paired associative stimulation (PAS) using linear mixed models and finds poor consistency and significant potentiation during PAS induction.