Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
作者: Elizabeth A. MauldinDebra CrumrineMargret L. CasalSekyoo JeongLukáš OpálkaKaterina VavrovaYoshikazu UchidaKyungho ParkBrittany CraiglowKeith A. ChoateKyong-Oh ShinYong-Moon LeeGary L. GroveJoan S. WakefieldDenis KhnykinPeter M. Elias
作者单位: 1Department of Dermatopathology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
2Dermatology Service, Veterans Affairs Medical Center, San Francisco, California
3Department of Dermatology, University of California, San Francisco, San Francisco, California
4Department of BioCosmetics, Seowon University, Cheongju, South Korea
5Department of Pharmacy, Charles University, Hradec Kralove, Czech Republic
6Department of Dermatology, Genetics, and Pathology, Yale University, New Haven, Connecticut
7College of Pharmacy, Chungbuk Natl University, Cheongju, South Korea
8Department of Research and Development, cyberDERM, Media, Pennsylvania
9Department of Pathology, Oslo University Hospital, Oslo, Norway
刊名: The American Journal of Pathology, 2018, Vol.188 (6), pp.1419-1429
来源数据库: Elsevier Journal
DOI: 10.1016/j.ajpath.2018.02.008
英文摘要: 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 homozygous NIPAL4 mutations, attributable to extensive membrane stripping, likely from detergent effects of nonesterified free fatty acid. Cytotoxicity compromised not only lamellar body secretion but also formation of the corneocyte lipid envelope (CLE) and attenuation of the cornified envelope (CE), consistent with a previously unrecognized, scaffold function of the CLE....
全文获取路径: Elsevier  (合作)
影响因子:4.522 (2012)