Y. Miyaoka

Fusion of histone variants to Cas9 enhances homology-directed repair

This study fuses histone variants to Cas9 to enhance homology-directed repair (HDR) while suppressing non-homologous end joining (NHEJ), finding that H2A.1 improves the HDR/NHEJ ratio better than H2A.X.

In Vivo Delivery of Therapeutic Molecules by Transplantation of Genome-Edited Induced Pluripotent Stem Cells

This study shows genome-edited iPSCs can secrete therapeutic molecules to treat Fabry disease in mice.

Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes

This study uses patient-derived iPSCs to identify retinoids as potential therapeutics for Wilson's disease by rescuing ceruloplasmin secretion and reducing oxidative stress.

Genome Editing Is Induced in a Binary Manner in Single Human Cells

This study uses single-cell isolation to show genome editing in human cells occurs in a binary manner, with all target alleles edited or none edited.

Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies

This study investigates how RBM20 mutations affect splicing and ribonucleoprotein granules in cardiomyopathy, revealing distinct pathogenic mechanisms between missense and knockout mutations.