The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim
Author:
Funder
National Institutes of Health
Publisher
Oxford University Press (OUP)
Subject
Biochemistry
Link
http://academic.oup.com/glycob/article-pdf/27/5/450/19677661/cwx018.pdf
Reference27 articles.
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2. Differential expression and enzymatic properties of GalNAc-4-sulfotransferase-1 and GalNAc-4-sulfotransferase-2;Glycobiology,2005
3. Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line;J Cell Biol,1988
4. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome;Genomics,2012
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1. Genetic insights into carbohydrate sulfotransferase 8 and its impact on the immunotherapy efficacy of cancer;Cell Reports;2024-01
2. Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A;Journal of Investigative Dermatology;2018-08
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