Philippa B. Mills

This paper develops a pipeline to identify and evaluate novel manganese chelators using zebrafish and mouse models, finding that H3PyC3A and Me3PyC3A show improved manganese mobilization and reduced accumulation.

RAPID uses targeted long-read RNA sequencing to resolve splice variants in rare disease cases, providing functional evidence for diagnosis and variant interpretation.

The paper uses long-read RNA sequencing to analyze CLN3 transcription complexity and the impact of a common 1-kb deletion in juvenile CLN3 disease, revealing multiple transcripts and isoforms.

This study shows that mRNA therapy restores ureagenesis and glutathione metabolism in ASL-deficient mice, correcting liver disease and neurocognitive impairments.

This study shows that activating autophagy via Beclin-1 improves biochemical and clinical outcomes in two types of urea cycle disorders.

This paper demonstrates that gene therapy using AAV8 vector corrects urea cycle and citrulline-NO cycle defects in ASL-deficient mice, reducing neuronal disease and improving behavior.