Nobuyuki Eura

This study compares CRISPR/Cas9-targeted nanopore sequencing approaches for characterizing repeat expansions in DM1 and OPDM, showing the impact of basecalling strategies and identifying somatic mosaicism and hypermethylation.

This study shows zinc finger domains bind low-complexity domain polymers in a cross-β-dependent manner, suppressing polymer formation and preferentially recognizing polymeric LC domains.

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.

The paper identifies SNUPN variants causing spinocerebellar atrophy by disrupting splicing in Purkinje cells through impaired U1 snRNP nuclear transport.

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

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