Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.PubMed: A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.BooksPublishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.MEDLINE: The premier bibliographic database of the NATIONAL LIBRARY OF MEDICINE. MEDLINE® (MEDLARS Online) is the primary subset of PUBMED and can be searched on NLM's Web site in PubMed or the NLM Gateway. MEDLINE references are indexed with MEDICAL SUBJECT HEADINGS (MeSH).Trihexosylceramides: Glycosphingolipids which contain as their polar head group a trisaccharide (galactose-galactose-glucose) moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in ceramide trihexosidase, is the cause of angiokeratoma corporis diffusum (FABRY DISEASE).RNA Splice Sites: Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.Serial Publications: Publications in any medium issued in successive parts bearing numerical or chronological designations and intended to be continued indefinitely. (ALA Glossary of Library and Information Science, 1983, p203)Complement C3c: A 206-amino-acid fragment in the alpha chain (672-1663) of C3b. It is generated when C3b is inactivated (iC3b) and its alpha chain is cleaved by COMPLEMENT FACTOR I into C3c (749-954), and C3dg (955-1303) in the presence COMPLEMENT FACTOR H.alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.Galactosidases: A family of galactoside hydrolases that hydrolyze compounds with an O-galactosyl linkage. EC 3.2.1.-.beta-Galactosidase: A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).Cerebrosides: 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)Lactose: A disaccharide of GLUCOSE and GALACTOSE in human and cow milk. It is used in pharmacy for tablets, in medicine as a nutrient, and in industry.Antibody Specificity: The property of antibodies which enables them to react with some ANTIGENIC DETERMINANTS and not with others. Specificity is dependent on chemical composition, physical forces, and molecular structure at the binding site.Galactose: An aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.Complement C3c: A 206-amino-acid fragment in the alpha chain (672-1663) of C3b. It is generated when C3b is inactivated (iC3b) and its alpha chain is cleaved by COMPLEMENT FACTOR I into C3c (749-954), and C3dg (955-1303) in the presence COMPLEMENT FACTOR H.alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.Galactosidases: A family of galactoside hydrolases that hydrolyze compounds with an O-galactosyl linkage. EC 3.2.1.-.beta-Galactosidase: A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).Cerebrosides: 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)HeLa Cells: The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.Lactose: A disaccharide of GLUCOSE and GALACTOSE in human and cow milk. It is used in pharmacy for tablets, in medicine as a nutrient, and in industry.Antibody Specificity: The property of antibodies which enables them to react with some ANTIGENIC DETERMINANTS and not with others. Specificity is dependent on chemical composition, physical forces, and molecular structure at the binding site.Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.Complement C3c: A 206-amino-acid fragment in the alpha chain (672-1663) of C3b. It is generated when C3b is inactivated (iC3b) and its alpha chain is cleaved by COMPLEMENT FACTOR I into C3c (749-954), and C3dg (955-1303) in the presence COMPLEMENT FACTOR H.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.High-Throughput Nucleotide Sequencing: Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Galactosidases: A family of galactoside hydrolases that hydrolyze compounds with an O-galactosyl linkage. EC 3.2.1.-.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.Angiokeratoma: A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis.Pathology, Molecular: A subspecialty of pathology concerned with the molecular basis (e.g., mutations) of various diseases.Pseudotsuga: A plant genus in the family PINACEAE, order Pinales, class Pinopsida, division Coniferophyta. They are coniferous evergreen trees with long, flat, spirally arranged needles that grow directly from the branch.Trihexosylceramides: Glycosphingolipids which contain as their polar head group a trisaccharide (galactose-galactose-glucose) moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in ceramide trihexosidase, is the cause of angiokeratoma corporis diffusum (FABRY DISEASE).Eye Manifestations: Ocular disorders attendant upon non-ocular disease or injury.Douglas' Pouch: A sac or recess formed by a fold of the peritoneum.Mucopolysaccharidoses: Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.Glycosphingolipids: 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)Complement C3c: A 206-amino-acid fragment in the alpha chain (672-1663) of C3b. It is generated when C3b is inactivated (iC3b) and its alpha chain is cleaved by COMPLEMENT FACTOR I into C3c (749-954), and C3dg (955-1303) in the presence COMPLEMENT FACTOR H.alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.Powders: Substances made up of an aggregation of small particles, as that obtained by grinding or trituration of a solid drug. In pharmacy it is a form in which substances are administered. (From Dorland, 28th ed)Galactosidases: A family of galactoside hydrolases that hydrolyze compounds with an O-galactosyl linkage. EC 3.2.1.-.Food Additives: Substances which are of little or no nutritive value, but are used in the processing or storage of foods or animal feed, especially in the developed countries; includes ANTIOXIDANTS; FOOD PRESERVATIVES; FOOD COLORING AGENTS; FLAVORING AGENTS; ANTI-INFECTIVE AGENTS (both plain and LOCAL); VEHICLES; EXCIPIENTS and other similarly used substances. Many of the same substances are PHARMACEUTIC AIDS when added to pharmaceuticals rather than to foods.beta-Galactosidase: A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.Animal Feed: Foodstuff used especially for domestic and laboratory animals, or livestock.Cerebrosides: 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)Food: Any substances taken in by the body that provide nourishment.Complement C3c: A 206-amino-acid fragment in the alpha chain (672-1663) of C3b. It is generated when C3b is inactivated (iC3b) and its alpha chain is cleaved by COMPLEMENT FACTOR I into C3c (749-954), and C3dg (955-1303) in the presence COMPLEMENT FACTOR H.alpha-Galactosidase: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids.Fabry Disease: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.Galactosidases: A family of galactoside hydrolases that hydrolyze compounds with an O-galactosyl linkage. EC 3.2.1.-.beta-Galactosidase: A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.Pasteurellosis, Pneumonic: Bovine respiratory disease found in animals that have been shipped or exposed to CATTLE recently transported. The major agent responsible for the disease is MANNHEIMIA HAEMOLYTICA and less commonly, PASTEURELLA MULTOCIDA or HAEMOPHILUS SOMNUS. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the LUNG. They are considered opportunistic pathogens following STRESS, PHYSIOLOGICAL and/or a viral infection. The resulting bacterial fibrinous BRONCHOPNEUMONIA is often fatal.Ships: Large vessels propelled by power or sail used for transportation on rivers, seas, oceans, or other navigable waters. Boats are smaller vessels propelled by oars, paddles, sail, or power; they may or may not have a deck.Cerebrosides: 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)Galactosides: Glycosides formed by the reaction of the hydroxyl group on the anomeric carbon atom of galactose with an alcohol to form an acetal. They include both alpha- and beta-galactosides.Lactose: A disaccharide of GLUCOSE and GALACTOSE in human and cow milk. It is used in pharmacy for tablets, in medicine as a nutrient, and in industry.

Lignocellulose degradation by Phanerochaete chrysosporium: purification and characterization of the main alpha-galactosidase. (1/449)

The main alpha-galactosidase was purified to homogeneity, in 30% yield, from a solid culture of Phanerochaete chrysosporium on 1 part wheat bran/2 parts thermomechanical softwood pulp. It is a glycosylated tetramer of 50 kDa peptide chains, which gives the N-terminal sequence ADNGLAITPQMG(?W)NT(?W)NHFG(?W)DIS(?W)DTI. It is remarkably stable, with crude extracts losing no activity over 3 h at 80 degrees C, and the purified enzyme retaining its activity over several months at 4 degrees C. The kinetics of hydrolysis at 25 degrees C of various substrates by this retaining enzyme were measured, absolute parameters being obtained by active-site titration with 2',4',6'-trinitrophenyl 2-deoxy-2, 2-difluoro-alpha-D-galactopyranoside. The variation of kcat/Km for 1-naphthyl-alpha-D-galactopyranoside with pH is bell-shaped, with pK1=1.91 and pK2=5.54. The alphaD(V/K) value for p-nitrophenyl-alpha-D-glucopyranoside is 1.031+/-0.007 at the optimal pH of 3.75 and 1.114+/-0.006 at pH7.00, indicating masking of the intrinsic effect at optimal pH. There is no alpha-2H effect on binding galactose [alphaD(Ki)=0.994+/-0.013]. The enzyme hydrolyses p-nitrophenyl beta-L-arabinopyranoside approximately 510 times slower than the galactoside, but has no detectable activity on the alpha-D-glucopyranoside or alpha-D-mannopyranoside. Hydrolysis of alpha-galactosides with poor leaving groups is Michaelian, but that of substrates with good leaving groups exhibits pronounced apparent substrate inhibition, with Kis values similar to Km values. We attribute this to the binding of the second substrate molecule to a beta-galactopyranosyl-enzyme intermediate, forming an E.betaGal. alphaGalX complex which turns over slowly, if at all. 1-Fluoro-alpha-D-galactopyranosyl fluoride, unlike alpha-D-galactopyranosyl fluoride, is a Michaelian substrate, indicating that the effect of 1-fluorine substitution is greater on the first than on the second step of the enzyme reaction.  (+info)

Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice. (2/449)

Fabry disease is an X-linked metabolic disorder caused by a deficiency of alpha-galactosidase A (alpha-Gal A). The enzyme defect leads to the systemic accumulation of glycosphingolipids with alpha-galactosyl moieties consisting predominantly of globotriaosylceramide (Gb3). In patients with this disorder, glycolipid deposition in endothelial cells leads to renal failure and cardiac and cerebrovascular disease. Recently, we generated alpha-Gal A gene knockout mouse lines and described the phenotype of 10-week-old mice. In the present study, we characterize the progression of the disease with aging and explore the effects of bone marrow transplantation (BMT) on the phenotype. Histopathological analysis of alpha-Gal A -/0 mice revealed subclinical lesions in the Kupffer cells in the liver and macrophages in the skin with no gross lesions in the endothelial cells. Gb3 accumulation and pathological lesions in the affected organs increased with age. Treatment with BMT from the wild-type mice resulted in the clearance of accumulated Gb3 in the liver, spleen, and heart with concomitant elevation of alpha-Gal A activity. These findings suggest that BMT may have a potential role in the management of patients with Fabry disease.  (+info)

Differential expression of three alpha-galactosidase genes and a single beta-galactosidase gene from Aspergillus niger. (3/449)

