Nobuyuki Eura

Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disorders

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.

Complex associations of genetic/epigenetic variations of CGG repeats with patient phenotypes in oculopharyngodistal myopathy

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.

Genetic SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in Purkinje cells

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

Comparative analysis of human brain organoids of brainstem and midbrain at single-cell resolution

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

Brainstem organoids from human pluripotent stem cells contain neural crest population

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