Neutral glycosphingolipids that contain a monosaccharide, normally glucose or galactose, in 1-ortho-beta-glycosidic linkage with the primary alcohol of an N-acyl sphingoid (ceramide). In plants the monosaccharide is normally glucose and the sphingoid usually phytosphingosine. In animals, the monosaccharide is usually galactose, though this may vary with the tissue and the sphingoid is usually sphingosine or dihydrosphingosine. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1st ed)
An enzyme that catalyzes the hydrolysis of cerebroside 3-sulfate (sulfatide) to yield a cerebroside and inorganic sulfate. A marked deficiency of arylsulfatase A, which is considered the heat-labile component of cerebroside sulfatase, has been demonstrated in all forms of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.8.
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
An arylsulfatase with high specificity towards sulfated steroids. Defects in this enzyme are the cause of ICHTHYOSIS, X-LINKED.
An enzyme that specifically cleaves the ester sulfate of iduronic acid. Its deficiency has been demonstrated in Hunter's syndrome, which is characterized by an excess of dermatan sulfate and heparan sulfate. EC 3.1.6.13.
An enzyme from the sulfuric ester hydrolase class that breaks down one of the products of the chondroitin lyase II reaction. EC 3.1.6.9.
Enzymes that catalyze the hydrolysis of a phenol sulfate to yield a phenol and sulfate. Arylsulfatase A, B, and C have been separated. A deficiency of arylsulfatases is one of the causes of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.1.
An arylsulfatase that catalyzes the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. A deficiency of this enzyme is responsible for the inherited lysosomal disease, Maroteaux-Lamy syndrome (MUCOPOLYSACCHARIDOSIS VI). EC 3.1.6.12.
GLYCOSPHINGOLIPIDS with a sulfate group esterified to one of the sugar groups.
A group of enzymes that catalyze the hydrolysis of various sulfate bonds of chondroitin sulfate. EC 3.1.6.-.
Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.
Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.
Cerebrosides which contain as their polar head group a glucose moiety bound in glycosidic linkage to the hydroxyl group of ceramides. Their accumulation in tissue, due to a defect in beta-glucosidase, is the cause of Gaucher's disease.
Enzymes which transfer sulfate groups to various acceptor molecules. They are involved in posttranslational sulfation of proteins and sulfate conjugation of exogenous chemicals and bile acids. EC 2.8.2.
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
Chromatography on thin layers of adsorbents rather than in columns. The adsorbent can be alumina, silica gel, silicates, charcoals, or cellulose. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
A class of Echinodermata characterized by long, slender bodies.
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
A paleotropical genus of fungi in the family Tricholomataceae. They are obligate symbionts of termites.
Cerebrosides which contain as their polar head group a galactose moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in beta-galactosidase, is the cause of galactosylceramide lipidosis or globoid cell leukodystrophy.
An enzyme that catalyzes the conversion of UDP-galactose and N-acylsphingosine to D-galactosylceramide and UDP.
Fractionation of a vaporized sample as a consequence of partition between a mobile gaseous phase and a stationary phase held in a column. Two types are gas-solid chromatography, where the fixed phase is a solid, and gas-liquid, in which the stationary phase is a nonvolatile liquid supported on an inert solid matrix.
Any compound containing one or more monosaccharide residues bound by a glycosidic linkage to a hydrophobic moiety such as an acylglycerol (see GLYCERIDES), a sphingoid, a ceramide (CERAMIDES) (N-acylsphingoid) or a prenyl phosphate. (From IUPAC's webpage)
A genus of fleshy shelf basidiomycetous fungi, family Schizophyllaceae, order POLYPORALES, growing on woody substrata. It is pathogenic in humans.
A family of glycoprotein cofactors that are required for the efficient catabolization of SPHINGOLIPIDS by specific acid hydrolases such as GLUCOSYLCERAMIDASE; GALACTOCEREBROSIDASE; BETA-N-ACETYLHEXOSAMINIDASE; and CEREBROSIDE-SULFATASE.
Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
A class of membrane lipids that have a polar head and two nonpolar tails. They are composed of one molecule of the long-chain amino alcohol sphingosine (4-sphingenine) or one of its derivatives, one molecule of a long-chain acid, a polar head alcohol and sometimes phosphoric acid in diester linkage at the polar head group. (Lehninger et al, Principles of Biochemistry, 2nd ed)
Changes in the amounts of various chemicals (neurotransmitters, receptors, enzymes, and other metabolites) specific to the area of the central nervous system contained within the head. These are monitored over time, during sensory stimulation, or under different disease states.
A sebaceous gland that, in some animals, acts as an accessory to the lacrimal gland. The harderian gland excretes fluid that facilitates movement of the third eyelid.
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Lipids containing at least one monosaccharide residue and either a sphingoid or a ceramide (CERAMIDES). They are subdivided into NEUTRAL GLYCOSPHINGOLIPIDS comprising monoglycosyl- and oligoglycosylsphingoids and monoglycosyl- and oligoglycosylceramides; and ACIDIC GLYCOSPHINGOLIPIDS which comprises sialosylglycosylsphingolipids (GANGLIOSIDES); SULFOGLYCOSPHINGOLIPIDS (formerly known as sulfatides), glycuronoglycosphingolipids, and phospho- and phosphonoglycosphingolipids. (From IUPAC's webpage)
The lipid-rich sheath surrounding AXONS in both the CENTRAL NERVOUS SYSTEMS and PERIPHERAL NERVOUS SYSTEM. The myelin sheath is an electrical insulator and allows faster and more energetically efficient conduction of impulses. The sheath is formed by the cell membranes of glial cells (SCHWANN CELLS in the peripheral and OLIGODENDROGLIA in the central nervous system). Deterioration of the sheath in DEMYELINATING DISEASES is a serious clinical problem.
A group of four homologous sphingolipid activator proteins that are formed from proteolytic cleavage of a common protein precursor molecule referred to as prosaposin.
Organic, monobasic acids derived from hydrocarbons by the equivalent of oxidation of a methyl group to an alcohol, aldehyde, and then acid. Fatty acids are saturated and unsaturated (FATTY ACIDS, UNSATURATED). (Grant & Hackh's Chemical Dictionary, 5th ed)
A genus of STARFISH in the family Asteriidae. One species, Asterias rubens, is the most common in the north-east Atlantic region.
Inorganic and organic derivatives of sulfuric acid (H2SO4). The salts and esters of sulfuric acid are known as SULFATES and SULFURIC ACID ESTERS respectively.
An intermediate in the biosynthesis of cerebrosides. It is formed by reaction of sphingosine with UDP-galactose and then itself reacts with fatty acid-Coenzyme A to form the cerebroside.
Compounds possessing both a hydroxyl (-OH) and an amino group (-NH2).
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
A subclass of ACIDIC GLYCOSPHINGOLIPIDS. They contain one or more sialic acid (N-ACETYLNEURAMINIC ACID) residues. Using the Svennerholm system of abbrevations, gangliosides are designated G for ganglioside, plus subscript M, D, or T for mono-, di-, or trisialo, respectively, the subscript letter being followed by a subscript arabic numeral to indicated sequence of migration in thin-layer chromatograms. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1997)
Organic compounds containing both the hydroxyl and carboxyl radicals.
Loss of water by diffusion through the skin and by evaporation from the respiratory tract.
Glycosphingolipids which contain as their polar head group a lactose moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in lactosylceramide beta-galactosidase, is the cause of lactosylceramidosis.
Members of the class of neutral glycosphingolipids. They are the basic units of SPHINGOLIPIDS. They are sphingoids attached via their amino groups to a long chain fatty acyl group. They abnormally accumulate in FABRY DISEASE.
An aromatized C18 steroid with a 3-hydroxyl group and a 17-ketone, a major mammalian estrogen. It is converted from ANDROSTENEDIONE directly, or from TESTOSTERONE via ESTRADIOL. In humans, it is produced primarily by the cyclic ovaries, PLACENTA, and the ADIPOSE TISSUE of men and postmenopausal women.
A plant genus of the family STERCULIACEAE. S. urens is the source of KARAYA GUM which is sometimes called Indian tragacanth, which is different from the true TRAGACANTH which comes from ASTRAGALUS GUMMIFER.
Glycosphingolipids containing N-acetylglucosamine (paragloboside) or N-acetylgalactosamine (globoside). Globoside is the P antigen on erythrocytes and paragloboside is an intermediate in the biosynthesis of erythrocyte blood group ABH and P 1 glycosphingolipid antigens. The accumulation of globoside in tissue, due to a defect in hexosaminidases A and B, is the cause of Sandhoff disease.
Differentiated tissue of the central nervous system composed of NERVE CELLS, fibers, DENDRITES, and specialized supporting cells.

Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases. (1/165)

Sulfatases carry at their catalytic site a unique post-translational modification, an alpha-formylglycine residue that is essential for enzyme activity. Formylglycine is generated by oxidation of a conserved cysteine or, in some prokaryotic sulfatases, serine residue. In eukaryotes, this oxidation occurs in the endoplasmic reticulum during or shortly after import of the nascent sulfatase polypeptide. The modification of arylsulfatase A was studied in vitro and was found to be directed by a short linear sequence, CTPSR, starting with the cysteine to be modified. Mutational analyses showed that the cysteine, proline and arginine are the key residues within this motif, whereas formylglycine formation tolerated the individual, but not the simultaneous substitution of the threonine or serine. The CTPSR motif was transferred to a heterologous protein leading to low-efficient formylglycine formation. The efficiency reached control values when seven additional residues (AALLTGR) directly following the CTPSR motif in arylsulfatase A were present. Mutating up to four residues simultaneously within this heptamer sequence inhibited the modification only moderately. AALLTGR may, therefore, have an auxiliary function in presenting the core motif to the modifying enzyme. Within the two motifs, the key residues are fully, and other residues are highly conserved among all known members of the sulfatase family.  (+info)

Amino acid residues forming the active site of arylsulfatase A. Role in catalytic activity and substrate binding. (2/165)

Arylsulfatase A belongs to the sulfatase family whose members carry a Calpha-formylglycine that is post-translationally generated by oxidation of a conserved cysteine or serine residue. The formylglycine acts as an aldehyde hydrate with two geminal hydroxyls being involved in catalysis of sulfate ester cleavage. In arylsulfatase A and N-acetylgalactosamine 4-sulfatase this formylglycine was found to form the active site together with a divalent cation and a number of polar residues, tightly interconnected by a net of hydrogen bonds. Most of these putative active site residues are highly conserved among the eukaryotic and prokaryotic members of the sulfatase family. To analyze their function in binding and cleaving sulfate esters, we substituted a total of nine putative active site residues of human ASA by alanine (Asp29, Asp30, Asp281, Asn282, His125, His229, Lys123, Lys302, and Ser150). In addition the Mg2+-complexing residues (Asp29, Asp30, Asp281, and Asn282) were substituted conservatively by either asparagine or aspartate. In all mutants Vmax was decreased to 1-26% of wild type activity. The Km was more than 10-fold increased in K123A and K302A and up to 5-fold in the other mutants. In all mutants the pH optimum was increased from 4.5 by 0.2-0.8 units. These results indicate that each of the nine residues examined is critical for catalytic activity, Lys123 and Lys302 by binding the substrate and the others by direct (His125 and Asp281) or indirect participation in catalysis. The shift in the pH optimum is explained by two deprotonation steps that have been proposed for sulfate ester cleavage.  (+info)

Phosphorylation of arylsulphatase A occurs through multiple interactions with the UDP-N-acetylglucosamine-1-phosphotransferase proximal and distal to its retrieval site by the KDEL receptor. (3/165)

Phosphorylation of oligosaccharides of the lysosomal enzyme arylsulphatase A (ASA), which accumulate in the secretions of cells that mis-sort most of the newly synthesized lysosomal enzymes due to a deficiency of mannose 6-phosphate receptors, was found to be site specific. ASA residing within the secretory route of these cells contains about one third of the incorporated [2-3H]mannose in phosphorylated oligosaccharides. Oligosaccharides carrying two phosphate groups are almost 2-fold less frequent than those with one phosphate group and only a few of the phosphate groups are uncovered. Addition of a KDEL (Lys-Asp-Glu-Leu) retention signal prolongs the residence time of ASA within the secretory route 6-fold, but does not result in more efficient phosphorylation. In contrast, more than 90% of the [2-3H]mannose incorporated into secreted ASA (with or without a KDEL retention signal) is present in phosphorylated oligosaccharides. Those with two phosphate groups are almost twice as frequent as those with one phosphate group and most of the phosphate groups are uncovered. Thus, ASA receives N-acetylglucosamine 1-phosphate groups in a sequential manner at two or more sites located within the secretory route proximal and distal to the site where ASA is retrieved by the KDEL receptor, i.e. proximal to the trans-Golgi. At each of these sites up to two N-acetylglucosamine 1-phosphate groups can be added to a single oligosaccharide. Of several drugs known to inhibit transit of ASA through the secretory route only the ionophore monensin had a major inhibitory effect on phosphorylation, uncovering and sialylation.  (+info)

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals. (4/165)

Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<--G mutations were detected, corresponding to a frequency of 1.17% (4 of 324 alleles). The individual frequency of the N350S mutation was 20.7% (71 of 342 alleles) and 7.9% (27 of 342 alleles) for the 1524+95A<--G mutation. The frequency of the ASA-PD allele in our population was estimated to be 7.9%. This is the first report of ASA-PD allele frequency in a South American population. In addition, the methods used are effective and suitable for application in countries with limited resources. All patients with low ASA activity should be screened for ASA-PD as part of the diagnostic protocol for metachromatic leukodystrophy.  (+info)

Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy). (5/165)

Umbilical cord blood (UCB) has received increasing attention as a source of unrelated hematopoietic stem cells for transplantation. Lysosomal diseases have been effectively treated and normal enzymatic activity has occurred subsequent to engraftment using UCB. The use of donor cells with normal amounts of enzyme, rather than those from carriers whose level may be 50% or less, is an obvious goal. The frequency of such heterozygotes varies from 1:10 to 1:140 or lower depending upon the disease at issue. We assayed the levels of lysosomal enzymes in normal UCB in random samples as well as those used for transplantation. We measured the following enzymatic activities: alpha-l-iduronidase (Hurler), galactocerebrosidase (globoid cell leuko- dystrophy) and arylsulfatase A (metachromatic leukodystrophy). For the latter, levels of activity in UCB are comparable to those found in adult blood. In the case of arylsulfatase B (Maroteaux-Lamy) a level lower than adult level was found. An informed choice by the transplanting physician based on the activity of the relevant enzyme in the UCB donor will provide a better opportunity for an improved prognosis for more complete correction of the recipient's primary disease. Bone Marrow Transplantation (2000) 25, 541-544.  (+info)

High-mannose-type oligosaccharides from human placental arylsulfatase A are core fucosylated as confirmed by MALDI MS. (6/165)