A gene encoding a third alpha-galactosidase (AglB) from Aspergillus niger has been cloned and sequenced. The gene consists of an open reading frame of 1,750 bp containing six introns. The gene encodes a protein of 443 amino acids which contains a eukaryotic signal sequence of 16 amino acids and seven putative N-glycosylation sites. The mature protein has a calculated molecular mass of 48,835 Da and a predicted pI of 4.6. An alignment of the AglB amino acid sequence with those of other alpha-galactosidases revealed that it belongs to a subfamily of alpha-galactosidases that also includes A. niger AglA. A. niger AglC belongs to a different subfamily that consists mainly of prokaryotic alpha-galactosidases. The expression of aglA, aglB, aglC, and lacA, the latter of which encodes an A. niger beta-galactosidase, has been studied by using a number of monomeric, oligomeric, and polymeric compounds as growth substrates. Expression of aglA is only detected on galactose and galactose-containing oligomers and polymers. The aglB gene is expressed on all of the carbon sources tested, including glucose. Elevated expression was observed on xylan, which could be assigned to regulation via XlnR, the xylanolytic transcriptional activator. Expression of aglC was only observed on glucose, fructose, and combinations of glucose with xylose and galactose. High expression of lacA was detected on arabinose, xylose, xylan, and pectin. Similar to aglB, the expression on xylose and xylan can be assigned to regulation via XlnR. All four genes have distinct expression patterns which seem to mirror the natural substrates of the encoded proteins.  (+info)

Molecular cloning of a human UDP-galactose:GlcNAcbeta1,3GalNAc beta1, 3 galactosyltransferase gene encoding an O-linked core3-elongation enzyme. (4/449)

Using the full-length amino-acid sequences of the human beta1,3 galactosyltransferase (beta3GalT)-I, -II and III enzymes as query, we have identified an additional member of the beta3GalT gene family within a sequenced region of the human chromosome 21 as found in GenBank. The novel human beta3GalT-V gene included an open reading frame of 933 bp encoding a protein of 310 amino acids with a short N-terminal cytoplasmic tail, a single predicted transmembrane domain and a large lumenal catalytic domain. The human beta3GalT-V protein showed 34%, 27%, 31% and 23% sequence identity with the human beta3GalT-I, -II, -III and -IV enzymes, respectively. The expression of beta3GalT-V as a recombinant protein in Sf9 insect cells confirmed the galactosyltransferase activity catalyzed by this enzyme. Similarly to beta3GalT-I, -II and -III, the beta3GalT-V enzyme used beta-linked GlcNAc as an acceptor, but unlike the former enzymes beta3GalT-V exhibited a marked preference for the O-linked core3 GlcNAcbeta1,3GalNAc substrate. The beta3GalT-V gene was mainly expressed in human small intestine and to a lesser extent in pancreas and testis. Although beta3GalT-V transcripts were not detected in normal colon tissue, based on Northern analysis, beta3GalT-V mRNA was found in the adenocarcinoma cell line Colo 205.  (+info)

Fifteen-year follow-up of a heterozygous Fabry's disease patient associated with pre-excitation syndrome. (5/449)

A 47-year-old woman with heterozygous Fabry's disease with pre-excitation syndrome has been followed up for 15 years. Diagnosis was confirmed by the typical electron microscopic feature of the endomyocardial specimen and a decreased plasma alpha-galactosidase activity. As the disease progressed, the interventricular septum thickened from 11 to 17 mm as measured by echocardiography, while the AH interval was prolonged from 80 to 140 msec. In Fabry's disease, the PR interval has been reported to be variable from short PR to AV block. Therefore, this case may be helpful to understand the time course in the AV conduction abnormalities with the progression of Fabry's disease.  (+info)

Purification and characterization of recombinant Mortierella vinacea alpha-galactosidases I and II expressed in Saccharomyces cerevisiae. (6/449)

The cDNAs coding for Mortierella vinacea alpha-galactosidases I and II were expressed in Saccharomyces cerevisiae under the control of the yeast GAL10 promoter. The recombinant enzymes purified to homogeneity from the culture filtrate were glycosylated, and had properties identical to those of the native enzymes except for improving the heat stability of alpha-galactosidase II and decreasing the specific activities of both enzymes.  (+info)

Cloning of the gene encoding a novel thermostable alpha-galactosidase from Thermus brockianus ITI360. (7/449)

An alpha-galactosidase gene from Thermus brockianus ITI360 was cloned, sequenced, and expressed in Escherichia coli, and the recombinant protein was purified. The gene, designated agaT, codes for a 476-residue polypeptide with a calculated molecular mass of 53, 810 Da. The native structure of the recombinant enzyme (AgaT) was estimated to be a tetramer. AgaT displays amino acid sequence similarity to the alpha-galactosidases of Thermotoga neapolitana and Thermotoga maritima and a low-level sequence similarity to alpha-galactosidases of family 36 in the classification of glycosyl hydrolases. The enzyme is thermostable, with a temperature optimum of activity at 93 degrees C with para-nitrophenyl-alpha-galactopyranoside as a substrate. Half-lives of inactivation at 92 and 80 degrees C are 100 min and 17 h, respectively. The pH optimum is between 5.5 and 6.5. The enzyme displayed high affinity for oligomeric substrates. The K(m)s for melibiose and raffinose at 80 degrees C were determined as 4.1 and 11.0 mM, respectively. The alpha-galactosidase gene in T. brockianus ITI360 was inactivated by integrational mutagenesis. Consequently, no alpha-galactosidase activity was detectable in crude extracts of the mutant strain, and it was unable to use melibiose or raffinose as a single carbohydrate source.  (+info)

Gene assignment in the spider monkey (Ateles paniscus chamek--APC): APE-MYH7 to 2q; AR-GLA-F8C to the X chromosome. (8/449)

Comparative gene assignment between the spider monkey species Ateles paniscus chamek (APC) and man (HSA) showed conserved syntenic associations despite extensive karyotypic rearrangement between species. Two HSA 14q genes were allocated to APC 2q, being syntenic to other HSA 14q and HSA 15q markers previously assigned to APC 2q, and to HSA 12q genes previously assigned to APC 2p. These findings were consistent with A. geoffroyi chromosome painting with human whole-chromosome probes, indicating that the genus Ateles is karyotypically very rearranged. On the other hand, three human X-linked markers were assigned to the Ateles X chromosome, indicating that this chromosome is evolutionary stable.  (+info)

*Alpha-galactosidase

Beta-galactosidase Migalastat, a drug targeting alpha-galactosidase Classification of α-galactosidases (according to CAZy) ... Dean KJ, Sweeley CC (1979). "Studies on human liver alpha-galactosidases. I. Purification of alpha-galactosidase A and its ... Alpha-galactosidase is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and ... Two recombinant forms of alpha-galactosidase are called agalsidase alpha (INN) and agalsidase beta (INN). This enzyme is a ...

*Capsular-polysaccharide endo-1,3-alpha-galactosidase

... at the US National Library of Medicine Medical Subject Headings (MeSH) ... Capsular-polysaccharide endo-1,3-alpha-galactosidase (EC 3.2.1.87, polysaccharide depolymerase, capsular polysaccharide ... alpha-D-galactosidic linkages in Aerobacter aerogenes capsular polysaccharide Hydrolyses the galactosyl-alpha-1,3-D-galactose ...

*Blood group B branched chain alpha-1,3-galactosidase

Heparanase (EC 3.2.1.166, Hpa1 heparanase, Hpa1, heparanase 1, heparanase-1, C1A heparanase, HPSE) is an enzyme with systematic name heparan sulfate N-sulfo-D-glucosamine endoglucanase. This enzyme catalyses the following chemical reaction endohydrolysis of (1->4)-beta-D-glycosidic bonds of heparan sulfate chains in heparan sulfate proteoglycan Heparanase cleaves the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying either a 3-O-sulfo or a 6-O-sulfo group. Heparanase Bame, K.J. (2001). "Heparanases: endoglycosidases that degrade heparan sulfate proteoglycans". Glycobiology. 11 (6): 91R-98R. doi:10.1093/glycob/11.6.91r. PMID 11445547. Peterson, S.B.; Liu, J. (2010). "Unraveling the specificity of heparanase utilizing synthetic substrates". J. Biol. Chem. 285 (19): 14504-14513. doi:10.1074/jbc.M110.104166. PMC 2863188 . PMID 20181948. Pikas, D.S.; Li, J.P.; Vlodavsky, I.; Lindahl, U. (1998). "Substrate specificity of heparanases from human hepatoma and platelets". J. ...

*Blood group B linear chain alpha-1,3-galactosidase

Baicalin-beta-D-glucuronidase (EC 3.2.1.167, baicalinase) is an enzyme with systematic name 5,6,7-trihydroxyflavone-7-O-beta-D-glucupyranosiduronate glucuronosylhydrolase. This enzyme catalyses the following chemical reaction baicalin + H2O ⇌ {\displaystyle \rightleftharpoons } baicalein + D-glucuronate The enzyme also hydrolyses wogonin 7-O-beta-D-glucuronide and oroxylin 7-O-beta-D-glucuronide with lower efficiency. Ikegami, F.; Matsunae, K.; Hisamitsu, M.; Kurihara, T.; Yamamoto, T.; Murakoshi, I. (1995). "Purification and properties of a plant β-D-glucuronidase form Scutellaria root". Biol. Pharm. Bull. 18: 1531-1534. doi:10.1248/bpb.18.1531. PMID 8593473. Zhang, C.; Zhang, Y.; Chen, J.; Liang, X. (2005). "Purification and characterization of baicalin-β-D-glucuronidase hydrolyzing baicalin to baicalein from fresh roots of Scutellaria viscidula Bge". Proc. Biochem. 40: 1911-1915. doi:10.1016/j.procbio.2004.07.003. Sasaki, K.; Taura, F.; Shoyama, Y.; Morimoto, S. (2000). "Molecular ...

*Glycoside hydrolase family 4

6-phospho-alpha-glucosidase (EC 3.2.1.122); alpha-galactosidase (EC 3.2.1.22). 6-phospho-alpha-glucosidase requires both NAD(H ... dependent 6-phospho-alpha-glucosidase. Assignment to family 4 of the glycosylhydrolase superfamily". J. Biol. Chem. 273 (42): ...

