ArticlePLoS genetics2008
A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis.
Article in PLoS genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 104 citations in OpenAlex.
- Trial
- Reconstituted high-density lipoprotein infusion modulates fatty acid metabolism in patients with type 2 diabetes mellitus.Journal of lipid research · 2011Trial
- ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis.Veterinary dermatology · 2026Article
- Hair follicles modulate skin barrier function.Cell reports · 2024Article
- Hair follicles modulate skin barrier function.bioRxiv : the preprint server for biology · 2024Article
- Benefits of topical natural ingredients in epidermal permeability barrier.Frontiers in physiology · 2023Review
- The Balance between Differentiation and Terminal Differentiation Maintains Oral Epithelial Homeostasis.Cancers · 2021Review
- Experimental Models for the Study of Hereditary Cornification Defects.Biomedicines · 2021Review
- Topical Aminosalicylic Acid Improves Keratinocyte Differentiation in an Inducible Mouse Model of Harlequin Ichthyosis.Cell reports. Medicine · 2020Article
- 3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.The Journal of clinical investigation · 2020Article
- Loricrin: Past, Present, and Future.International journal of molecular sciences · 2020Review
- ABCA12 regulates insulin secretion from β-cells.EMBO reports · 2020Article
- A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment.Journal of molecular cell biology · 2019Article
- Genetic correlation of the plasma lipidome with type 2 diabetes, prediabetes and insulin resistance in Mexican American families.BMC genetics · 2017Article
- An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis.The Journal of allergy and clinical immunology · 2017Article
- Lipidomics in the Study of Hypertension in Metabolic Syndrome.Current hypertension reports · 2017Review
- Copper trafficking to the secretory pathway.Metallomics : integrated biometal science · 2016Review
- Article
- Keratin 76 is required for tight junction function and maintenance of the skin barrier.PLoS genetics · 2014Article
- Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.PLoS genetics · 2014Article
Corrections and comments
- Erratum issuedSlattery, Keith [corrected to Satterley, Keith]
Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Harlequin Ichthyosis (HI) is a severe and often lethal hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein. In keratinocytes, ABCA12 is thought to regulate the transfer of lipids into small intracellular trafficking vesicles known as lamellar bodies. However, the nature and scope of this regulation remains unclear. As part of an original recessive mouse ENU mutagenesis screen, we have identified and characterised an animal model of HI and showed that it displays many of the hallmarks of the disease including hyperkeratosis, loss of barrier function, and defects in lipid homeostasis. We have used this model to follow disease progression in utero and present evidence that loss of Abca12 function leads to premature differentiation of basal keratinocytes. A comprehensive analysis of lipid levels in mutant epidermis demonstrated profound defects in lipid homeostasis, illustrating for the first time the extent to which Abca12 plays a pivotal role in maintaining lipid balance in the skin. To further investigate the scope of Abca12's activity, we have utilised cells from the mutant mouse to ascribe direct transport functions to the protein and, in doing so, we demonstrate activities independent of its role in lamellar body function. These cells have severely impaired lipid efflux leading to intracellular accumulation of neutral lipids. Furthermore, we identify Abca12 as a mediator of Abca1-regulated cellular cholesterol efflux, a finding that may have significant implications for other diseases of lipid metabolism and homeostasis, including atherosclerosis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.