Masato Ohtsuka

Generation and characterization of phenylketonuria mouse models carrying East Asian–relevant patient-derived PAH mutations

Abstract Phenylketonuria (PKU) is an inherited metabolic disorder caused by mutations in the Pah gene, resulting in impaired phenylalanine hydroxylase activity and elevated blood phenylalanine levels. Although dietary management and enzyme replacement can reduce disease burden, t...

Revisiting the in vivo functions of coilin in mice: Requirement for snRNA modifications and formation of novel condensates in elongating spermatids

Cajal bodies (CBs), first identified in the early 20th century, are classic nuclear structures organized primarily by the protein coilin. Although CBs have long been implicated in snRNA modification and maturation, their precise roles in mice remain unclear. Here, we revisit the...