Louise A. Stephen

This study identifies a critical role for Prpf8 in cardiac development through aberrant splicing of Tead1 and disrupted Notch signaling in Prpf8N1531S homozygous mutant mice.

This study investigates the synergistic roles of TNAP and PHOSPHO1 in postnatal bone mineralisation using a novel murine knockout model, revealing their critical function in biomineralisation and skeletal development.

This study characterizes the proteome of matrix vesicles from primary osteoblasts, revealing a heterogeneous population with features of both exosomal and ectosomal biogenesis.

This study identifies PRPF8 as essential for left-right organiser cilia function and cardiac asymmetry by regulating ARL13B splicing in mice and zebrafish.

This study identifies mitochondrial dysfunction and impaired mitophagy in CKD-MBD as contributors to renal osteodystrophy, showing reversible effects with rapamycin treatment.

This study shows that increased PHOSPHO1 expression in renal osteodystrophy contributes to increased cortical bone mineral density but decreased trabecular bone density.