Despite numerous studies on arylsulfatase A, the structure of its glycans is not well understood. It has been shown that the concentration of arylsulfatase A increases in the body fluids of patients with some forms of cancer, and the carbohydrate component of arylsulfatase A synthesized in tumor tissues and transformed cells undergoes increased sialylation, phosphorylation and sulfation. To understand the significance of any changes in the glycosylation of arylsulfatase A in cancer, it is important to know the structure of its carbohydrate component in normal tissue. In the present study we have analyzed carbohydrate moieties of human placental arylsylfatase A using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) followed by Western blotting on Immobilon P and on-blot deglycosylation using PNGase F for glycan release. Profiles of N-glycans were obtained by matrix-assisted laser desorption/ionization mass spectrometry (MALDI MS). Oligosaccharides were sequenced using specific exoglycosidases, and digestion products were analyzed by MALDI MS and the computer matching of the resulting masses with those derived from a sequence database. Fifty picomoles (6 microg) of arylsulfatase A applied to the gel were sufficient to characterize its oligosaccharide content. The results indicated that human placental arylsulfatase A possesses only high-mannose-type oligosaccharides, of which almost half are core fucosylated. In addition, there was a minor species of high-mannose-type glycan bearing six mannose residues with a core fucose. This structure was not expected since high-mannose-type oligosaccharides basically have not been recognized as a substrate for the alpha1,6-fucosyltransferase.  (+info)

Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells. (7/165)

A deficiency of arylsulfatase A (ASA) causes the lysosomal storage disease metachromatic leukodystrophy (MLD) which is characterized primarily by demyelination of the central nervous system. ASA-deficient mice develop a disease which resembles MLD in many respects and thus serve as an appropriate animal model for this disease. To establish gene therapy protocols for ASA-deficient mice, we constructed two retroviral vectors based on the murine stem cell virus. Both vectors harbor the human ASA cDNA controlled by the retroviral promoter/enhancer element, but differ by the presence or absence of a neomycin resistance gene driven by an internal promoter. A comparative analysis of the one- versus the two-gene vector and an amphotropic versus an ecotropic producer cell line revealed that the amphotropic producer cell line for the one-gene vector transfers ASA overexpression to the target cells most efficiently. The human ASA encoded by this vector is correctly expressed in heterologous mouse cells and corrects the metabolic defect of transduced ASA-deficient murine cells. The constructed one-gene vector might thus be a potentially useful tool for the development of a gene-based therapy for ASA-deficient mice. Gene Therapy (2000) 7, 805-812.  (+info)

Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes. (8/165)

This study was designed to evaluate the effect of different conditions of collection, transport and storage on the quality of blood samples from normal individuals in terms of the activity of the enzymes ss-glucuronidase, total hexosaminidase, hexosaminidase A, arylsulfatase A and ss-galactosidase. The enzyme activities were not affected by the different materials used for collection (plastic syringes or vacuum glass tubes). In the evaluation of different heparin concentrations (10% heparin, 5% heparin, and heparinized syringe) in the syringes, it was observed that higher doses resulted in an increase of at least 1-fold in the activities of ss-galactosidase, total hexosaminidase and hexosaminidase A in leukocytes, and ss-glucuronidase in plasma. When the effects of time and means of transportation were studied, samples that had been kept at room temperature showed higher deterioration with time (72 and 96 h) before processing, and in this case it was impossible to isolate leukocytes from most samples. Comparison of heparin and acid citrate-dextrose (ACD) as anticoagulants revealed that ss-glucuronidase and hexosaminidase activities in plasma reached levels near the lower normal limits when ACD was used. In conclusion, we observed that heparin should be used as the preferable anticoagulant when measuring these lysosomal enzyme activities, and we recommend that, when transport time is more than 24 h, samples should be shipped by air in a styrofoam box containing wet ice.  (+info)

