ArticlePloS one2016
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 36 citations in OpenAlex.
- ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis.Veterinary dermatology · 2026Article
- Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing.The Journal of pathology · 2026Review
- Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review.Clinical case reports · 2025Article
- Hair follicles modulate skin barrier function.Cell reports · 2024Article
- Hair follicles modulate skin barrier function.bioRxiv : the preprint server for biology · 2024Article
- Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs.Frontiers in pharmacology · 2023Review
- Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature.Children (Basel, Switzerland) · 2022Review
- Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature.Pediatric rheumatology online journal · 2021Review
- Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.BMC medical genomics · 2021Article
- Experimental Models for the Study of Hereditary Cornification Defects.Biomedicines · 2021Review
- 3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.The Journal of clinical investigation · 2020Article
- Ichthyosis: A Road Model for Skin Research.Acta dermato-venereologica · 2020Review
- Congenital ichthyosiform erythroderma with a novel variant inPediatric investigation · 2020Article
- Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope.The Journal of investigative dermatology · 2019Review
- Activation of S6 signaling is associated with cell survival and multinucleation in hyperplastic skin after epidermal loss of AURORA-A Kinase.Cell death and differentiation · 2019Article
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.The American journal of pathology · 2018Article
- Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.American journal of clinical dermatology · 2018Review
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
Abstract
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the Abca12 RNA transcript. Homozygous mutants of this smooth skin or smsk allele die perinatally with shiny translucent skin, typical of animal models of Harlequin Ichthyosis. Characterization of smsk mutant skin showed that the delivery of glucosylceramides and CORNEODESMOSIN was defective, while ultrastructural analysis revealed abnormal lamellar bodies and the absence of lipid lamellae in smsk epidermis. Unexpectedly, mutant stratum corneum remained intact when subjected to harsh chemical dissociation procedures. Moreover, both KALLIKREIN 5 and -7 were drastically decreased, with retention of desmoplakin in mutant SC. In cultured wild type keratinocytes, both KALLIKREIN 5 and -7 colocalized with ceramide metabolites following calcium-induced differentiation. Reducing the intracellular levels of glucosylceramide with a glucosylceramide synthase inhibitor resulted in decreased secretion of KALLIKREIN proteases by wild type keratinocytes, but not by smsk mutant keratinocytes. Together, these findings suggest an essential role for ABCA12 in transferring not only lipids, which are required for the formation of multilamellar structures in the stratum corneum, but also proteolytic enzymes that are required for normal desquamation. Smsk mutant mice recapitulate many of the pathological features of HI and can be used to explore novel topical therapies against a potentially lethal and debilitating neonatal disease.
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Registered trials
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