Kazuma Sugie

The paper investigates how genetic and epigenetic variations in CGG repeats affect OPDM patient phenotypes, finding complex relationships between repeat size, sequence context, and methylation.

This study identifies Kapβ2 as a target of DPRs, showing how DPR binding alters its phase-modifying function, leading to toxic RBP condensates in ALS models.

The paper identifies three distinct cell populations in human kidney tubules involved in urate handling, showing heterogeneity in transporter expression and function.

This study compares single-cell transcriptomes of human brainstem and midbrain organoids, identifying unique cell types and similarities with fetal midbrain data.

This study examines the effect of oxygen-glucose deprivation and reoxygenation on human cerebral organoids, identifying 15 downregulated genes and pathways related to lipid metabolism and ischemic injury mechanisms.

This study develops human brainstem organoids containing neural crest cells and various neuron types, validated by single-cell RNA sequencing, proteomics, and electrophysiology.

This study shows that PR poly-dipeptides from C9orf72 repeat expansion bind Kapβ2 and disrupt FUS droplet melting, contributing to nucleocytoplasmic transport deficits in ALS.