Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.6.1 (sulfatase)
 3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The intramembranous disposition of arylsulfatase C [EC 3.1.6.1] was studied. The lack of stimulation by Triton X-100 of microsomal arylsulfatase C activity indicated the outside location of the active site of the enzyme in microsomal vesicles. The exposure of arylsulfatase C on the surface of microsomal vesicles was also suggested by the binding of antibodies against the purified enzyme to intact microsomes. However, larger amounts of the antibodies were bound to microsomes in the presence of a low concentration of Triton X-100, suggesting the presence of other antigenic sites of the enzyme not available to the antibodies in intact microsomes. The treatment of solubilized and microsome-bound arylsulfatase C with transglutaminase indicated two susceptible glutamine residues per subunit of the enzyme molecule. One of the glutamine residues was labeled with transglutaminase in intact microsomes, whereas the other one became available to transglutaminase only after the addition of Triton X-100 to microsomes. These observations suggested that endoglycosidase H-sensitive carbohydrate chains of arylsulfatase C are located in the lumen of microsomal vesicles. We conclude that microsomal arylsulfatase C is a transmembranous protein and exposed on both outer and inner surfaces of the membrane.
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PMID:Transmembranous disposition of arylsulfatase C in microsomal membranes of rat liver. 695 92

Cholesterol sulfate (CS) is widely distributed in mammalian tissues and various physiological roles for it have been suggested, but the presence of CS in the nasal tissues has not yet been reported. This is the first report in which the CS content and the activity of its regulatory enzymes, cholesterol sulfotransferase (CST) and cholesterol sulfate sulfatase (CSS), in the nasal mucosa of the guinea pig were examined and compared with those in the oral and tracheal mucosae. The highest concentration of CS was detected in the oral mucosa and the second highest in the nasal mucosa. The activity of CST was also highest in the oral mucosa and the second highest in the nasal mucosa. On the other hand, that of CSS was highest in the tracheal mucosa. The accumulation of CS is assumed to be related to squamous differentiation, because the activity of transglutaminase type 1 in the nasal, oral and tracheal mucosae coincided with the order of the concentration of CS in those tissues. These results suggested that the accumulation of CS is correlated with the morphological differences between the oral stratified squamous and the nasal or tracheal pseudostratified epithelium, and furthermore that the nasal epithelium is more susceptible to squamous metaplasia than the tracheal epithelium in the guinea pig.
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PMID:Significantly high synthetic activities of cholesterol sulfate in the nasal, oral and tracheal mucosae of guinea pigs. 878 84

Disorders of cornification are a group of diseases that share abnormalities in the manufacture or desquamation of corneocytes. This paper reviews the major and a few of the rarer ones with a concentration on their therapy. Ichthyosis vulgaris is probably a post-translational defect in pro-filaggrin expression. It shows fine white flaky scales of the extensor surfaces, trunk, flank, lower legs but spares the folds and wet areas. Treatment is with aggressive moisturization. Hydrocortisone creams may be needed to control itch. Recessive X-linked ichthyosis is due to a deficiency of cholesterol sulfatase. Boys with this condition show small dark scales around the ears, sides of the neck, extensor surfaces of the arms and legs, and the peri-umbilical region. It spares the folds and face. Treatment is with moisturizers, topical retinoid creams or with topical cholesterol-based creams. Checking for signs of contiguous gene disorders (Kallman or Conradi-Hunermann syndromes) is necessary. Bullous congenital ichthyosiform erythroderma is caused by mutations in keratins 1 and/or 10. These patients are born as bright red babies with large blisters and erosions. Slowly, a porcupine quill-like waxy scaling develops. Blistering continues throughout life. Secondary infections of the skin cause pain, debility, and a very foul odor. Treatment is difficult. Topical moisturizers, descalers and retinoid creams help a little. Oral retinoids help a lot but can cause increased blistering. Controlling the odor is an ongoing issue using antibacterial washes, absorbing powders, and masking fragrances. Autosomal recessive ichthyosis is a term for both lamellar ichthyosis and congenital ishthysosiform erythroderma. They are caused by various mutations in transglutaminase-1 gene. In both instances patients are born as 'collodion babies'. Lamella ichthyosis has the very recognizable plate-like scale over the entire body. Children with congenital ishthysosiform erythroderma are red all over with a finer scale in some places and plate-like scales in others. Treatment is with topical moisturizers, retinoid creams, descalers, and in some cases oral retinoids. Palmar plantar keratodermas occur in conjunction with some ichthyoses, but also by themselves. Some are diffuse and others have discrete, corn-like hardenings. Treatment with topical acids, propylene glycol and retinoid creams help to some extent.Throughout the article pearls from my practice are included to assist the clinician in the day-to-day handling of these patients. A short section on genetic counseling concludes this article.
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PMID:Disorders of keratinization: diagnosis and management. 1497 40