[HTML][HTML] The power of human stem cell-based systems in the study of neurodevelopmental disorders

M Jhanji, EM York, SB Lizarraga - Current Opinion in Neurobiology, 2024 - Elsevier
Highlights•Overview of convergent disease mechanisms across NDDs identified in 2D & 3D
models.•Discuss therapeutic implications for various ASOs and gene editing …

The pleiotropic spectrum of proximal 16p11. 2 CNVs

C Auwerx, Z Kutalik, A Reymond - The American Journal of Human …, 2024 - cell.com
Recurrent genomic rearrangements at 16p11. 2 BP4-5 represent one of the most common
causes of genomic disorders. Originally associated with increased risk for autism spectrum …

Dysregulation of the mTOR-FMRP pathway and synaptic plasticity in an environmental model of ASD

ML Hilal, E Rosina, G Pedini, L Restivo, C Bagni - Molecular Psychiatry, 2024 - nature.com
Abstract Autism Spectrum Disorder (ASD) is caused by genetic, epigenetic, and
environmental factors. Mutations in the human FMR1 gene, encoding the Fragile X …

Reply to: “Correspondence to bipolar disorder-iPSC derived neural progenitor cells exhibit dysregulation of store-operated Ca2+ entry and accelerated differentiation …

T Hewitt, B Alural, N Becke, SD Sheridan… - Molecular …, 2024 - nature.com
We appreciate the opportunity to respond to Yde Ohki and colleagues' commentary [1] on
our recent publication [2]. We agree with the authors that sufficient and accurate information …