Document Detail

Harlequin ichthyosis unmasked: a defect of lipid transport.
MedLine Citation:
PMID:  16007249     Owner:  NLM     Status:  MEDLINE    
Harlequin ichthyosis (HI)--the most severe form of keratinizing disorders, often lethal in the neonatal period--is characterized by a profound thickening of the keratin skin layer, a dense "armor"-like scale that covers the body, and contraction abnormalities of the eyes, ears, and mouth. In this issue of the JCI, Akiyama et al. report that mutations in ABCA12 caused defective lipid transport that significantly impacted normal development of the skin barrier. Lipid secretion was recovered after corrective ABCA12 gene transfer into patient keratinocytes. These results should allow for early prenatal diagnosis of HI and lend hope to the possibility of a specific treatment for this devastating disorder.
Alain Hovnanian
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Publication Detail:
Type:  Comment; Journal Article; Review    
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  115     ISSN:  0021-9738     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  2005 Jul 
Date Detail:
Created Date:  2005-07-11     Completed Date:  2005-08-31     Revised Date:  2013-06-09    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1708-10     Citation Subset:  AIM; IM    
Department of Medical Genetics and INSERM U563, Purpan Hospital, Toulouse, France.
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MeSH Terms
ATP-Binding Cassette Transporters / genetics,  metabolism
Biological Transport, Active / genetics
Gene Transfer Techniques
Ichthyosis, Lamellar / diagnosis,  etiology*,  genetics,  metabolism*
Infant, Newborn
Keratinocytes / metabolism
Lipid Metabolism, Inborn Errors / complications*,  genetics,  metabolism
Models, Biological
Prenatal Diagnosis
Reg. No./Substance:
0/ABCA12 protein, human
Comment On:
J Clin Invest. 2005 Jul;115(7):1777-84   [PMID:  16007253 ]

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