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)

A concise review of the ultrastructural features and physiological properties of eosinophils is presented with the aim of delineating those properties of eosinophils that set them apart from other granulocytes. It has become clear that eosinophols are subject to chemotaxis by attractants that do not affect other cells (e.g., histamine, ECF-A, ESP) and that they contain antiflogistic agents (arylsulfatase IIB, peroxidase) that neutralize specific substances known to elicit the inflammatory response. The mechanisms underlying eosinophilia in a variety of cutaneous disorders are analyzed in the light of this information.
J Invest Dermatol 1978 Jul
PMID:Eosinophil function related to cutaneous disorders. 35 61

X-linked ichthyosis has been shown to be associated with the deficiency of the steroid sulfatase/arylsulfatase C. The molecular biological results are reviewed concerning the localization of the steroid sulfatase gene to the distal short arm of the X chromosome and the molecular defects of this gene in patients of X-linked ichthyosis. The conclusions are summarized for genetic counselling, carrier detection and prenatal diagnosis.
Dermatol Monatsschr 1989
PMID:[The genetics and molecular genetics of X-chromosomal recessive ichthyosis]. 265 3

A spontaneous, hypomelanotic variant (MI) of the highly melanotic transplantable hamster melanoma of Bomirski (Ma) is the subject of this report. Tyrosinase activity is 2-3 times higher, but melanin content significantly lower than in the parental Ma melanotic melanoma. Acid phosphatase activity is similar in both, but beta-glucuronidase and aryl-sulfatase A are 2-3 times higher in the hypomelanotic variant. Transplanted MI melanomas grow more slowly than the parental tumor, but metastasize with similar incidence and localization. Hypomelanotic variant melanoma cells, even those in grossly nonnecrotic parts of the transplants, show signs of low viability like swelling of the cytoplasm or cellular condensation, and disintegration. Autophagic vacuoles are numerous. They appear to be formed by enclosure of a portion of cytoplasm by cisternae of smooth endoplasmic reticulum or trans-Golgi network. These limiting cisternae contain tyrosinase as evidenced by deposition of electron dense reaction product on incubation with tyrosine or DOPA. Other sites of ultrastructural tyrosinase reaction are melanosomes and the smooth-surfaced cisternae and vesicles of the trans-Golgi network. We postulate the low cell viability, associated with autophagosome formation, is the cause for the growth retardation of the MI variant, and that the lower melanin content of these tyrosinase-rich cells is due to sequestration of a substantial portion of newly synthesized enzyme into autophagic vacuoles before it has the chance of being incorporated into melanosomes.
J Invest Dermatol 1987 Nov
PMID:Pathology and ultrastructural characteristics of a hypomelanotic variant of transplantable hamster melanoma with elevated tyrosinase activity. 311 4

Estrone (E1)-sulfatase and dehydroepiandrosterone (DHEA)-sulfatase activities were studied in human female epidermis. Skin specimens were obtained by abdominal or plantar biopsies. The apparent Michaelis-Menten constants for E1 and DHEA sulfatases were 35.2 microM and 8.7 microM, respectively. A substrate inhibition was only observed for DHEA sulfatase. Both sulfatases had an elevated temperature optimum (65 degrees C). The effect of inorganic salts was also tested. In normal epidermis, E1-sulfatase activity was constantly higher than DHEA-sulfatase activity, but no correlation between these activities was observed. On the other hand, E1- and DHEA-sulfatase activities were lower in plantar than in abdominal epidermis. In plantar epidermis of palmoplantar keratoderma, large variations in E1-sulfatase activity, but no significant variation in DHEA-sulfatase activity, were observed. In human epidermis, the findings were consistent with the existence of two different sulfatases: E1 sulfatase and DHEA sulfatase. It would also appear that sulfatase activities are not linked to the abnormal shedding of plantar stratum corneum in palmoplantar keratoderma.
Arch Dermatol Res 1985
PMID:Estrone- and dehydroepiandrosterone-sulfatase activities in human female epidermis. 316 Mar 10

Steroid sulfatase (STS)-deficient X-linked ichthyosis was diagnosed in a man with short stature and mental retardation. His generation includes five similarly affected male members. A translocation chromosome is segregating in this Newfoundland kindred. The proband's mother and grandmother have normal skin and are of normal intelligence. From his carrier mother, the proband inherited an X short arm (Xp) to Y long arm (Yq) translocation chromosome, with the entire Y short arm and the X short arm terminal segment deleted (Xp223-pter). His cells are completely deficient in STS activity, confirming assignment of the STS locus to Xp223-pter. Effective management of his ichthyosis included treatment with 6% salicylic acid gel under plastic occlusion and removal of the scales by scrubbing.
Arch Dermatol 1985 Dec
PMID:Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter. 386 97

Lipids and acid hydrolases have been characterized in a subcellular fraction, enriched with lamellar granules (LG), derived from fetal rat epidermis. This fraction contains 23% glycosyl ceramides and ceramides, 15% free sterols, and 34% phospholipids. The lipid/protein ratio is 2.0. The sterols and sphingolipids were present in proportions similar to those previously reported in stratum corneum. These findings provide direct biochemical evidence for the widely accepted hypothesis that stratum corneum lipids are derived from exocytosis of lamellar granules into the intercellular space. The LG fraction was enriched in certain acid hydrolases including glucosidase, acid phosphatase, phospholipases A, and sphingomyelinase; other acid hydrolases, i.e., amino-glycosidases, glactosidase and aryl sulfatase (pH 5.5), and steroid sulfatase were not preferentially localized in this fraction. By modulation of phospholipids, glycolipids, and proteins in the membrane regions of stratum corneum, the acid hydrolases of LG may play a role relevant to the function and desquamation of stratum corneum.
J Invest Dermatol 1985 Oct
PMID:Lipid composition and acid hydrolase content of lamellar granules of fetal rat epidermis. 404 18