Although arylsulfatase A pseudodeficiency is characterized as a disease, about 1-2% of any population of clinically healthy people have two copies of the ARSA pseudodeficiency allele, identified by rs6151429. This does lead to low levels of arylsulfatase (ARSA).[PMID 1678251 ...
1AUK: Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.
A pseudodeficiency allele or pseudodeficiency mutation is a mutation that alters the protein product or changes the genes expression, but without causing disease. For example, in the lysosomal storage diseases, patients with a pseudodeficiency allele show greatly reduced enzyme activity, yet they remain clinically healthy. In medical genetics, a false positive result occurs in an enzyme assay test when test results are positive, but disease or morbidity is not present. One possible cause of false positive results is a pseudodeficiency allele. Disease may also be present, but at a subclinical level. Tay-Sachs disease. Enzyme assay testing was especially effective among Ashkenazi Jews because fewer pseudodeficiency alleles are found in this population, as compared with the general population. Carrier screening has not been as reliable in the general population. Metachromatic leukodystrophy. Low arylsulphatase A activity can occur in healthy individuals. This poses a challenge in genetic testing, ...
Metachromatic leukodystrophy. Metachromatic leukodystrophy (MLD) is an autosomal recessive inherited disorder in which the desulfation of 3-0-sulfogalactosyl-containing glycolipids by arylsulfatase A (ASA) is defective. The clinical onset and severity of MLD is variable. The late infantile form typically presents in the second year of life, the juvenile form presents between age 4 and puberty, and the adult form may present at any age after puberty. Gait disturbance and mental regression are the earliest signs. Depending on the variant, other symptoms include blindness, seizures, and behavioral disturbances. Diagnosis of MLD is complicated by the fact that significant reduction of ASA activity may not prove MLD and that its presence does not exclude it. Significant reduction of ASA activity is observed in individuals homozygous for the pseudodeficiency allele. Normal ASA activity is observed in MLD patients with a deficiency of saposin B. Residual activity can be detected in patients with late ...
Radiant Insights, Inc latest Pharmaceutical and Healthcare disease pipeline guide Metachromatic Leukodystrophy (MLD) - Pipeline Review, H2 2016, provides an overview of the Metachromatic Leukodystrophy (MLD) (Central Nervous System) pipeline landscape. Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. Symptoms include vision problems leading to blindness, personality…
Metachromatic leukodystrophy (MLD, also called arylsulfatase A deficiency) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. MLD involves cerebroside sulfate accumulation. Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern. Like many other genetic disorders that affect lipid metabolism, there are several forms of MLD, which are late infantile, juvenile, and adult. In the late infantile form, which is the most common form of MLD (50-60%), affected children begin having difficulty walking after the first year of life, usually at 15-24 months. Symptoms include muscle wasting and weakness, muscle rigidity, developmental delays, ...
Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies. These diseases impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of varying lipids (75%) and proteins (25%). The leukodystrophies are caused by genetic defects in myelin production or metabolization of the compounds of the myelin sheath. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the enzymes responsible for creating or degrading a part of the myelin. MLD is caused by a deficiency of the enzyme arylsulfatase A. MLD is one of several lipid storage diseases, which results in the toxic build-up of fatty materials (lipids) in cells in the nervous system, liver, and kidneys. There are three forms of MLD: late infantile, juvenile, and adult. Onset of the late infantile form (the ...
Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies. These diseases impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of varying lipids (75%) and proteins (25%). The leukodystrophies are caused by genetic defects in myelin production or metabolization of the compounds of the myelin sheath. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the enzymes responsible for creating or degrading a part of the myelin. MLD is caused by a deficiency of the enzyme arylsulfatase A. MLD is one of several lipid storage diseases, which results in the toxic build-up of fatty materials (lipids) in cells in the nervous system, liver, and kidneys. There are three forms of MLD: late infantile, juvenile, and adult. Onset of the late infantile form (the ...
Metachromatic leukodystrophy (MLD) is a rare genetic condition that causes a buildup of a specific type of fat (sulfatides) in brain and spinal cord cells. This buildup causes leukodystrophy, which is progressive destruction of cells that have a myelin coating (white matter) in the brain and spinal cord. Destruction of these cells leads to the inability to think clearly and perform physical tasks. Individuals with MLD lose the ability to perform daily functions over time, such as talking and walking. As the disease progresses, individuals lose awareness of where they are and eventually become unresponsive. Blindness, seizures and hearing loss may also occur. There are three forms of MLD: late infantile form, juvenile form, and adult form. The late infantile form, which is the most common form, begins in the second year of life and progresses rapidly. The juvenile form typically begins between 4 years of age and teenage years, while the adult form starts after the teenage years.. MLD, which is an ...
Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies. These diseases impair the growth or developm...
Arylsulfatases: Enzymes that catalyze the hydrolysis of a phenol sulfate to yield a phenol and sulfate. Arylsulfatase A, B, and C have been separated. A deficiency of arylsulfatases is one of the causes of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.1.
Substrate Reduction Therapy. With MLD there is not enough ARSA enzyme present to break down all of the sulfatides produced by the body. Instead of increasing the enzyme levels, which is the goal of most other MLD therapies, substrate reduction therapy focuses on reducing the amount of sulfatide produced by the body.. Dr. Maegawa from Johns Hopkins in Baltimore is working on a small molecule therapy to reduce the substrate build up. He has seen a significant reduction in build up in skin fibroblasts using a similar approach for Tay Sachs disease and is in human clinical trials for that effort. As of July 2011 he is in his second year of MLD research and has an assy in development for MLD. He plans to screen the NCGI library of elements once the assay is completed.. Zacharon Pharmaceuticals from San Diego is initiating a drug discovery program for MLD. This program is based on using assays which measure sulfatide accumulation in cultured fibroblasts as a means to discover and develop small ...
Cerebroside sulfatase: …called arylsulfatase A (ASA), or cerebroside sulfatase. Arylsulfatase A deficiency allows certain harmful sulfur-containing lipids, known as sulfosphingolipids (also called sulfatides), to accumulate in nerve tissues of the central nervous system instead of being broken down. Sulfatides can also accumulate in nerve tissue in organs, such as the kidneys and…
Often your arrival here comes at a time of great personal trauma due to a recent diagnosis or encounter with MLD. We want you to know that you can count on us for support, information and to help you get connected with others who are also on the MLD journey.. ...
An update on the MLD Foundation work to develop a newborn screen test for MLD including an interview with Dr. Michael Gelb, an overview of federal and state policy for NBS, the RUSP process, and an introduction to the MLD Foundations RUSP Roundtable initiative which includes a discussion about viable therapy. Dean Suhr - President, Teryn Suhr - Executive Director - MLD ...