*Galactosidases

If the galactoside is classified as an alpha-galactoside, the enzyme is called alpha-galactosidase, and is responsible for ... producing the alpha fragment and allowing for B-galactosidase to gain its activity. To trace the activity of B-galactosidase a ... Lack of alpha-galactosidase activity in leukocytes has been linked to Fabry Disease. Galactosidases have a variety of uses, ... the alpha-fragment gene would be inactive and the alpha fragment won't be produced. In that case B-galactosidase will not be ...

*Glycoside hydrolase family 27

Alpha-galactosidase is present in a variety of organisms. There is a considerable degree of similarity in the sequence of alpha ... a superfamily of alpha-galactosidases, alpha-N-acetylgalactosaminidases, and isomaltodextranases which are likely to share a ... contains a region of about 50 amino acids which is similar to a domain of the eukaryotic alpha-galactosidases. Alpha-N- ... galactosidase from various eukaryotic species. Escherichia coli alpha-galactosidase (gene melA), which requires NAD and ...

*Glycoside hydrolase family 31

... alpha-galactosidase (EC 3.2.1.22); glucoamylase (EC 3.2.1.3), sucrase-isomaltase (EC 3.2.1.48) (EC 3.2.1.10); alpha-xylosidase ... van Beeumen J, Kroos MA, Oostra BA, Hermans MM, Reuser AJ (1991). "Human lysosomal alpha-glucosidase. Characterization of the ... Glycoside hydrolase family 31 CAZY GH_31 comprises enzymes with several known activities; alpha-glucosidase (EC 3.2.1.20), ... Homology with the rabbit intestinal sucrase-isomaltase complex and human lysosomal alpha-glucosidase". Eur. J. Biochem. 202 (2 ...

*Beano (dietary supplement)

It contains the enzymes alpha-galactosidase (α-GAL) and invertase. It was introduced as a liquid, but that has been ... "The effect of oral alpha-galactosidase on intestinal gas production and gas-related symptoms". Dig. Dis. Sci. 52 (1): 78-83. ... A double-blind crossover study of oral alpha-galactosidase to treat dietary oligosaccharide intolerance". J Fam Pract. 39 (5): ...

*Globotriaosylceramide

It is metabolized by alpha-galactosidase, which hydrolyzes the terminal alpha linkage. Defects in the enzyme alpha- ... The pharmaceutical drug migalastat enhances the function of alpha-galactosidase and is used to treat Fabry's. ... a-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases ... It is formed by the alpha linkage of galactose to lactosylceramide catalyzed by A4GALT. ...

*Fabry disease

Fabrazyme (agalsidase beta, or Alpha-galactosidase) was licensed to the Genzyme Corporation. It is an enzyme replacement ... A deficiency of the enzyme alpha galactosidase A (a-GAL A, encoded by GLA) due to mutation causes a glycolipid known as ... to measure the level of alpha-galactosidase activity. An enzyme assay is not reliable for the diagnosis of disease in females ... The pharmaceutical company Shire manufactures agalsidase alpha (which differs in the structure of its oligosaccharide side ...

*Penicillium ochrochloron

doi:10.1007/s12257-010-0069-0. Dey PM1, Patel S, Brownleader MD (June 1993). "Induction of alpha-galactosidase in Penicillium ...

*List of recombinant proteins

... pegfilgrastim sold as Neulasta alpha-galactosidase A: Fabrazyme by Genzyme alpha-L-iduronidase: (rhIDU; laronidase) Aldurazyme ...

*Migalastat

The enzyme alpha-galactosidase A (α-GalA) Globotriaosylceramide (Gb3), a substrate of α-GalA, has a terminal D-galactose ... "The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines". ... of Fabry disease in adults and adolescents aged 16 or older with an amenable mutation of the enzyme alpha-galactosidase A (α- ... ISBN 0-470-03391-6. Miyake, Y; Ebata, M (1988). "The structures of a β-galactosidase inhibitor, Galactostatin, and its ...

*Streptomyces griseoloalbus

Anisha, GS; Sukumaran, RK; Prema, P (March 2008). "Evaluation of alpha-galactosidase biosynthesis by Streptomyces griseoloalbus ... Anisha, G. S.; John, Rojan P.; Prema, P.; Pandey, Ashok (4 September 2008). "Investigation on α-Galactosidase Production by ... Anisha, G. S.; Prema, P. (5 December 2006). "Production of α-galactosidase by a novel actinomycete Streptomyces griseoloalbus ... "Production and characterization of partially purified thermostable α-galactosidases from Streptomyces griseoloalbus for food ...

*Glycoside hydrolase family 97

The non-catalytic domains of glycosidases from the alpha-galactosidase and alpha-glucosidase superfamilies are also ... Naumoff DG (2005). "GH97 is a new family of glycoside hydrolases, which is related to the alpha-galactosidase superfamily". BMC ... In all known glycosidases with the (beta-alpha)8-barrel fold, the amino acid residues at the active site are located on the C- ... The central part of the GH97 family protein sequences represents a typical and complete (beta/alpha)8-barrel or catalytic TIM- ...

*FODMAP

Supplements of the enzyme supplement alpha-galactosidase may reduce symptoms (if brands containing other FODMAPs are avoided). ...

*Blue-white screen

"Molecular basis of beta-galactosidase alpha-complementation". Proceedings of the National Academy of Sciences of the United ... β-galactosidase is a protein encoded by the lacZ gene of the lac operon, and it exists as a homotetramer in its active state. ... The presence of an active β-galactosidase can be detected by X-gal, a colourless analog of lactose that may be cleaved by β- ... However, a mutant β-galactosidase derived from the M15 strain of E. coli has its N-terminal residues 11-41 deleted and this ...

*Robert J. Desnick

Cloning and expression of biologically active alpha-galactosidase A as a fusion protein". "USPTO: Cloning and expression of ... biologically active alpha N-acetylgalactosaminidase". "USPTO: Cloning and expression of biologically active alpha-galactosidase ... "Cloning and expression of biologically active human alpha-galactosidase A". The Mount Sinai Hospital homepage Icahn School of ... National Institute of Diabetes and Digestive and Kidney Diseases Alpha Galactosidases A And B -- Molecular and Cellular ...

*Aspergillus sydowii

... contains an alpha-galactosidase enzyme; this enzyme, which hydrolyses the terminal alpha-galactosyl moieties from glycolipids ... Cai GL, Lu J (2012). "Isolation and identification of a novel Aspergillus sydowii F5 Producing alpha-galactosidase and ... is used in enzyme replacement therapy to functionally compensate for genetic alpha-galactosidase deficiency. "Aspergillus ...

*Galactosylgalactosylglucosylceramidase

... ceramidetrihexoside alpha-galactosidase, trihexosylceramide alpha-galactosidase, and ceramidetrihexosidase. Brady RO, Gal AE, ... Other names in common use include trihexosyl ceramide galactosidase, ceramide trihexosidase, ...

*Genetically modified organism

Other genetically modified pigs have had alpha galactosidase transferase knocked out and fortified with hCD46 and the hTM ... Human-alpha-1-antitrypsin, which has been tested in sheep and is used in treating humans with this deficiency and transgenic ... These include alpha-amylase from bacteria, which converts starch to simple sugars, chymosin from bacteria or fungi, which clots ... "Transgenic pigs designed to express human α-galactosidase to avoid humoral xenograft rejection". J Appl Genet. 54 (3): 293-303 ...

*60S ribosomal protein L36a

1995). "Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine ...

*Protalix BioTherapeutics

... plant cell culture expressed and a chemically modified version of the recombinant alpha-Galactosidase-A protein. Protein sub- ...

*Aspergillus niger

Alpha-galactosidase, an enzyme that breaks down certain complex sugars, is a component of Beano and other products that ...

