Miguel Rodríguez de los Santos

Trisomy 21 Drives ADARB1 Overexpression and Premature RNA Recoding in the Developing Fetal Brain

This study identifies ADARB1 overexpression in T21 fetal brain due to trisomy 21, leading to increased A-to-I RNA editing and altered GRIA gene recoding.

Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome

This study examines the transient blood transcriptomic changes in children with ADNP syndrome following ketamine treatment, revealing acute immune-related gene expression alterations that revert to baseline within a week.

Divergent landscapes of A-to-I editing in postmortem and living human brain

This study compares A-to-I RNA editing in postmortem and living human brain tissues, revealing significant differences in editing levels and their association with cellular processes and neurological conditions.

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions

This paper introduces a CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency that mirrors human phenotypes, including cognitive impairments and epilepsy, and identifies synaptic transmission deficits.