Publications

Frisso G et al. A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.Mol Genet Metab, 2017. 121(4): p. 329–335. PMID: 28673550.

He M et al. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.J Clin Invest, 2011. 121(3): p. 976–84. PMID: 21285510.

He M et al. The role of sterol-C4-methyl oxidase in epidermal biology.Biochim Biophys Acta, 2014. 1841(3): p. 331–5. PMID: 24144731.

Kalay Yildizhan I et al. New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.Cytogenet Genome Res, 2020. 160(9): p. 523–530. PMID: 33161406.

Sato Y et al. Role of dipeptidyl peptidase IV (DPP4) in the development of dyslipidemia: DPP4 contributes to the steroid metabolism pathway.Life Sci, 2011. 88(1-2): p. 43–9. PMID: 21047519.