Alina Piekna

Hypersynchronous iPSC-derived SHANK2 neuronal networks are rescued by mGluR5 agonism

This study shows that SHANK2 variants cause hypersynchronous neuronal network activity in human iPSC-derived neurons, which is rescued by mGluR5 agonism.

Buffering of transcription rate by mRNA half-life is a conserved feature of Rett syndrome models

The paper investigates how mRNA half-life buffers transcription rate changes in Rett syndrome models, identifying post-transcriptional mechanisms in human and mouse neurons.

Transcriptional boosting and buffering during neurodevelopment by shifts in mRNA instability

The paper measures transcription rate and mRNA half-life changes during human neuronal development and identifies transcriptional buffering as the most prevalent mode of gene regulation.

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

This study examines the effects of MECP2 mutations on neuronal and network phenotypes in human stem cell-derived excitatory neurons, showing a spectrum of morphological, electrophysiological, and circuitry changes based on mutation severity.

Identification of TIA1 mRNA targets during human neuronal development

The paper identifies TIA1 mRNA targets during human neuronal development and shows that TIA1 binding is associated with translation repression and neurodevelopmental gene regulation.

Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation

The paper describes the generation of genetically annotated iPSC lines from healthy donors and demonstrates their use in creating disease-relevant cell types and identifying variant-preferred lines for control in disease modeling.

CNTN5-/+ or EHMT2-/+ iPSC-Derived Neurons from Individuals with Autism Develop Hyperactive Neuronal Networks

The paper models ASD-related variants in iPSC-derived neurons and finds hyperactive neuronal networks in CNTN5-/+ and EHMT2-/+ lines.

Complete Disruption of Autism-Susceptibility Genes by Gene-Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

This study uses CRISPR to knockout 10 ASD-related genes in iPSCs, revealing reduced functional connectivity in neurons despite diverse gene functions.