Prof. Timothy Cox ... Fellow and Professor of Medicine - Cambridge University - with a focus on Lysosomal Diseases. ... Addenbrookes Cambridge University Hospital, UK. (Cambridge, UK). Dr. Christine I. Dali ... Pediatric Neurologist ... Principal Investigator for the Phase I/IB Clinical Trials in Europe for Metazyme, an Enzyme Replacement Therapy for MLD. ... Rigshospitalet, Department of Clinical Genetics, University Hospital Copenhagen, Denmark. (Copenhagen, Denmark). Dr. Maria Escolar ... Neurodevelopmental pediatrician ... MS Director, Program for the Study of Neurodevelopment in Rare Disorders (NDRD), Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center. Formerly with the NFRD -Neurodevelopmental Function in Rare Disorders program at University of North Carolina, Chapel Hill. (Pennsylvania, USA). Dr. Julie Hauer ... Pediatrician, Pediatric Palliative Care Specialist ... Dr. Hauer is Pediatric Neuro-Palliative Care Consultant, Medical Director, Seven Hills Pediatric ...
Shanice Beerepoot, a PhD candidate at the Amsterdam Leukodystrophy Center, Amsterdam University Medical Centre (ERN-RND member), spent 6 weeks at the Paediatric Neurology department, University Hospital Tübingen, Germany to conduct research with Samuel Gröschel and Alexander Grimm. They investigated how the disease Metachromatic Leukodystrophy (MLD) affects the peripheral nerves in patients over time by analyzing the results of nerve conduction studies and nerve ultrasounds. Her stay was supported by the EJP RD fellowship program.. Thanks to this program I had the opportunity to combine the data of German and Dutch MLD patients, resulting in a total of 285 nerve conduction studies (from 97 patients) and 58 nerve ultrasounds (from 36 patients) to be analyzed. So far, the largest study examining peripheral neuropathy in MLD patients included one nerve conduction measurement in 40 patients with early disease onset (http://dx.doi.org/10.1136/jnnp.2005.063776). In addition, nerve ultrasound ...
By Alessandra Biffi, Eugenio Montini, Laura Lorioli, Martina Cesani, Francesca Fumagalli, Tiziana Plati, Cristina Baldoli, Sabata Martino, Andrea Calabria, Sabrina Canale, Fabrizio Benedicenti, Giuliana Vallanti, Luca Biasco, Simone Leo, Nabil Kabbara, Gianluigi Zanetti, William B. Rizzo, Nalini A. L. Mehta, Maria Pia Cicalese, Miriam Casiraghi, Jaap J. Boelens, Ubaldo Del Carro, David J. Dow, Manfred Schmidt, Andrea Assanelli, Victor Neduva, Clelia Di Serio, Elia Stupka, Jason Gardner, Christof von Kalle, Claudio Bordignon, Fabio Ciceri, Attilio Rovelli, Maria Grazia Roncarolo, Alessandro Aiuti, Maria Sessa, Luigi Naldini. Science ...
Results In this retrospective study, 16 patients with baseline scans were included, 5 with good, 3 with moderate and 8 with poor outcome, and 16 controls. We observed significant group differences for all metabolite concentrations in white matter (p,0.001). Compared with controls, patients had decreased N-acetylaspartate and glutamate, and increased myo-inositol and lactate, most pronounced in patients with poor outcome (post hoc, all p,0.05). Logistic regression showed complete separation of data. Creatine could distinguish poor from moderate and good outcome, the sum of glutamate and glutamine could distinguish good from moderate and poor outcome, and N-acetylaspartate could distinguish all outcome groups. For 13 patients (8 with baseline scans), one or more follow-up examinations were evaluated, revealing stabilisation or even partial normalisation of metabolites in patients with moderate and good outcome, clearly visible in the ratio of choline/N-acetylaspartate. ...
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by a deficiency of the arylsulfatase A (ARSA) enzyme, which leads to the accumulation of galactosyl sulfatide (cerebroside sulfate) in the white matter of the central nervous system and in the peripheral nervous system. Galactosyl sulfatide and, to a smaller extent, lactosyl sulfatide, also accumulate within the kidney, gallbladder, and other visceral organs and are excreted in excessive amounts in the urine.. The 3 clinical forms of MLD are late-infantile, juvenile, and adult, depending on age of onset. All result in progressive neurologic changes and leukodystrophy demonstrated on magnetic resonance imaging. Late-infantile MLD is the most common (50%-60% of cases) and usually presents between age 1 to 2 years with hypotonia, clumsiness, diminished reflexes, and slurred speech. Progressive neurodegeneration occurs and most patients die within 5 years of the diagnosis. Juvenile MLD (20%-30% of cases) is characterized by ...
Define Arylsulfatase E. Arylsulfatase E synonyms, Arylsulfatase E pronunciation, Arylsulfatase E translation, English dictionary definition of Arylsulfatase E. n. Chiefly British Slang Variant of ass2. or n 1. the buttocks 2. the anus 3. a stupid person; fool 4. sexual intercourse 5. Austral effrontery; cheek 6....
Bethany, the seventh child of David and Lindey McIntyre, was born in London, Canada on April 1st, 1993. Bethany was born as normal as her brothers and sisters and her early life saw steady development, obtaining the usual milestones. Bethanys only difficulty seemed to be her late progression in walking. She demonstrated a difficulty with balance. This problem was investigated in London and in Toronto and on August 12th, 1995 after an exhaustive eight months of tests this little 2 ½-year-old was diagnosed with a terrible disease - Metachromatic Leukodystrophy (MLD). On the day of her diagnosis, Bethany was very much an active little child and was playing with Lego blocks while her medical team explained the dreadful prognosis.. Stunned by this revelation the McIntyres searched for answers and hope for their child only to be told that the medical community had nothing to offer. One comment from a veteran Doctor in the room that afternoon that they will never forget was - why bother …. after ...
The MOMS Club of Christiansburg raised $80,000 to build an indoor play area at New River Valley Mall in honor of a girl with Metachromatic Leukodystrophy.
Arylsulfatase A antibody [N2C2], Internal (arylsulfatase A) for WB. Anti-Arylsulfatase A pAb (GTX106155) is tested in Human samples. 100% Ab-Assurance.
Arylsulfatase A (ASA) is a lysosomal enzyme involved in the catabolism of cerebroside sulfate. ASA deficiency is associated with metachromatic leukodystrophy (MLD). Low ASA activities have also been reported in a more common condition with no apparent clinical consequences termed ASA pseudo-deficiency (ASA-PD) which is associated with two linked mutations in the ASA gene (c.1049A | G and c.*96A | G). This study aimed to investigate the frequency of the two ASA-PD variants and their linkage disequilibrium (LD) among Tunisians. ASA-PD variants were detected in 129 healthy Tunisians and their frequencies were compared to those described worldwide. The frequency of the PD allele was estimated at 17.4 % for the overall sample, with c.1049A | G and c.*96A | G frequencies of 25.6 and 17.4 %, respectively. This study also revealed a high LD between the two ASA-PD variants (r (2) = 0.61). Inter-population analysis revealed similarities in the ASA-PD genetic structure between Tunisians and populations from Middle
Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1, which encodes a protein involved in a post-translational modification at the catalytic site of all sulfatases that is necessary for their function. SUMF1 strongly enhances the activity of sulfatases when coexpressed with sulfatase in Cos-7 cells. We performed a mutational analysis of SUMF1 in 20 MSD patients of different ethnic origin. The clinical presentation of these patients was variable, ranging from severe neonatal forms to mild phenotypes showing mild neurological involvement. A total of 22 SUMF1 mutations were identified, including missense, nonsense, microdeletion, and splicing mutations. We expressed all missense mutations in culture to study their ability to enhance the activity of sulfatases. Of the predicted amino acid changes, 11 (p.R349W, p.R224W, p.L20F, p.A348P, p.S155P, p.C218Y, p.N259I, p.A279V, p.R349Q, p.C336R, p.A177P)
Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1, which encodes a protein involved in a post-translational modification at the catalytic site of all sulfatases that is necessary for their func …
Arylsulfatase A (ASA)-deficient mice are a model for the lysosomal storage disorder metachromatic leukodystrophy. This lipidosis is characterised by the lysosomal accumulation of the sphingolipid sulfatide. Storage of this lipid is associated with progressive demyelination. We have mated ASA-deficient mice with mice heterozygous for a non-functional allele of UDP-galactose:ceramide-galactosyltransferase (CGT). This deficiency is known to lead to a decreased synthesis of galactosylceramide and sulfatide, which should reduce sulfatide storage and improve pathology in ASA-deficient mice. ASA-/- CGT+/- mice, however, showed no detectable decrease in sulfatide storage. Neuronal degeneration of cells in the spiral ganglion of the inner ear, however, was decreased. Behavioural tests showed small but clear improvements of the phenotype in ASA-/- CGT+/- mice. Thus the reduction of galactosylceramide and sulfatide biosynthesis by genetic means overall causes modest improvements of pathology.
