Stacie K. Loftus

This study shows that reducing sAC activity restores pigmentation in OCA models and increases melanin synthesis, suggesting targeting melanosome pH as a therapeutic strategy for OCA and skin cancer risk.

This study shows that disrupting a Snca enhancer in mice reduces Snca expression and protects against Parkinson's disease pathology and motor impairments.

The paper identifies ampyrone as a direct activator of human tyrosinase, showing increased catalytic activity and melanin synthesis in melanocytes and skin cultures, suggesting potential therapeutic use for hypopigmentation disorders.

The paper analyzes pigmentation phenotypes in UK Biobank using DISSECT to identify new candidate genes and explore sex differences and geographic patterns in hair and skin color.

The paper identifies cell-type specific eQTLs in primary melanocytes, revealing novel melanoma susceptibility genes and associations with GWAS loci.