Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines

    March 2018 in “ American Journal Of Pathology ”
    Elizabeth A. Mauldin, Debra Crumrine, Margret L. Casal … Peter M. Elias
    Studysummary In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
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    Research cited in this study 1

    1. Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2014