Research Project: A natural history study of Multiple Sulfatase Deficiency (MSD) in the fruit fly (Drosophila melanogaster) - The objective of discovering and validating phenotypes amenable for high- throughput drug screening, or screenotypes. Principle Investigator: Ethan Perlstein Ph.D.. Co-Applicant: Joshua Mast, Ph.D.. (An extract from Perlaras website). Perlara, a drug discovery platform company partnering with highly motivated families and drug developers to cure diseases thought too rare to matter, today announced a PerlQuest partnership with MSD Action Foundation (MSDAF), a research-focused charity based in Ireland. Multiple Sulfatase Deficiency (MSD) is an ultra-rare monogenic lysosomal disorder caused by mutations in the evolutionarily conserved gene SUMF1. MSD Action Foundation is aware of 62 living patients worldwide that are affected but the actual number is thought to be much higher. There are currently no approved treatments for MSD.. SUMF1 encodes a protein called ...
At 10 oclock in the morning on a Friday one year ago, our phone rings. It is our (then) pediatrician with Esmés brain MRI. Shed had the brain scan to look for damage after her cardiac and respiratory arrest several months before-when she was three months old.. The good news, he says is that there is no damage from her event in April. The MRI has also given us some insight into why Esmé is the way she is. It looks as though she has some form of leukodystrophy.. He explains that there are lots of different forms of leukodystrophy and that this does not constitute a diagnosis since we will need to figure out what type she has.. He spells the word leukodystrophy for me. Twice.. Ten minutes on the internet shows me that almost every form of the disease is fatal in two to ten years. The one I can find that is not fatal occurs only in boys. My husband leaves work immediately hearing my hysterical voice on the other end of the phone…I can hardly form words. We spend the weekend curled in ...
Types A and B appear most often in Jewish families. Type C affects all ethnic groups and is the most common. Ataxia and dystonia are followed by supranuclear vertical gaze palsy, seizures, and dementia. Hepatosplenomegaly often coexists. Foamy (lipid-laden) cells or sea-blue histiocytes in the liver and bone marrow are diagnostic. Metachromatic Leukodystrophy (Arylsulfatase A or Saposin B Deficiency) Deficiency of arylsulfatase A or its activator, saposin B, leads to accumulation of cerebroside sulfate, which causes progressive (frontal-predominant) central and peripheral demyelination. ADHD affects about 5% of school-aged children worldwide, predominantly males (3:1 to 8:1). About one-third of ADHD cases have at least one ADHD parent. The risk to first-degree relatives of affected individual is 8-10 times that of the general population. ADHD persists into adolescence in about 30%-50% of affected individuals. The DSM-IV-TR distinguishes two dimensions in the behavior of individuals with ADHD: ...
The pig endometrial arylsulphatase A was purified 3322-fold to a specific activity of 150 mumol/min per mg. The purification involved (NH4)2SO4 fractionation, chromatography on concanavalin A-Sepharose and DEAE-Sepharose, gel filtrations on Sephadex G-200 at pH 7.4 and 5, and a new preparative gel-electrophoresis technique. The homogeneous enzyme is a glycoprotein containing 20% carbohydrate. The purified enzyme has Mr about 120 000 and it contains subunits of Mr 63 000. The pig endometrial arylsulphatase A shows many properties in common with those of arylsulphatases A purified from other sources. The similarities include their low isoelectric points, the anomalous time-activity relationships, multi-pH optima, inhibition by SO3(2-), SO4(2-), phosphate ions, metal ions and nucleoside phosphates, pH- and ionic-strength-dependent polymerization and amino acid composition. ...
A group dedicated to supporting persons and their families affected by Leukodystrophy - a group of severe and degenerative genetic neurological disorders
G. DUBOIS, J. C. TURPIN, N. BAUMANN; Electrophoretic Characterization of A and B Isoenzymes of Arylsulfatase. Biochem Soc Trans 1 April 1974; 2 (2): 256. doi: https://doi.org/10.1042/bst0020256. Download citation file:. ...
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As a member of the wwPDB, the RCSB PDB curates and annotates PDB data according to agreed upon standards. The RCSB PDB also provides a variety of tools and resources. Users can perform simple and advanced searches based on annotations relating to sequence, structure and function. These molecules are visualized, downloaded, and analyzed by users who range from students to specialized scientists.
Ryder Hauer is a young boy who battles with with a rare degenerative disease know as Leukodystrophy. Come follow and show your support as he...
Ryder Hauer is a young boy who battles with with a rare degenerative disease know as Leukodystrophy. Come follow and show your support as he...
8. Adenoid facies = adenoid hypertrophy. 9. Leonine facies = lepromatous leprosy . 10. Bird facies = pierre robin syndrome. 11. Mongoloid facies = downs syndrome. 12. Coarse facies = most of the inborn errors of metabolism (iem) viz. The muco- polysaccharidoses (mps), mucolipidoses (ml), fucosidoses mannosidoses, sialidoses, aspartylglycosaminuria, generalised gangliosidosis(gml ) and austins variant of metachromatic leukodystrophy due to multiple sulfatase deficiency (mld-msd) have similar appearing facies ...
The relative activities of arylsulphatases A and B were measured in rat liver parenchymal and non-parenchymal cells, in peritoneal macrophages and in a number of rat tissues. Although absolute values cannot be obtained, it was shown that the arylsulphatase B/arylsulphatase A activity ratio is much higher in non-parenchymal cells than in parenchymal cells. The ratios in adrenals, brain and testis are very similar to each other but differ from those found in spleen, kidney and liver. These ratio variations may be caused by alterations in the activity of the B enzyme rather than the A enzyme. The relatively high B enzyme/A enzyme ratios in all rat tissues explains why the method devised for the independent assay of human arylsulphatases A and B cannot be employed with rat tissues.. ...
Sulfatases are enzymes essential for degradation and remodeling of sulfate esters. Formylglycine (FGly), the key catalytic residue in the active site, is unique to sulfatases. In higher eukaryotes, FGly is generated from a cysteine precursor by the FGly-generating enzyme (FGE). Inactivity of FGE results in multiple sulfatase deficiency (MSD), a fatal autosomal recessive syndrome. Based on the crystal structure, we report that FGE is a single-domain monomer with a surprising paucity of secondary structure and adopts a unique fold. The effect of all 18 missense mutations found in MSD patients is explained by the FGE structure, providing a molecular basis of MSD. The catalytic mechanism of FGly generation was elucidated by six high-resolution structures of FGE in different redox environments. The structures allow formulation of a novel oxygenase mechanism whereby FGE utilizes molecular oxygen to generate FGly via a cysteine sulfenic acid intermediate. Molecular basis for multiple sulfatase ...
Complete information for ARSA gene (Protein Coding), Arylsulfatase A, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information for ARSA gene (Protein Coding), Arylsulfatase A, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Do you have a question about the Leukodystrophy Center or about the services we offer at Childrens Hospital of Philadelphia? Well do our best to respond quickly, but please remember that it may take several days for us to send you a reply.. Please do not use this form to communicate information about your childs health.. If this is an emergency, please call 911 or your local emergency services provider.. ...
Leukodystrophy hypomyelinating (GJC2) Test Cost INR 30000.00 Surat Pune Jaipur Lucknow Kanpur Nagpur Visakhapatnam Indore Thane Bhopal Patna Vadodara Ghaziabad Ludhiana Coimbatore Madurai Meerut Ranchi Allahabad Trivandrum Pondicherry Mysore Aligarh best offer discount price
Nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease and assistance in their health. ...
Diagnosis Code 330.0 information, including descriptions, synonyms, code edits, ICD-10 conversion and references to the diseases index.
