Michael Schmidt

A transcriptional biosensor reveals mechanisms of α-ketoglutarate signaling to chromatin

The paper develops a biosensor to monitor α-ketoglutarate in human cells and identifies a mitochondrial-to-nuclear pathway regulating chromatin methylation.

Endosome maturation is orchestrated by inside-out proton signaling through a Na+/H+ exchanger and pH-dependent Rab GTPase cycling

The paper shows that endosome maturation is regulated by proton signaling through NHE6 and pH-dependent Rab7 cycling, with implications for neurodegeneration.

Dysregulation of The Chromatin Environment Leads to Differential Alternative Splicing as A Mechanism Of Disease In a Human Model of Autism Spectrum Disorders

This study shows that VPA exposure alters chromatin environment, leading to changes in alternative splicing and gene expression in human cortical neurons, which may contribute to ASD pathogenesis.

Correction of a pathogenic mutation in iPSCs derived from a patient with Christianson syndrome using CRISPR/Cas9 genome editing

This paper corrects a pathogenic mutation in iPSCs from a Christianson syndrome patient using CRISPR/Cas9, resulting in functional NHE6 protein expression.

Human neurons from Christianson syndrome iPSCs reveal allele-specific responses to rescue strategies

The paper uses iPSC-derived neurons from Christianson syndrome patients to show allele-specific responses to rescue strategies, highlighting the need for personalized therapeutic approaches.