*Enzyme inhibitor

... alpha K_{m}+\alpha ^{\prime }[S]}}={\frac {(1/\alpha ^{\prime })V_{max}[S]}{(\alpha /\alpha ^{\prime })K_{m}+[S]}}} where the ... Modeling β-galactosidase and butyrylcholinesterase". Biochimica et Biophysica Acta (BBA) - General Subjects. 1770 (5): 733-746 ... alpha =1+{\frac {[I]}{K_{i}}}} α ′ = 1 + [ I ] K i ′ . {\displaystyle \alpha ^{\prime }=1+{\frac {[I]}{K_{i}^{\prime }}}.} Thus ... An example of a toxic peptide is alpha-amanitin, which is found in relatives of the death cap mushroom. This is a potent enzyme ...
Agalsidase beta is a man-made form of the naturally-occurring alpha-galactosidase A enzyme. A deficiency of this enzyme is called Fabry disease. Agalsidase beta reduces deposits of globotriaosylceramide (GL-3) in the kidneys and certain other cells in the body. Agalsidase beta is used in the treatment of Fabry disease...
Raffinose oligosaccharides (RO) are the major factors responsible for flatulence following ingestion of soybean-derived products. Removal of RO from seeds or soymilk would then have a positive impact on the acceptance of soy-based foods. In this study, alpha-galactosidase from Aspergillus oryzae was entrapped in gelatin using formaldehyde as the hardener. The immobilization yield was 64.3% under the optimum conditions of immobilization. The immobilized alpha-galactosidase showed a shift in optimum pH from 4.8 to 5.4 in acetate buffer. The optimum temperature also shifted from 50 degrees C to 57 degrees C compared with soluble enzyme. Immobilized alpha-galactosidase was used in batch, repeated batch and continuous mode to degrade RO present in soymilk. In the repeated batch, 45% reduction of RO was obtained in the fourth cycle. The performance of immobilized alpha-galactosidase was tested in a fluidized bed reactor at different flow rates and 86% reduction of RO in soymilk was obtained at 25 ml ...
Fabry disease is an X-linked lysosomal storage disorder due to deficient activity of alpha-galactosidase A (α-Gal A) leading to renal insufficiency in males. The aim of present study was to investigate the level of α-Gal A activity and to determine
Learn about Fabrazyme (Agalsidase Beta) may treat, uses, dosage, side effects, drug interactions, warnings, patient labeling, reviews, and related medications.
Semantic Scholar extracted view of Molecular pathology of Fabrys disease. Physical and kinetic properties of alpha-galactosidase A in cultured human endothelial cells. by Douglas L. Johnson et al.
Detailed Agalsidase Beta dosage information for adults and children. Includes dosages for Fabry Disease; plus renal, liver and dialysis adjustments.
The Lens serves almost all the patents and scholarly work in the world as a free, open and secure digital public good, with user privacy a paramount focus.
4FNT: The molecular mechanism of the thermostable alpha-galactosidases AgaA and AgaB explained by X-ray crystallography and mutational studies
GF ID He_PIG_assoc #=GF AC PF10632.8 #=GF DE He_PIG associated, NEW1 domain of bacterial glycohydrolase #=GF AU Naumoff D, Coggill P #=GF SE Pfam-B_97991 (release 22.0) #=GF GA 25.00 25.00; #=GF TC 25.20 30.80; #=GF NC 22.50 23.40; #=GF BM hmmbuild HMM.ann SEED.ann #=GF SM hmmsearch -Z 26740544 -E 1000 --cpu 4 HMM pfamseq #=GF TP Domain #=GF RN [1] #=GF RM 15285616 #=GF RT [Phylogenetic analysis of alpha-galactosidases of the GH27 #=GF RT family]. #=GF RA Naumov DG; #=GF RL Mol Biol (Mosk). 2004;38:463-476. #=GF RN [2] #=GF RM 16131397 #=GF RT GH97 is a new family of glycoside hydrolases, which is related #=GF RT to the alpha-galactosidase superfamily. #=GF RA Naumoff DG; #=GF RL BMC Genomics. 2005;6:112. #=GF DR INTERPRO; IPR019599; #=GF CC The English-language version of the first reference can be found #=GF CC on pages 388-399 of the above. This domain has been named NEW1 #=GF CC but its actual function is not known. It is found on proteins #=GF CC which are bacterial galactosidases [1]. The ...
A List with 7,449 English Words From Letters ALPHA-D-GALACTOSIDASE -- FindTheWord.info is a search engine for English words. FindTheWord.info searches for partial words (both crossword solver and part of word), help with cheating in Scrabble and Wordfeud, finds anagrams, palindromes, and words in word, and much more.The dictionary used contains more than 589,000 English words.
The Bayh-Dole Act was designed to help universities better commercialize research in order to get those innovations out to market. For a variety of reasons, Ive argued that the law has failed significantly in this regard, but these patients are picking up on a key part of Bayh-Dole, which is that the law was put in place to prevent patentees from denying citizens access to publicly funded inventions. It thus may require that certain standards be met when it comes to federally funded inventions -- which Fabrazyme certainly is. The law specifically says that it was put in place to "protect the public against nonuse or unreasonable use of inventions." And since the plaintiffs feel that this is the case here, theyre arguing that theyre now able to recover damages (though youd have to imagine theyd prefer full doses). If that argument succeeds, it could lead to a very interesting series of follow-up cases concerning other federally-funded inventions ...
All 58 patients in Study 1 participated in an open-label extension study of Fabrazyme (agalsidase beta) at 1 mg/kg every two weeks, which continued for an additional 54 months. At the end of six months of open-label treatment, most patients achieved a GL-3 inclusion score of 0 in capillary endothelium (Table 4). GL-3 was decreased to normal or near normal levels in mesangial cells, glomerular capillary endothelium, interstitial cells, and non-capillary endothelium. GL-3 deposition was still present in vascular smooth muscle cells, tubular epithelium and podocytes, at variably reduced levels. Forty-four of the 58 patients completed 54 months of the open-label extension study. Thirty-six of these 44 patients underwent follow-up skin biopsy, and 31 of these patients showed sustained GL-3 clearance in the capillary endothelium of the skin. Follow-up heart and kidney biopsies were assessed in only 8 of the 44 patients, which showed sustained GL-3 clearance in the capillary endothelium of the kidney ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
In that case, lead plaintiff Joseph Carik, who has a doctors prescription for Fabrazyme, claimed: "By and through FDA consent, plaintiff has been banned interstate access to FDA-approved doses of Fabrazyme during a drug shortage created by Genzyme (a Sanofi company) an FDA licensee. Plaintiff is instead forcibly injected with a diluted, unregulated, unapproved dose of Fabrazyme because if the plaintiff refuses infusion of the unapproved dose, then the FDA licensee will withdraw any access and not provide future access to the drug until the shortage is over. The United States defendants have delegated all medical decisions during the shortage regarding plaintiffs disease, life, and health to the sole discretion and control of a corporation regulated by and through grant of an FDA license ...
FAGPL : Draw blood in a plain red-top tube(s), serum gel tube(s) is acceptable. Spin down and send 2 mL of serum refrigerated in a plastic vial.
Berechnung des absoluten Risiko in %, innerhalb von 10 Jahren ein tödliches Koronaereignis (z.B. Herzinfarkt) oder einen nicht-tödlichen Herzinfarkt zu erleiden.. ...
... My laboratory is investigating various aspects of how the immune system carries out surveillance to detect viral infections, cancers and cell death. Among the areas of research are: (1) The alarm signals and the receptors that alert the immune system to potential danger; (2) The mechanisms by which sentinel cells (dendritic cells) acquire and display antigens to CD8 T cells (cross presentation), a process that is essential for immune surveillance of tissues; and, (3) The antigen presentation pathway by which virally infected or cancer cells display their antigens to effector CD8 T cells (MHC class I antigen presentation), a process that is essential for the immune system to detect and eliminate these pathological cells. The laboratory is in a new state of the art research building and part of a very strong and interactive immunology community at UMass Medical School. UMass Medical School is located in Worcester Massachusetts, just outside of Boston. Interested ...
Background: Anderson-Fabry disease is a multisystem X linked disorder of lipid metabolism frequently associated with cardiac symptoms, including left ventricular (LV) hypertrophy gradually impairing cardiac function. Evidence showing that enzyme-replacement therapy (ERT) can be effective in reducing LV hypertrophy and improving myocardial function in the long term is limited. Objective: This study aimed to assess the long-term effects of ERT with recombinant α-galactosidase A (agalsidase beta, Fabrazyme) on LV function and myocardial signal intensity in 11 patients with Anderson-Fabry disease. Patients: Eleven patients (eight males, three females) with varying stages of genetically confirmed Anderson-Fabry disease were examined by means of physical examination and magnetic resonance imaging before ERT with agalsidase beta at 1 mg/kg every other week (study 1) and after a mean treatment duration of 45 months (study 2). Results: At 45 months of treatment, LV mass and LV wall thickness had ...
Fabry disease is an X-linked lysosomal storage disorder resulting from deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A) and the subsequent deposition of glycosylsphingolipids in tissues throughout the body, in particular, the kidney, heart, and brain. Fabry disease is due to mutations within the GLA gene, and more than 630 mutations have been identified in individuals diagnosed with Fabry disease. Severity and onset of symptoms are dependent on the amount of residual enzyme activity. The classic form of Fabry disease occurs in males who have less than 1% alpha-Gal A activity. Symptoms usually appear in childhood or adolescence and can include acroparesthesias (burning pain in the extremities), gastrointestinal issues, multiple angiokeratomas, reduced or absent sweating, corneal opacity, and proteinuria. In addition, progressive renal involvement leading to end-stage renal disease typically occurs in adulthood, followed by cardiovascular and cerebrovascular disease. The ...
Journal: EJNMMI - European Journal of Nuclear Medicine and Molecular Imaging ArticleTitle: Cardiac sympathetic neuronal damage precedes myocardial fibrosis in patients with Anderson-Fabry disease
This study will collect data needed to design a treatment trial for patients with Fabry disease using the experimental drug AT-1001. Fabry disease is an inherited metabolic disorder in which an enzyme called alpha-galactosidase A, which normally breaks down fatty substances called glycolipids, is missing or does not function properly. As a result, glycolipids accumulate in various tissues, causing liver, kidney, nerves, skin, muscle and blood vessel problems. No treatment is given in this survey study.. Males 18 years of age and older with Fabry disease who have certain genetic mutations associated with enhancement of alpha-galactosidase A activity may be eligible for this study. Participants undergo the following tests and procedures over 5 days:. Day 1. Medical history and physical examination, blood tests, electrocardiogram (EKG), routine urinalysis, measurements of height, weight, and vital signs (blood pressure, heart rate, breathing rate, and temperature).. Day 2. Blood tests, 24-hour ...
People with Fabry Disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme. Fabrazyme (agalsidase beta) is a drug that helps to break down and removes certain types of fatty substances called glycolipids. These glycolipids are normally present within the body in most cells. In Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid (globatriaosylceramide or GL-3) levels in these tissues in particular is thought to cause the clinical symptoms that are common to Fabry disease. This study analyzed the safety and efficacy of Fabrazyme in the treatment of patients with Fabry disease that previously participated in the AGAL-008-00 (NCT0074984) study ...
BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain MRI results are often abnormal. Purpose: The aim of the study was to describe CNS involvement in a group of Italian patients with AFD. METHODS: Clinical and brain MRI data of 43 patients with AFD (25 men, 41.94+/-10.83 years old and 18 women, 52.48+/-17.50 years old) were analysed retrospectively. 17 male patients and 7 female patients were under treatment with enzyme replacement therapy (ERT). RESULTS: All 43 patients had signs or symptoms of AFD. 16 men (64%) and 13 women (72%) demonstrated CNS involvement, although with varying severity. Overall, 6 men and 5 women had suffered from cerebrovascular accidents with an age at onset of 33.64+/-13.65 years and 53.68+/-11.71 years, respectively. Brain MR images were abnormal in 16/25 men and in 13/16 women. During CNS monitoring, ...
Release: Dec. 4, 2002. Childrens Hospital of Iowa to test new treatment for Fabry disease. The Childrens Hospital of Iowa at University of Iowa Hospitals and Clinics will be one of 20 medical centers to take part in a major international study of a new treatment for Fabry disease, a rare genetic disorder that affects an estimated 1 in 40,000 males worldwide. The goal of the trial is to determine the safety and efficacy of recombinant human alpha-galactosidase A (Fabrazyme) on the progression of renal disease and significant clinical events in patients with Fabry disease. This will be a Phase IV multi-center, multinational, randomized, double-blind, placebo-controlled trial. Because Fabry disease is a rare genetic disorder, centers will need to work aggressively to identify patients to take part in this study. We will be working with families, Fabry patient organizations and medical centers throughout our area to identify patients for this very important clinical trial. We are very pleased to ...