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Updated: 2019/03/07 13:47:37. Note: The information contained in this handbook is for use by personnel of University of Iowa Health Care. No other use is implied or intended.. Vacutainer® and/or Microtainer® are registered trademarks of Becton, Dickinson & Company.. ...
Souza, Paulo Victor Sgobbi de, Pinto, Wladimir Bocca Vieira de Rezende and Oliveira, Acary Souza Bulle Lumbago and alopecia in a patient with leukodystrophy: think on CARASIL. Arq. Neuro-Psiquiatr., July 2016, vol.74, no.7, p.599-600. ISSN 0004- ...
TSN Front Row aims to pull back the curtain, showcasing what life is like at TSN, taking fans behind-the-scenes at the network, and illuminating how we bring sports fans thousands of hours of live sports programming every year ...
... or cerebroside-sulfatase) is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. ... "A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency". Cell. 82 (2): 271-8. doi: ...
... n-acetylgalactosamine-4-sulfatase MeSH D08.811.277.352.827.070.250 --- cerebroside-sulfatase MeSH D08.811.277.352.827.070.625 ... n-acetylgalactosamine-4-sulfatase MeSH D08.811.277.352.827.180.175.275 --- chondro-4-sulfatase MeSH D08.811.277.352.827.500 ... steryl-sulfatase MeSH D08.811.277.352.827.180 --- chondroitinases and chondroitin lyases MeSH D08.811.277.352.827.180.175 --- ... iduronate sulfatase MeSH D08.811.277.352.897 --- thiolester hydrolases MeSH D08.811.277.352.897.075 --- acetyl-CoA hydrolase ...
... cerebroside-sulfatase steroid sulfatase arylsulfatase A EC 3.1.6.8 (ASA), a lysosomal enzyme which hydrolyzes cerebroside ... Genetic defects in sulfatase activity can arise through mutations in individual sulfatases and result in certain lysosomal ... Sulfatases EC 3.1.6.- are enzymes of the esterase class that catalyze the hydrolysis of sulfate esters. These may be found on a ... Steroid sulfatase is distributed in a wide range of tissues throughout the body, enabling sulfated steroids synthesized in the ...
... (EC 3.1.6.8, arylsulfatase A, cerebroside sulfate sulfatase) is an enzyme with systematic name ... Arylsulfatase A Cerebroside-sulfatase at the US National Library of Medicine Medical Subject Headings (MeSH) Molecular and ... Mehl, E.; Jatzkewitz, H. (1964). "A cerebrosidesulfatase from swine kidney". Hoppe-Seyler's Z. Physiol. Chem. 339 (1): 260-276 ... This enzyme catalyses the following chemical reaction a cerebroside 3-sulfate + H2O ⇌ {\displaystyle \rightleftharpoons } a ...
... "cerebroside-sulfatase") Arylsulfatase B (also known as "N-Acetylgalactosamine-4-Sulfatase") Steroid sulfatase (formerly known ... p-nitrophenyl sulfatase, arylsulfohydrolase, 4-methylumbelliferyl sulfatase, estrogen sulfatase) is a type of sulfatase enzyme ... Arylsulfatase (EC 3.1.6.1, sulfatase, nitrocatechol sulfatase, phenolsulfatase, phenylsulfatase, ...
... choline-sulfatase EC 3.1.6.7: cellulose-polysulfatase EC 3.1.6.8: cerebroside-sulfatase EC 3.1.6.9: chondro-4-sulfatase EC 3.1. ... N-sulfoglucosamine-3-sulfatase EC 3.1.6.16: monomethyl-sulfatase EC 3.1.6.17: D-lactate-2-sulfatase EC 3.1.6.18: glucuronate-2- ... N-acetylgalactosamine-4-sulfatase EC 3.1.6.13: iduronate-2-sulfatase EC 3.1.6.14: N-acetylglucosamine-6-sulfatase EC 3.1.6.15: ... steryl-sulfatase EC 3.1.6.3: glycosulfatase EC 3.1.6.4: N-acetylgalactosamine-6-sulfatase EC 3.1.6.5: deleted EC 3.1.6.6: ...
1991). "The organization of the gene for the human cerebroside sulfate activator protein". FEBS Lett. 280 (2): 267-70. doi: ... 1986). "Molecular cloning of the sphingolipid activator protein-1 (SAP-1), the sulfatide sulfatase activator". Biochem. Biophys ... 1990). "The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein ...
It is believed to be caused by a deficiency in arylsulfatase A. Arylsulfatase A is a lysosomal sulfatase that is able to ... Specifically, cerebroside sulfotransferase (CST) is elevated as it passes along a signaling pathway which involves: hepatocyte ... This reaction is catalyzed by cerebroside sulfotransferase (CST). CST is a homodimeric protein that is found in the Golgi ... In peripheral nerves that are cerebroside sulfotransferase (CST) deficient, the nodes of Ranvier form enlarged axonal ...
... or cerebroside sulfatase. Arylsulfatase A deficiency allows certain harmful sulfur-containing lipids, known as ... called arylsulfatase A (ASA), or cerebroside sulfatase. Arylsulfatase A deficiency allows certain harmful sulfur-containing ...
Cerebroside-sulfatase (EC 3.1.6.8, arylsulfatase A, cerebroside sulfate sulfatase) is an enzyme with systematic name ... Arylsulfatase A Cerebroside-sulfatase at the US National Library of Medicine Medical Subject Headings (MeSH) Molecular and ... Mehl, E.; Jatzkewitz, H. (1964). "A cerebrosidesulfatase from swine kidney". Hoppe-Seylers Z. Physiol. Chem. 339 (1): 260-276 ... This enzyme catalyses the following chemical reaction a cerebroside 3-sulfate + H2O ⇌ {\displaystyle \rightleftharpoons } a ...
What is cerebroside-sulfatase? Meaning of cerebroside-sulfatase medical term. What does cerebroside-sulfatase mean? ... Looking for online definition of cerebroside-sulfatase in the Medical Dictionary? cerebroside-sulfatase explanation free. ... cerebroside-sulfatase. cer·e·bro·side-sul·fa·tase. , cerebroside sulfatidase. an enzyme that cleaves sulfate from a sulfated ... medical-dictionary.thefreedictionary.com/cerebroside-sulfatase,cerebroside-sulfatase,/a,. *Facebook ...
Cerebroside-Sulfatase. *MLD. *sulfatidase. Additional Information & Resources. Tests Listed in the Genetic Testing Registry. * ...
cerebroside sulfatase deficiency disease. *metachromatic leukoencephalopathy. *sulfatide lipidosis. *sulfatidosis. Types of ...
cerebroside sulphatase deficiency disease. *Greenfield disease. *metachromatic leukoencephalopathy. *MLD. *sulfatide lipidosis ...
cerebroside 3-sulfatase. *Cerebroside-3-sulfate 3-sulfohydrolase. *Cerebroside-Sulfatase. *MLD. *sulfatidase ...
metachromatic leukodystrophy: …called arylsulfatase A (ASA), or cerebroside sulfatase. Arylsulfatase A deficiency allows ... metachromatic leukodystrophy: …called arylsulfatase A (ASA), or cerebroside sulfatase. Arylsulfatase A deficiency allows ...
Immunochemical Studies of Cerebroside Sulphatase Mayada Tassabehji, Colin H. Wynn. Pages 261-265 ...
cerebroside-sulfatase activity. TAS. --. GO:0005509. calcium ion binding. IDA. 12888274. GO:0005515. protein binding. IPI. ... The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to ... A cerebroside 3-sulfate + H(2)O = a cerebroside + sulfate. *ARSA_HUMAN,P15289 ... Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the ...
ARSA, Cerebroside-sulfatase, Arylsulfatase A Component B, .... *. Reactivity: Human. *. Quantity: 96 Well Plate ...
Sulfatases: 77*Arylsulfatases: 42*Steryl-Sulfatase: 365. *Cerebroside-Sulfatase: 324. *N-Acetylgalactosamine-4-Sulfatase: 163 ...
It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B). ... Cerebroside-Sulfatase (Arylsulfatase A)IBA 10/31/1991 - "The enzyme activity of arylsulfatase A and arylsulfatase B was studied ... N-Acetylgalactosamine-4-Sulfatase; Deficiency, Arylsulfatase B; Deficiency, N-Acetylgalactosamine-4-Sulfatase; Dwarfism, ... N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 03/01/2003 - "This study evaluates the immunological response following ...
cerebroside synonyms, cerebroside pronunciation, cerebroside translation, English dictionary definition of cerebroside. n. Any ... Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy ... cerebroside. Also found in: Medical, Encyclopedia, Wikipedia.. Related to cerebroside: ganglioside. cer·e·bro·side. (sĕr′ə-brə- ... IFB-121 * Cerebroside 1 * Cerebroside 2 Phornopsis sp.. Endophytic fungi--the treasure chest of antibacterial substances ...
ASA, ARSA, Cerebroside-sulfatase. SwissProt ID. P15289 (Human), P50428 (Mouse), Q08DD1 (Bovin) ... 2. Kimura T, Nakajima T, Kamijo Y, Tanaka N, Wang L, Hara A, Sugiyama E, Tanaka E, Gonzalez FJ, Aoyama T. Hepatic Cerebroside ... Acute kidney injury induced by protein-overload nephropathy down-regulates gene expression of hepatic cerebroside ...
Cerebroside sulfatase deficiency, ARSA deficiency ...
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator. *Muscle AMP deaminase deficiency ...
Mraz, W., and Jatzkewitz, H., 1974, Cerebroside sulphatase activity of arylsulphatases from various invertebrates, Z. Physiol. ... Lin, Y.-N., and Radin, N. S., 1973, Alternate pathways of cerebroside catabolism, Lipids 8: 732-736.PubMedCrossRefGoogle ... Kopaczyk, K. C, and Radin, N. S., 1965, In vivo conversions of cerebroside and ceramide in rat brain, J. Lipid Res. 6: 140-145. ... Radin, N. S., 1974, Preparation of psychosines (1-0-hexosylsphingosine) from cerebrosides, Lipids 9: 358-360.PubMedCrossRef ...
