Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations

J Dermatol Sci. 2021 Jan;101(1):69-71. doi: 10.1016/j.jdermsci.2020.10.003. Epub 2020 Oct 6.

Authors

Tomohiro Nohara¹, Yusuke Ohno², Akio Kihara³

Affiliations

¹ Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan.
² Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan. Electronic address: yusuke-ohno@pharm.hokudai.ac.jp.
³ Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan. Electronic address: kihara@pharm.hokudai.ac.jp.

PMID: 33067036
DOI: 10.1016/j.jdermsci.2020.10.003

No abstract available

Publication types

Letter

MeSH terms

Ceramides / biosynthesis*
Cytochrome P-450 Enzyme System / genetics*
Cytochrome P-450 Enzyme System / metabolism
Endoplasmic Reticulum / enzymology
Eye Proteins / genetics
Eye Proteins / metabolism
HEK293 Cells
Humans
Ichthyosis, Lamellar / genetics*
Membrane Proteins / genetics
Membrane Proteins / metabolism
Mutation, Missense
Recombinant Proteins / genetics
Recombinant Proteins / metabolism
Severity of Illness Index
Sphingosine N-Acyltransferase / genetics
Sphingosine N-Acyltransferase / metabolism

Substances

Ceramides
ELOVL4 protein, human
Eye Proteins
Membrane Proteins
Recombinant Proteins
Cytochrome P-450 Enzyme System
CYP4F22 protein, human
CERS3 protein, human
Sphingosine N-Acyltransferase