Introduction. Fabry disease is a rare genetic lysosomal storage disorder of glycosphingolipids with X-linked transmission and an estimated incidence of 1:40,000-1:117,000 live male births.1 Partial or complete deficiency of the enzyme alpha-galactosidase A (a-Gal A) results in altered metabolism and progressive lysosomal accumulation of the substrate (mostly globotriaosylceramide, Gb3).2 The responsible gene is located on the long arm of the chromosome X (Xq22). More than 600 mutations have been identified with variable phenotypical expression.3. Clinically we distinguish the classical form and two variants, cardiac and renal. In the classical form clinical manifestations appear during childhood or early adolescence including acroparesthesias, angiokeratomas and corneal opacities.4 Progressive accumulation of Gb3 in the kidneys, heart and central nervous system lead to renal failure, hypertrophic cardiomyopathy and cerebral vascular accidents limiting life expectancy. The cardiac variant of the ...
BACKGROUND: We analysed 5-year treatment with agalsidase alfa enzyme replacement therapy in patients with Fabrys disease who were enrolled in the Fabry Outcome Survey observational database (FOS). METHODS: Baseline and 5-year data were available for up to 181 adults (126 men) in FOS. Serial data for cardiac mass and function, renal function, pain, and quality of life were assessed. Safety and sensitivity analyses were done in patients with baseline and at least one relevant follow-up measurement during the 5 years (n=555 and n=475, respectively). FINDINGS: In patients with baseline cardiac hypertrophy, treatment resulted in a sustained reduction in left ventricular mass (LVM) index after 5 years (from 71.4 [SD 22.5] g/m(2.7) to 64.1 [18.7] g/m(2.7), p=0.0111) and a significant increase in midwall fractional shortening (MFS) from 14.3% (2.3) to 16.0% (3.8) after 3 years (p=0.02). In patients without baseline hypertrophy, LVM index and MFS remained stable. Mean yearly fall in estimated glomerular ...
The specific treatment available for Fabry disease (FD) is enzyme replacement therapy (ERT) with agalsidase alfa or beta. A systematic review and meta-analysis was conducted to assess the efficacy and safety of ERT for FD. Only double-blind, randomized clinical trials (RCTs) comparing agalsidase alfa or beta and placebo were included. ERT with either agalsidase alfa or beta was considered similar for the purposes of analysis. Ten RCTs were identified, which showed improvements in neuropathic pain, in heart abnormalities and in globotriaosylceramide (GL-3) levels. A meta-analysis showed increased odds for fever, rigors, development of IgG antibodies to agalsidase, and no significant association with development of hypertension or reduction in the QRS complex duration on electrocardiogram. The RCTs included in this comparison enrolled few patients, were highly heterogeneous, and were focused mainly on surrogate endpoints, limiting any conclusions as to the real effect of ERT for FD. The available ...
Dear editor,. Recently, Tanaka and co-workers published a report in the Journal of Inherited Metabolic Disorders on the treatment of a young male with Fabry disease who developed an immunoglobulin E (IgE) response toward one of the two available enzyme preparations (agalsidase beta) but not to the other (agalsidase alpha) (Tanaka et al. 2010). As has been shown by several groups, the emergence of IgG antibodies toward the infused enzyme alpha galactosidase occurs frequently in male Fabry disease patients (Linthorst et al. 2004; Whitfield et al. 2005; Ohashi et al. 2007), irrespective of the enzyme preparation used. In these studies, cross-reactivity was shown: in anti-agalsidase IgG-positive patients, these antibodies were always equally reactive toward either agalsidase alpha or beta, again irrespective of the enzyme preparation given to the patient. The presence of anti-agalsidase IgG results in less urinary GL-3 clearance and is associated with infusion-associated events (Linthorst et al. ...
Fabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabry disease management. Involvement of kidney, heart and the central nervous system shortens life span, and fibrosis of these organs is a hallmark of the disease. Fibrosis was initially thought to result from tissue ischemia secondary to endothelial accumulation of glycosphingolipids in the microvasculature. However, despite ready clearance of endothelial deposits, ERT is less effective in patients who have already developed fibrosis. Several potential explanations of this clinical observation may impact on the future management of Fabry disease. Alternative molecular pathways linking glycosphingolipids and fibrosis may be operative; tissue injury may recruit secondary molecular mediators of fibrosis that are unresponsive to ERT, or fibrosis may represent irreversible tissue injury that ...
In this paper, two cases of renal biopsy showing identical lipid deposits were presented. In the first case, these lipid deposits were due to inhibition of intralysosomal alpha-galactosidase A activity (presumable hydroxychloroquine-induced renal phospholipidosis) and in the second case, due to a mutation in the gene encoding the referred enzyme.. FD is a X-chromosome linked genetic disorder characterized by disturbance in glycosphingolipid catabolism, caused by a deficiency of the enzyme alpha-galactosidase A. Early signs and symptoms occur from childhood to adolescence and include intermittent paresthesia and acroparesthesia, "Fabry crisis" (episodes of intense pain), recurrent fever, angiokeratomas, cornea verticillata, mild proteinuria, globotriaosylceramide in urinary sediment and digestive symptoms such as both diarrhea and constipation, nausea, vomiting and abdominal cramps. Manifestations in adolescence and adulthood include renal disorders (which can progress to end-stage kidney ...
Fabry disease is an X-linked lysosomal storage disorder that leads to excessive deposition of globotriaosylceramide ( GL-3) throughout the body. Skin, eye, kidney, heart, brain, and peripheral nervous system are highly vulnerable. Fabry disease is often difficult to diagnose since signs and symptoms are often nonspecific.. Symptoms. Many symptoms associated with Fabry disease are nonspecific making it a difficult disease to diagnosis. Not all symptoms may appear nor develop in any particular order. However, younger patients may have some or all of the following:. ...
Introduction. Fabry disease or α-galactosidase A (α-Gal A) deficiency is an X-linked lysosomal storage disorder that often leads to renal insufficiency in males and occasionally in females. The disease is rare, but its prevalence may be underestimated due to its variable clinical picture. Enzyme supplementation therapy with rHu-αGal A is currently available. Limited experience has so far shown that therapy may at best stabilize renal function. Despite these preliminary findings, much effort is being put into screening high-risk groups for undiagnosed α-Gal A deficiency. We studied the prevalence of α-Gal A deficiency in a Dutch dialysis cohort to establish possible underdiagnosis. We discuss the benefits of screening for Fabry disease.. Methods. Activity of α-Gal A in whole blood was measured in a group of 508 male Dutch dialysis patients.. Results. Of the 508 patients studied only one patient, already known with Fabry disease, had a α-Gal A deficiency, a prevalence of 0.22% (95 CI ...
Fabry Disease-Pipeline Review, H1 2017. Summary. Global Markets Directs latest Pharmaceutical and Healthcare disease pipeline guide Fabry Disease-Pipeline Review, H1 2017, provides an overview of the Fabry Disease (Genetic Disorders) pipeline landscape.. Fabry disease is an inherited disorder. Fabry disease results from abnormal deposits of a particular fatty substance (called globotriaosylceramide) in blood vessel walls throughout the body. Symptoms include pain, diarrhea, nausea, kidney problems, tinnitus, irregular heartbeat, and leaky heart valves. Treatment includes enzyme replacement therapy (ERT). Report Highlights. Global Markets Directs Pharmaceutical and Healthcare latest pipeline guide Fabry Disease-Pipeline Review, H1 2017, provides comprehensive information on the therapeutics under development for Fabry Disease (Genetic Disorders), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type. The guide ...
Allcosmeticsource.com alpha galactosidase 2000u/g,5kg/bag,free shipping [EP170508006]- alpha galactosidase 2000u/g,1kg/bag,free shipping What is alpha galactosidase 2000u/g alpha galactosidase is an enzyme used to hydrolyze or break α-1, 6-glycosidic bonds into galactosyl oligosaccharides (α-galactosides), liberating simpler, more usable sugars and eliminating its anti-nutrient effect. Thus, it improves the utilization of the energy and proteins in feedstuff. Function of alpha galactosidase 2000u/g Hydrolyzing
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
This phase IIa drug interaction study investigated migalastat [AT1001; Amicus Therapeutics] with agalsidase alfa [Replagal] and agalsidase beta [Fabrazyme] in
Patients affected by a rare and potentially fatal inherited metabolic disorder called Fabry disease are now benefiting from a new treatment that researchers at Childrens Hospital of Iowa helped create.. Fabry disease affects approximately 5,000 people worldwide. The average lifespan of people diagnosed with the disorder is 50 years. The disease is caused by a deficiency of an enzyme called alpha-galactosidase A. Patients affected by the condition can develop kidney failure, strokes, heart disease and disabling pain. The Food and Drug Administration (FDA) recently approved a medication called Fabrazyme, produced by Genzyme General, for the treatment of Fabry disease. The therapy replaces the missing enzyme in order to help correct the disorder. The treatment took 30 years of research to develop.. Thomas Loew, M.D., associate professor (clinical) at Childrens Hospital of Iowa in University of Iowa Hospitals and Clinics, helped conduct the research that led to the FDAs approval of ...
Canadians with the gene disorder Fabry disease -- many of whom have no access to drug therapy -- will now be able to obtain two staggeringly expensive medications under a new government deal. Fabry patients will enroll in a research study to receive medicine to treat the rare disorder, the Canadian government announced. "Federal and provincial governments and two drug developers are about to enter into a three-year funding agreement to support an independent post-market study of enzyme replacement therapies for Fabry disease," said a draft patient fact-sheet from the federal and provincial governments that was obtained by the Canadian newspaper The Globe and Mail.. An estimated 5,000 people worldwide, including more than 200 people in Canada, have Fabry disease, which primarily afflicts men. Those who inherit the abnormal gene cannot produce enough of a particular fat-eating enzyme. They typically experience pain, difficulty sweating and skin rashes. Although Health Canada has licensed two drugs ...
Background: Fabry disease. an X-linked deficiency of α-galactosidase A coded by the GLA gene, leads to intracellular globotriaosylceramide (GL-3) accumulation. Although less common than in males, chronic kidney disease, occurs in ~15% of females. Recent studies highlight the importance of podocyte injury in Fabry nephropathy development and progression. We hypothesized that the greater the % of podocytes with active wild-type GLA gene (due to X-inactivation of the mutant copy) the less is the overall podocyte injury. Methods: Kidney biopsies from 12 treatment-naive females with Fabry disease, ages 15 (8-63), median [range], years were studied by electron microscopy and compared with 4 treatment-naive male patients.. Results: In females, 51 (13-100)% of podocytes (PC) per glomerulus had no GL-3 inclusions, this consistent with a non-Fabry podocyte phenotype (NFPC). In PC with GL-3 inclusions [Fabry podocyte phenotype (FPC)], GL-3 volume density per podocyte was virtually identical in females and ...
Cardiac microvascular function abnormalities in Fabry patients have been demonstrated by measurements of myocardial blood flow and coronary flow reserve, an index of microvascular function.14 In addition, a survey of female Fabry patients revealed that cardiac ischemia could be confirmed by ECG and serological markers in the absence of coronary artery stenosis, suggesting that the ischemia in these patients was of microvascular origin.11 However, widespread coronary artery disease also has been documented in Fabry patients15 and noted at autopsy in a male patient who died of a massive myocardial infarction.16 In the present study, we characterized the baseline pathology of GL-3 accumulation in cardiac biopsies and demonstrated its successful clearance from the microvasculature after enzyme replacement therapy.. It has long been established that GL-3 is transported in low- and high-density lipoprotein particles17-19 and that vascular cells accumulate GL-3 from the circulation through the ...
The combination of angiokeratomas, signs of concentric left ventricular hypertrophy and a right bundle branch block pattern of ECG and fibrosis on MRI suggest the presence Fabry disease. Upon inquiry it appeared that his brother was diagnosed with Fabry disease. Fabry disease (or Anderson-Fabry disease) is an X-linked glycolipid storage disease. As a result of α-Galactosidase A deficiency, globotriaosylceramide (Gb3) accumulates in lysosomes in a wide variety of cells; primarily in kidneys, heart and brain. Progression of disease leads to progressive tissue damage and organ failure and survival is greatly reduced.(1) As it is an X-linked disease, it was thought that only males could be affected by this gene defect but the disease is detected in women as well, although often later in life and less fulminant.(2 ...
Fabry disease is a rare enzyme deficiency known as a lysosomal storage disease. Wikipedia The enzyme involved, alpha galactosidase A, is coded by the GLA gene. OMIM Although Fabry disease has been considered an X-linked recessive condition, female carriers of a single mutated GLA gene may have significant symptoms. Enzyme replacement therapy is helpful, although it is currently extremely expensive, and production problems have led to shortages of the drug. [1] ...