Iduronaat-2-sulfatase [enzymatische activiteit/massa] in leukocyten. Heparine bloed. Iduronaat-2-sulfatase [enzymatische ... Cerebrosidesulfatase [enzymatische activiteit/massa] in leukocyten. Heparine bloed. Ceruloplasmine [massa/volume] in serum of ... Heparine-N-sulfatase [enzymatische activiteit/massa] in leukocyten. Heparine bloed. Hepcidine 25 peptide [mol/volume] in serum ... N-Acetylglucosamine-6-sulfatase [enzymatische activiteit/massa] in leukocyten. Heparine bloed. Neopterine [mol/​volume] in ...
... or cerebroside-sulfatase) is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. ... "A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency". Cell. 82 (2): 271-8. doi: ...
Cerebroside sulfatase activity in cultivated human skin fibroblasts and amniotic fluid cells;. Booth, C.W., Chen, K.K., Nadler ...
arylsulfatase activity; calcium ion binding; cerebroside-sulfatase activity; hydrolase activity; sulfuric ester hydrolase ...
MLD antibody, ARSA antibody, arylsulfatase A antibody, ASA antibody, cerebroside-sulfatase antibody. ... The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to ...
... cerebroside sulfatase deficiency, sulfatide lipidosis, MLD, metachromatic leukodystrophy, sulfatase deficiency ...
Structural alignment of iPGM with ECAP and cerebroside sulfatase confirmed that all these enzymes have a common core structure ... In ECAP and mammalian APs, this Ser residue is phosphorylated during catalysis, whereas in sulfatases the active site Cys ... sulfatases, phosphonate hydrolases) or a second substrate (in phosphoglycerol and phosphoethanolamine transferases) or just a ... and revealed similarly located conserved Ser (in iPGM, ECAP and mammalian APs) or Cys (in sulfatases) residues in their active ...
This domain unites alkaline phosphatase, N-acetylgalactosamine-4-sulphatase, and cerebroside sulphatase, enzymes with known ... unifies phosphopentomutase and cofactor-independent phosphoglycerate mutase with alkaline phosphatases and sulfatases.. Protein ...
A marked deficiency of arylsulfatase A, which is considered the heat-labile component of cerebroside sulfatase, has been ... An enzyme that catalyzes the hydrolysis of cerebroside 3-sulfate (sulfatide) to yield a cerebroside and inorganic sulfate. ...
An autosomal recessive disorder, MLD results from pathologic excess of cerebroside sulfatase (sulfatide), a major lipid ... No patient had records of exam findings consistent with multiple sulfatase deficiency. In one patient with low baseline ARSA ... histories and examinations were reviewed for dermatologic or musculoskeletal findings consistent with multiple sulfatase ...
In the absence of a specific enzyme, cerebroside sulfatase - a flavor of myelin (with a sulphur group attached - called a ...
  • Metachromatic leukodystrophy is also known as MLD metachromatic leukoencephalopathy cerebral sclerosis, diffuse, metachromatic form sulfatide lipidosis arylsulfatase A deficiency arylsulfatase A (ARSA) deficiency and cerebro-side sulfatase. (clicktocurecancer.info)
  • Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by a deficiency of the arylsulfatase A (ARSA) enzyme, which leads to the accumulation of galactosyl sulfatide (cerebroside sulfate) in the white matter of the central nervous system and in the peripheral nervous system. (testcatalog.org)
  • Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive disorder caused by the deficiency of the Arylsulfatase A enzyme (ARSA), resulting in accumulation of galactosyl sulfatide (cerebroside sulfate), a major constituent of the myelin sheath. (clinicaltrials.gov)
  • It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B). (curehunter.com)
  • The deficiency of arylsulphatase A leads to storage of cerebroside sulphate in the neural tissues. (thefreedictionary.com)
  • A marked deficiency of arylsulfatase A, which is considered the heat-labile component of cerebroside sulfatase, has been demonstrated in all forms of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). (nih.gov)
  • ASA deficiency is associated with metachromatic leucodystrophy (MLD), a rare autosomal recessive disorder, which is characterised by the storage of cerebroside sulphate. (ox.ac.uk)
  • and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency ( OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis ( OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy. (mendelian.co)
  • Multiple sulfatase deficiency with a novel biochemical presentation. (diff.org)
  • Previous studies have shown a deficiency of steroid sulfatase (STS) in skin fibroblasts and a marked elevation of plasma cholesterol sulfate in patients with X-linked ichthyosis. (medscape.com)
  • This disorder is distinct from conditions caused by deficiencies of arylsulfatase B (Maroteaux-Lamy disease) and arylsulfatase C (steroid sulfatase deficiency). (testcatalog.org)
  • Individuals with multiple sulfatase deficiency, which is clinically distinct from MLD, will also have deficiency of arylsulfatase A. (testcatalog.org)
  • Cerebroside-sulfatase (EC 3.1.6.8, arylsulfatase A, cerebroside sulfate sulfatase) is an enzyme with systematic name cerebroside-3-sulfate 3-sulfohydrolase. (wikipedia.org)
  • This enzyme catalyses the following chemical reaction a cerebroside 3-sulfate + H2O ⇌ {\displaystyle \rightleftharpoons } a cerebroside + sulfate This enzyme hydrolyses galactose-3-sulfate residues in a number of lipids. (wikipedia.org)
  • Arylsulfatase A (or cerebroside-sulfatase) is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. (wikipedia.org)
  • An enzyme that catalyzes the hydrolysis of cerebroside 3-sulfate (sulfatide) to yield a cerebroside and inorganic sulfate. (nih.gov)
  • In the absence of a specific enzyme, cerebroside sulfatase - a flavor of myelin (with a sulphur group attached - called a sulphatide) builds up. (pediatric-orthopedics.com)
  • Arylsulphatase A (ASA, EC 3.1.6.1) is a lysosomal enzyme that catalyses cerebroside sulphate degradation. (ox.ac.uk)
  • A gene on chromosome 22q13.31-qter that encodes arylsulfatase A, which hydrolyses cerebroside sulfate to cerebroside and sulfate. (thefreedictionary.com)
  • The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. (genecards.org)
  • In the T84 cell line, derived from lung metastasis of malignant colonic epithelial cells, the activity of ASB, as well as steroid sulfatase, arylsulfatase A, and galactose-6-sulfatase, were significantly less than in normal, primary colonic epithelial cells and in the NCM460 cell line which was derived from normal colonocytes. (diff.org)
  • Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family. (thefreedictionary.com)
  • In addition, there is reduction in accumulation of cholesterol, phospholipid, and cerebroside , which affects the cerebellar function. (thefreedictionary.com)
  • Sulfatases catalyze the cleavage of sulfate groups from such molecules and are thus essential enzymes in the biomedical field, but also in general biology, in environmental processes and in biotechnology. (sb-roscoff.fr)
  • 1. Zhang X, Nakajima T, Kamijo Y, Li G, Hu R, Kannagi R, Kyogashima M, Aoyama T, Hara A. Acute kidney injury induced by protein-overload nephropathy down-regulates gene expression of hepatic cerebroside sulfotransferase in mice, resulting in reduction of liver and serum sulfatides. (acris-antibodies.com)
  • Rebuilding the balance of STAT-1 and STAT3 signalings by fusaruside, a cerebroside compound, for the treatment of T-cell-mediated fulminant hepatitis in mice. (thefreedictionary.com)
  • These proteins have been essentially studied in the context of severe genetic diseases in human and the number of characterized sulfatases is thus limited in comparison to the huge diversity of sulfated compounds. (sb-roscoff.fr)
  • For instance steroid sulfate, cerebroside sulfate or heparin play vital roles in human and animals. (sb-roscoff.fr)
  • Characterization of iodothyronine sulfatase activities in human and rat liver and placenta. (diff.org)
  • These results suggest that ARSC accounts for the relatively low iodothyronine sulfatase activity of human placenta, and that additional arylsulfatase(s) contributes to the high iodothyronine sulfatase activity in human liver. (diff.org)
  • Die - Public inventions share University sulfatases that by patent exist long-term to the meeting upon line, and that the file of the mornings would then remind Invisible quadratic, American or large history. (meadowechofarm.com)
  • Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: significant differences between type I and type III. (thefreedictionary.com)