Children and adults with recessive X-linked ichthyosis have elevated levels of cholesterol sulfate, a substrate of the deficient enzyme microsomal sulfatase, in blood, erythrocyte membrane, and ichthyotic scale. We investigated cholesterol sulfate levels in patients with microsomal sulfatase deficiency before birth in amniotic fluid and in maternal plasma and erythrocytes, in cord blood (plasma and erythrocytes), and in plasma in the first month of life before and after onset of skin symptoms. Levels in amniotic fluid and cord blood were elevated. The plasma levels in the first month, before as well as after onset of skin symptoms, were within the range found in older patients with manifest skin symptoms.
Pediatr Dermatol 1985 Nov
PMID:Early diagnosis of recessive X-linked ichthyosis: elevation of cholesterol sulfate levels in placental sulfatase deficiency before the onset of skin symptoms. 407 88

It has previously been shown that enzymatically hydrolyzed urine of patients with malignant melanoma contains 5,6-dihydroxyindole (5, 6DHI ). In this study we describe the elucidation of the entire structure of urinary 5, 6DHI -conjugate. Differential hydrolysis of melanotic urine revealed that, in contrast to beta-glucuronidase, sulfatase can liberate 5, 6DHI from its conjugated form. 5, 6DHI -sulfate was synthetized by reacting 5, 6DHI with sulfur trioxide trimethylamine complex. Thin-layer chromatography (TLC) documented its close similarity to the Thorm ahlen -positive compound usually entitled "C." Gas chromatographic-mass spectrometric (GC-MS) analysis of methylated and subsequently hydrolyzed synthetic 5, 6DHI -sulfate showed that the synthetic product consisted of a mixture of 5-hydroxy-6-indolyl-O-sulfate and 6-hydroxy-5-indolyl-O-sulfate (with a certain amount of 5, 6DHI -disulfate). 5, 6DHI -sulfate was purified with use of DEAE-cellulose column chromatography from melanotic urine. Methylation of this conjugate with deuterated dimethylsulfate and subsequent GC-MS analysis of the hydrolyzed product provided evidence that 5, 6DHI from melanotic urine was almost exclusively sulfated in position 6. It was concluded (1) that 5, 6DHI is excreted as a 6-O-sulfate, and (2) that this compound is consistent with Thorm ahlen -positive compound "C".
J Invest Dermatol 1984 Jun
PMID:Identification of 5-hydroxy-6-indolyl-O-sulfate in urine of patients with malignant melanoma. 654 57

Rat mast cell granules contain a spectrum of enzymes as established by histochemical techniques and subcellular fractionation. However, 35% of the beta-glucuronidase, 30% of the beta-D-galactosidase, 14% of the beta-hexosaminidase and all of the acid phosphatase is not available for immunologic release from purified rat serosal mast cells, suggesting the presence of nonsecretory lysosomes containing these acid hydrolases. On the other hand, immunologic release of the majority of chymase, beta-hexosaminidase, beta-glucuronidase, beta-D-galactosidase, and arylsulfatase A occurs in parallel with histamine and thereby localizes these substances to the rat mast cell secretory granule. A molecular model of the secretory granule in the resting mast cell can now be constructed in which heparin proteoglycan is the granule matrix to which chymase and probably other proteins are ionically bound. Inhibition of chymase by serotonin stored in its active site and of chymase and acid hydrolases by their interaction with heparin probably occurs. Histamine is stored by ionic linkage to carboxyl groups of protein and heparin. Micromolar amounts of heparin glycosaminoglycans, histamine, serotonin, chymase, beta-D-hexosaminidase, beta-glucuronidase, and arylsulfatase A in secretory granules of 10(6) mast cells are 0.7--1.3 x 10(-3), 70--220 x 10(-3), 0.9--28 x 10(-3), 0.2--0.5 x 10(-3), 0.9--2.7 x 10(-6), 0.1--0.3 x 10(-6) and less than 8 x 10(-6), respectively. In addition, the total protein available for calcium ionophore-induced release from 10(6) rat mast cells is about 60 microgram, indicating that less than 50% of the granule protein can be accounted for. Recognition that mast cell secretory granules contain acid hydrolases indicates that they are modified lysosomes; their special intracellular and extracellular functions are dictated by the associated novel constituents and the stimulus for activation.
J Invest Dermatol 1980 May
PMID:Enzymes of the mast cell granule. 677 34

Chromosome X is one of the best genetically defined. Many disease loci are assigned to this chromosome, due to the peculiar mode of inheritance of X-linked disorders. Chromosome X undergoes X-inactivation in females. Recombination with chromosome Y occurs at pseudoautosomal regions. Some features of X-linked genodermatoses are a consequence of these phenomenons: variable expression, topography following Blaschko's lines. This can be seen in incontinentia pigmenti, focal dermal hypoplasia or hypohidrotic ectodermal dysplasia. Deletions at the pseudoautosomal region may cause contiguous gene syndromes. Hence ichthyosis with steroid-sulfatase deficiency may occur in association with various disorders. Transmitting females should be recognized by clinical examination or molecular studies, as this represents the main point in genetic counselling.
Ann Dermatol Venereol 1995
PMID:[X-linked genodermatoses]. 852 9


1 2 Next >>