Clark, NE, Garman, SC. The 1.9 A structure of human alpha-N-acetylgalactosaminidase: The structural basis of Schindler and Kanzaki diseases. Journal of Molecular Biology. 2009, Oct 23;393(2):435-447. [PubMed]. Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, Fan JQ. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. Biochem J. 2007 Sep 1;406(2):285-95.[PubMed]. Hebert DN, Garman SC, Molinari M. (2005) "The glycan code of the endoplasmic reticulum: asparagine-linked carbohydrates as protein maturation and quality-control tags." Trends Cell Biol. Jul;15(7):364-70. Review.[PubMed]. Su HP, Garman SC, Allison TJ, Fogg C, Moss B, Garboczi DN. (2005) "The 1.51-Angstrom structure of the poxvirus L1 protein, a target of potent neutralizing antibodies." Proc Natl Acad Sci U S A. Mar 22;102(12):4240-5. Epub 2005 Mar 10. [PubMed]. Ries ...
In this article, alpha-galactosidase A activity was assayed in newborn screening blood spots of Italian male neonates. This study revealed a high incidence of later-onset Fabry disease.. For more information on Fabry disease, see chapter 150 of OMMBID ...
Figure 1. Cardiac hypertrophy in a patient with Fabry disease. A. and B. Concentric LV hypertrophy. Note the presence of a hyperechogenic region in the posterior wall (mid-wall level, arrow), corresponding to localized fibrosis. C. Right ventricular free wall hypertrophy from subcostal view.. In most cases of FD, the LVH is concentric and non-obstructive; however, an asymmetrical hypertrophy with septal thickening and posterior wall fibrotic thinning may present in advanced cases. There have also been rare case reports of patients with obstructive forms of hypertrophic cardiomyopathy. The LVH is progressive in nature, and is rarely severe in children or adolescents. Of note, the echocardiographically derived cardiac mass is proportional to the electrocardiographic LVH low-voltage on the ECG, presenting an argument against Fabry disease in these patients.. Right ventricular (RV) hypertrophy is also common [9] (around 70% of Fabry patients display it) and may progress to RV dilation (Figure 1C). ...
Cardiovascular complications due to the accumulation of globotriaosylceramide in cardiac cells occur in almost all patients affected by Anderson-Fabry disease. Cardiac manifestations include left ventricular hypertrophy, mitral regurgitation, conduct
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder frequently associated with cerebrovascular disease. In recent years, the prevalence of FD has been reported to be up to 4% in cryptogenic young stroke patients. However, there have been no population-based studies in unselected patients with transient ischaemic attack (TIA) or stroke across the full range of ages. METHODS: We determined the prevalence of FD mutations in consecutive patients from a population-based study of acute TIA or ischaemic stroke (Oxford Vascular Study). Analysis included amplifying of the α-galactosidase A gene by polymerase chain reaction, denaturing high-performance liquid chromatography (dHPLC) analysis and sequencing using standard automated sequencing protocols [Mutation Surveyor software (Softgenetics)] where the dHPLC indicated a possible mutation. RESULTS: Samples of 1046 consecutive patients (52% women; mean age 73.2 years; 15% age |60 years; 572 stroke; 474 TIA) were tested. No patient had a known
The European Medicines Agency (EMA) has recommended granting a marketing authorisation in the European Union (EU) for migalastat (Galafold) for the treatment of Fabry disease, a rare genetic disorder. Patients with Fabry disease do not have enough of an enzyme called alpha-galactosidase A.
We developed a mass spectrometric procedure to quantify sphingosine-1-phosphate (S1P) in biological materials. The use of newly synthesized (13)C5 C18-S1P and commercial C17-S1P as internal standards rendered very similar results with respect to linearity, limit of detection and limit of quantitation. Caution is warranted with determination of plasma S1P levels. Earlier it was reported that S1P is elevated in plasma of Fabry disease patients. We investigated this with the improved quantification. No clear conclusion could be drawn for patient plasma samples given the lack of uniformity of blood collection and plasma preparation. To still obtain insight, plasma and tissues were identically collected from α-galactosidase A deficient Fabry mice and matched control animals. No significant difference was observed in plasma S1P levels. A significant 2.3 fold increase was observed in kidney of Fabry mice, but not in liver and heart. Comparative analysis of S1P in cultured fibroblasts from normal ...
RnRMarketResearch.com offers "Fabry Disease - Pipeline Review, H1 2015"global research report on its store.. This report provides comprehensive information on the therapeutic development for Fabry Disease, complete with comparative analysis at various stages, therapeutics assessment by drug target, mechanism of action (MoA), route of administration (RoA) and molecule type, along with latest updates, and featured news and press releases. It also reviews key players involved in the therapeutic development for Fabry Disease and special features on late-stage and discontinued projects.. Global Markets Directs report features investigational drugs from across globe covering over 20 therapy areas and nearly 3,000 indications. The report is built using data and information sourced from Global Markets Directs proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put ...
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017 ...
Results Of 67 studies, 63 that screened 51363patients (33943M and 17420F) and provided GLA mutations were reanalysed for disease-causing mutations. Of reported GLA mutations, benign variants occurred in 47.9% of males and 74.1% of females. The following were the revised prevalence estimates: among 36820 (23954M and 12866F) haemodialysis screenees, 0.21% males and 0.15% females; among 3074 (2031M and 1043F) renal transplant screenees, 0.25% males and no females; among 5491 (4054M and 1437F) cardiac screenees, 0.94% males and 0.90% females; and among 5978 (3904M and 2074F) stroke screenees, 0.13% males and 0.14% females. Among male and female screenees with pathogenic mutations, the type 1 Classic phenotype was predominant (~60%), except more male cardiac patients (75%) had type 2 Later-Onset phenotype. ...
Fabry disease is an X-linked recessive disorder that leads to the accumulation of a lipid called globotriaosylceramide in the cells of the body. The condition is rare and affects around 1 in 50,000 males. As an X-linked condition, Fabry disease mainly affects males, although females can also be affected.
目的报告2个Fabry家系的GLA基因突变特点.方法 2个经临床和病理检查证实的Fabry家系,家系1中连续3代有12人发病,均表现为发作性肢体疼痛;家系2中连续5代有8人发病,多数患者在经末期出现显著的多器官损害表现.对2个家系中的先证者和部分亲属进行PCR扩增其GLA基因的所有7个外显子包括侧翼序列,对PCR产物直接测序.结果先证者1的GLA基因第1外显子G132T(TGG→TGT)突变,造成W44C替换;先证者2的第6外显子G874C(GCT→CCT),造成A292P替换.两个先证者的母亲都有同其儿子一样的突变,且均为杂合性.结论经文献检索,两个Fabry家系各存在一个新的GLA基因点突变.同一基因的不同位点的突变导致的临床表现存在很大的差异. 由于女性患者和男性一样出现症状,推测这可能是等位基因随机失活导致的显性遗传表现. Objective To search mutations in GLA gene in two Chinese families with classic Fabry disease. Methods Two ...
Response:. We thank Drs Lidove, Joly, and Touzé1 for their interest in our publications with regard to screening for Fabry disease in stroke patients, and for their analysis of currently available epidemiological data.2,-,6. Several issues, however, preclude drawing solid conclusions from their meta-analysis. First, relevant heterogeneity in the study designs exists, especially with regard to the stroke subtype, the stroke etiology, and the demographic data, and even the screening methodology should be taken into account.2,4,5 Second, limiting screening for Fabry disease to cryptogenic stroke patients may result in selection bias because the condition is known to be associated with cerebral microangiopathy and macroangiopathy,7,8 cardioembolic phenomena,9 and coagulopathy.10 Finally, exclusion of patients with the D313Y mutation is debatable because this mutation has been identified in classically affected males.11. Obviously, additional data are mandatory to substantiate decision-making about ...
In reference to my post on soaking legumes and reducing oligosaccharides, a reader asked me if there has been any research on the efficacy of Solgars Vegetarian Digestive Aid.. In my research on soaking beans and reducing oligosaccharides, I didnt come across any study using a battery of digestive enzymes such as what is contained in Solgars preparation. Solgars Vegetarian Digestive Aid does not contain the digestive enzyme considered most effective at reducing flatulence from beans, alpha-galactosidase. Bean-zyme, a vegan version of Beano, contains alpha-galactosidase, as does Devas Vegan Digestive Support.. In their article, Effective Management of Flatulence, American Family Physician provides a chart comparing the effectiveness of various methods. They rank a couple of probiotic preparations as being highly effective, and slightly more effective than a large dose of alpha-galactosidase (they cite reference 1 below). The large dose, 1200 GaIU, would be the equivalent of 8 Bean-zyme ...
We identified one individual with the GLA variant Asp313Tyr, which alters the charge of the encoded amino acid and is not observed in normal chromosomes. The Asp313Tyr missense mutation was previously reported to be responsible for classic Fabry disease in affected members of a German family.18 Furthermore, the Asp313Tyr mutation was identified in a subject with cardiac Fabry disease in an HCM-referral cohort, who also had low enzymatic activity of α-galactosidase A.19 Thus, we suggest that the Asp313Tyr variant in GLA was most likely the cause of increased LVWT in our subject. We speculate that the Asp313Tyr missense mutation can produce different Fabry phenotypes-systemic classic Fabry manifestations, isolated cardiomyopathy, and mild LVH. Previous studies have demonstrated that patients with Fabry within the same family, who share the identical mutation, can exhibit a significant degree of variability in the phenotypic expression of the disease.20 Two other first-degree relatives of our ...
Fabry disease, the only X-linked sphingolipidosis, is associated with severe multiorgan dysfunction. Its incidence has been estimated from 1 in 40,000 to 60,000 live births for males. Heterozygous females can be symptomatic. Although clinical onset often occurs in childhood, disease presentation may be subtle, leading to delayed diagnosis or misdiagnosis. The primary defect is a deficiency of the lysosomal enzyme, alpha-galactosidase A which releases galactose from ceramide trihexoside (globotriaosylceramide, Gb3) and related glycosphingolipids (especially galabiosylceramide, Gb2), due to mutations in the GLA gene. This results in progressive accumulation of Gb3 in vascular endothelial cells, epithelial and smooth muscle cells, leading to ischemia and infarction especially in the kidney, heart and brain. Large amounts of Gb3 are excreted by untreated male hemizygotes (except patients with a renal graft and those with a cardiac variant), and smaller but still significant amounts by heterozygote ...
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References:. [1] A single .25 mg tablet of pyrimethamine is currently retailed in the Netherlands for .41 Euros (Medicijnkosten), in Australia for .49 AUD (PBS) and in New Zealand for .739 NZD (PHARMAC). The BBC reports a price of .433 GBP in the UK.. [2] See Email from Kathy Hudson (NIH/OD) to Francis Collins (NIH/OD), August 5, 2011, subject: Subject: Fabrys - it is time to act. Reported, FDA enforcement discretion to allow unregistered generic Daraprim to be imported and sold at lower prices, October 8, 2015, http://www.keionline.org/node/2332. The FDA instead encouraged and authorized Shire to import Replagal for use in "single-patient INDs," and gave Shire a Fast Track designation for a BLA. "In response to the shortage of Fabrazyme, FDA has been in discussion with Shire regarding possible options that would allow Fabry patients in the U.S. access to Replagal. At this time, individual Fabry patients may access treatment with Replagal under emergency or single-patient INDs based on clinical ...
Press Release issued Jan 3, 2014: Reportstack, provider of premium market research reports announces the addition of Fabry Disease Global Clinical Trials Review, H2, 2013 market report to its offering Fabry Disease Global Clinical Trials Review, H2, 2013
Press Release issued May 28, 2014: Reportstack, provider of premium market research reports announces the addition of Fabry Disease - Pipeline Review, H1 2014 market report to its offering Fabry Disease - Pipeline Review, H1 2014
Six patients with the rare genetic disorder Fabry disease have filed a lawsuit against Cambridge, MA-based biotech company Genzyme (NASDAQ:]) and Mt. Sinai
Free Online Library: Fabry Nephropathy.(Report) by Archives of Pathology & Laboratory Medicine; Health, general Enzymes Development and progression Research Fabrys disease Care and treatment Diagnosis Gene mutation Gene mutations
Cerebral micro- and macroangiopathies are hallmarks of Fabry disease.17,20 It is hypothesized that lipid deposits in vascular endothelial and smooth muscle cells cause oxidative stress, vascular dysfunction, vessel occlusion, and tissue ischemia.21 These pathophysiological mechanisms are associated with an increased risk of premature stroke, progressive white matter lesions, and dolichoectasia as major clinical and neuroimaging correlates.17 Recent literature data indicate that stroke frequently occurs before the diagnosis of Fabry disease has been made and in the absence of other key signs of this disease.22. In contrast to the considerable number of studies on the presence of Fabry disease in patients with renal or cardiac disorders,4-11 only 2 studies reported on the prevalence of Fabry disease with neurologic hallmarks for this condition.13,16 Both studies focused on young patients with cryptogenic stroke. In a large cohort of 721 patients diagnosed with cryptogenic stroke, the prevalence of ...
