Article
Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.
The American journal of pathology - 1 Jun 2018
Mauldin Elizabeth A, Crumrine Debra, Casal Margret L, Jeong Sekyoo, Opálka Lukáš, Vavrova Katerina, Uchida Yoshikazu, Park Kyungho, Craiglow Brittany, Choate Keith A, Shin Kyong-Oh, Lee Yong-Moon, Grove Gary L, Wakefield Joan S, Khnykin Denis, Elias Peter M
Abstract excerpt
Mutations in several lipid synthetic enzymes that block fatty acid and ceramide production produce autosomal recessive congenital ichthyoses (ARCIs) and associated abnormalities in permeability barrier homeostasis. However, the basis for the phenotype in patients with NIPAL4 (ichthyin) mutations (among the most prevalent ARCIs) remains unknown. Barrier function was abnormal in an index patient and in canines with...
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