Idorsia has exclusive option to worldwide rights to ReveraGens Vamorolone.. In 2017, several Phase 2 studies were concluded and the company engaged with regulatory authorities to further advance these compounds. In the course of 2018, Idorsia aims to move four of these projects into Phase 3 clinical development.. Lucerastat for Fabry disease. In an exploratory study in patients with Fabry disease, treatment with lucerastat in addition to ERT demonstrated a marked decrease in plasma levels of metabolic substrates associated with the disease. The study also demonstrated that lucerastat is well tolerated in patients with Fabry disease.. In the first half of 2018, Idorsia expects to initiate a pivotal Phase 3 study designed to assess the effects of lucerastat on neuropathic pain and gastrointestinal symptoms, as well as safety and tolerability, in patients with Fabry disease. The study is expected to enroll around 100 patients and to last approximately 20 months.. Lucerastat for Fabry disease has ...
The European Commission granted a marketing authorisation valid throughout the European Union for Galafold on 26 May 2016. It is a medicine used to treat patients aged 16 years or over with Fabry disease.
Alpha-galactosidase is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It is encoded by the GLA ge
White matter lesions (WML) are clinically relevant since they are associated with strokes, cognitive decline, depression, or epilepsy, but the underlying etiology in young adults without classical risk factors still remains elusive. Our aim was to elucidate the possible clinical diagnosis and mechanisms leading to WML in patients carrying the D313Y mutation in the α-galactosidase A (GLA) gene, a mutation that was formerly described as nonpathogenic. Pathogenic GLA mutations cause Fabry disease, a vascular endothelial glycosphingolipid storage disease typically presenting with a symptom complex of renal, cardiac, and cerebrovascular manifestations. We performed in-depths clinical, biochemical and genetic examinations as well as advanced magnetic resonance imaging analyses in a pedigree with the genetically determined GLA mutation D313Y. We detected exclusive neurologic manifestations of the central nervous system of the “pseudo†-deficient D313Y mutation leading to manifest WML in 7 ...
Studies are reported on Alpha-Galactosidase and Conversion of Group B Erythrocytes and (2) Isolation and Characterization of Alpha-N-Acetylgalactosaminidase.*Enzymes
Meet Jerry Walter, Founder and President of the National Fabry Disease Foundation. Jerry is also a retired U.S. Army Colonel. He has been an active and committed leader of one of the 2 US Fabry patient organizations, dedicating his energy, skills an... Read more... ...
Twin boys with Fabrys disease and 6 affected relatives were described. Limb pains and retinal vessel tortuosity were present but no patient had angiokeratomata. One boy had a severe enteropathy with small and large bowel involvement which was investigated. Thin-layer chromatography showed that excesses of ceramide di- and trihexosides were excreted in the urine. Leucocyte α-galactosidase activity was measured: hemizygous males showed very low activity, while obligate and probable heterozygous females had values intermediate between those of the patients and the normal controls.. ...
Alpha galactosidase A Antibody 66121-1-Ig has been identified with IF, IHC, WB, ELISA. 66121-1-Ig detected 49 kDa band in HeLa cells with 1:500-1:2000 dilution...
Alpha galactosidase A Antibody 19877-1-AP has been identified with IF, WB, ELISA. 19877-1-AP detected 49 kDa band in HEK-293 cells with 1:500-1:3000 dilution...
Buy Food Grade Powder Almost White Alpha Galactosidase Enzyme 4000u/g Szym-AGS4FO direct from Enzyme Feed Additive of China Factory that provide Latest Enzyme Feed Additive - nutritionalfeedadditives.
... It is an uncommon X-linked recessive trait that involves lysosomal storage disease that causes varied
Is there anyone out there with Fabry disease along with ESKD? My husband is the one suffering from these terrible diseases. We found out six years ago only
Canadians with the gene disorder Fabry disease -- many of whom have no access to drug therapy -- will now be able to obtain two staggeringly expensive medications under a new government deal.
Learn more about Fabry Disease at Regional Medical Center Bayonet Point DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Learn more about Fabry Disease at Grand Strand Medical Center DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Learn more about Fabry Disease at Grand Strand Medical Center DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Acute Market Reportss, Fabry Disease - Pipeline Review, H2 2015, provides an overview of the Fabry Diseases therapeutic pipeline. This report provides
Learn more about Fabry Disease at TriStar Centennial Parthenon Pavilion DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Learn more about Fabry Disease at Memorial Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
The most common and first ocular sign of Fabrys disease: bilateral corneal diffuse yellow epithelial haziness that gradually becomes concentrated into dense rays that radiate from the center of the cornea into dense bronze to cream-colored streaks arranged in a vortex or star-shaped pattern (whorl-like or verticillata).8,9 These opacities appear to be in the subepithelial or Bowmans layer of the cornea.8 Corneal involvement occurs in over 90% of these patients ...
The aim of this thesis has been to characterise nanoparticles (NPs) to which tyrosine hydroxylase (TH) was attached, as a preliminary step in their evaluation to be used for an enzyme replacement therapy (ERT) for Parkinsons disease (PD). TH is the enzyme catalysing the rate-limiting step in the synthesis of catecholamines, an important group of neurotransmitters. It converts dietary L- tyrosine to L-3,4-dihydroxyphenylalanine (L- DOPA). Levels of dopamine, one of the catecholamines, are low in the brain of patients with PD. Typical treatment is the supply of L- DOPA, at least short-term it improves the patients quality of life, but also gives side effects and motor impairment after many years of use. A transport of TH to the brain is expected to naturally increase the amount of L-DOPA and dopamine if L-tyrosine and the cofactor tetrahydrobiopterin are present. This was the envisioned ERT in this project. The NPs were selected based on their ability to absorb large amounts of protein, to cross ...
Am. J. Hum. Genet., 81:1042-1049, 2007. In this puplication, investigators from Duke University administered an AAV encoding alpha-glucosidase(GAA) to GAA-knockout mice. This prevented the antibody response to subsequently administered enzyme replacement therapy.. Â Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).. Click this link to see the most recent online abstracts of major genetics journals ...
Having Gaucher disease, I receive enzyme replacement therapy in the form of infusions twice a month. Yesterday morning the smiling delightful nurse arrived, promptly as always, and I was hooked up to the i.v. line. I have a stand on wheels, so am able to move around, but a little limited as too much movement alters the speed of the drip. Several months ago, whilst having my treatment, my next door neighbour, who has become a close friend over the years, knocked on the door and asked me in for coffee. I stood in the doorway with stand in tow, and she didnt bat an eyelid, so I followed her in, wheeling my stand alongside I had morning coffee at her house. The medication takes an hour and a half, but the time went by very quickly, having chatted nonstop discussing everything from baking, the new headmistress at the school, local elections, pros and cons of using real butter as opposed to margarine, and of course no worthwhile discussion would be complete without a short debate on world peace! We ...
Intracellular enzyme replacement therapy (i-ERT) helps deliver normal copies of the mRNA inside the liver cell, reinstating the normal physiology and correcting the disease.
Enzymedica VeggieGest Formerly Gastro 90 Capsules Occasional gas and bloating often result from fermentation of food, like plant fiber, in the colon. VeggieGest contains a high-potency enzyme, Alpha Galactosidase, that is key in digesting the sugars from beans, grains, raw vegetables and other foods that create digestive discomfort.* VeggieGest may assist the body in breaking down and assimilating these foods, which takes stress off the gallbladder, liver and pancreas.* Recommended Use: 1 capsule with each meal. More may be taken as needed. Thera-blend is an exclusive process that combines multiple strains of enzymes that work in various pH levels. Thera-blend enzymes have been shown to be three times stronger and work more than six times faster than leading digestive supplements. Supplement Facts Serving Size: 1 Capsule Servings per Container: 90 Amount Per Serving % Daily Value Amylase Thera-blend 22000 DU * Alpha-Galactosidase 1000 GalU * Glucoamylase 30 AGU * Cellulase
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Research and Markets (http://www.researchandmarkets.com/research/xs3qs6/fabry_disease) has announced the addition of the Fabry Disease Pipeline
Unlike other gas and bloating medicines, Beano contains a natural digestive enzyme that can help prevent gas from beans before it starts.
... is a comprehensive digestive enzyme formula containing all the necessary digestive enzymes including dipeptidyl peptidase IV (DPP-IV), lactase and alpha-galactosidase that assist in the proper digestion of proteins, fats, starch, dairy, and glut
Fabry disease is an inherited disorder. It follows an X-linked pattern of inheritance because the gene that makes alpha-Gal A is on the X chromosome. A chromosome is a package of genetic material, and humans have 23 pairs of chromosomes, which they inherit from their parents. The X-chromosome is one of the two chromosomes (X and Y) that determine an individuals sex. Males have one Y chromosome and one X-chromosome; for males with Fabry disease, the X-chromosome carries the defective a-Gal A gene. Females have two X chromosomes; for females with Fabry disease, one X-chromosome carries the defective a-Gal A gene and the other carries a normal, healthy a-Gal A gene. A male with Fabry disease will pass his X-chromosome with the defective alpha-Gal A gene onto each of his daughters, but to none of his sons. A female with Fabry disease has a 50% chance of passing the X-chromosome with the defective alpha-Gal A gene onto each of her children, both sons and daughters.. For more information, see: ...
In the past, the management of several inherited metabolic diseases was limited to support therapy of individual symptoms. The past decade has witnessed extraordinary innovation in the treatment of several inherited metabolic diseases with different approaches now available in pre-clinical and clinical testing, including enzyme replacement therapy (ERT), substrate reduction and haematopoietic stem cells transplantation [1]. More innovative strategies, such as pharmacological chaperone therapy and gene therapy, are under investigation for selected inherited metabolic diseases [135-137].. The effect of therapeutic interventions on the respiratory manifestations of specific inherited metabolic disease has been documented by several studies. A therapeutic role of BAL aimed at reducing the accumulation of abnormal metabolites within airways has been hypothesised in some inherited metabolic diseases, although its effectiveness is still under debate. In a patient with Niemann-Pick type C disease with ...
Fabry disease (FD) is an X-linked lysosomal storage disease and is the result of mutation in the α-Galactosidase A gene; such mutations cause a deficiency in α-Galactosidase A enzyme and an accumulation of glycosphingolipid in tissue. Affected males with classic FD have little or no enzyme activity and have an early onset of symptoms and signs, including acroparesthesias, hypohidrosis, angiokeratomas, gastrointestinal dysfunction and/or a characteristic corneal dystrophy during childhood/adolescence. Males with late-onset FD who have residual enzyme activity develop progressive multi-systemic involvement that leads to renal failure and hypertrophic cardiomyopathy, as well as cerebrovascular disease; these events mostly occur during the fourth to seventh decades of life. Read More ...
Amicus Therapeutics is New Jersey-based biotechnology company dealing with coming up with therapies to treat rare or orphan diseases. The company uses a unique combination of technologies and medications to ensure people living with rare and devastating diseases are cured. Such conditions include Pompe disease, Lysosomal Storage Disorders Fabry, and Epidermolysis Bullosa (http://releasefact.com/2017/08/amicus-therapeutics-funds-its-ground-breaking-new-treatment/). To treat Fabry disease, Amicus Therapeutics has come up with migalastat HCI which is a small molecule that can be used as monotherapy together with enzyme replacement therapy (ERT) for useful results. They have again come up with SD-101, an effective medicine for treating Epidermolysis Bullosa, a rare connective tissues disorder.. To come up with ERT solutions for Pompe disease, Fabry disease, and potentially other lysosomal storage disorders (LSD, Amicus Therapeutics uses Chaperone-Advanced Replacement Therapy (CHART) technological ...
Kidney Int. 2002 Dec;62(6):1933-46. Clinical Trial; Clinical Trial, Phase III; Randomized Controlled Trial; Research Support, Non-U.S. Govt; Research Support, U.S. Govt, P.H.S.
Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main members of this group are Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay-Sachs disease and Metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.. ...
As this case report demonstrates, there is only a partial and transient beneficial effect of ERT and hyperbaric oxygen treatment combined with corticotherapy and pentoxifylline for hearing loss in patients with FD. As there is no international consensus on treatment of SHL [12] (particularly in patients with FD), the administered therapy is the standard therapy for SHL, and the results obtained in our case were at their best for the first treatment course, whereas partial regression of the symptoms occurred on the second occasion. Although SHL in patients with FD is rarely described, the symptoms are consistent with the vascular alterations caused by the disease in other areas. The incidence of SHL may be underestimated.. The mechanism of progressive SHL in patients with FD remains unclear. It has been suggested that globotriaosylceramide accumulation in vascular endothelium, decreased numbers of spiral ganglion cells [13], long-term obstruction of cranial vessels by dolicho-ectasic arteries ...

Angiokeratoma Corporis Diffusum Fabry Syndrome Publications and Abstracts | PubFacts.comAngiokeratoma Corporis Diffusum Fabry Syndrome Publications and Abstracts | PubFacts.com

... alpha galactosidase A (deficient in Fabry), acid alpha-glucosidase (deficient in Pompe) and galactosylceramidase (deficient in ... Alpha-galactosidase (αGal) is a lysosomal enzyme that hydrolyses the alphagalactosyl moiety from glycosphingo-lipids. Mutations ... Pathogenetic GLA variants cause alpha-galactosidase A (α-Gal A) enzyme deficiency leading to the X-linked lysosomal storage ... Background: Fabry disease (FD [MIM: 301500]) is a disorder caused by mutations in the alpha-galactosidase gene (GLA), which ...
more infohttps://www.pubfacts.com/search/Angiokeratoma+Corporis+Diffusum+Fabry+Syndrome

Childrens Hospital of Iowa to test new treatment for Fabry disease - University News Service - The University of IowaChildren's Hospital of Iowa to test new treatment for Fabry disease - University News Service - The University of Iowa

The goal of the trial is to determine the safety and efficacy of recombinant human alpha-galactosidase A (Fabrazyme) on the ...
more infohttp://www.news-releases.uiowa.edu/2002/december/1204fabry-disease.html

Fabry Disease - Mount Sinai Doctors Faculty PracticeFabry Disease - Mount Sinai Doctors Faculty Practice

Fabry disease is a genetic condition that results in reduced activity of an enzyme in the body called alpha-galactosidase A ( ... alpha-Gal A). The purpose of alpha-Gal A is to break down a certain lipid, or fatty substance, called globotriaosylceramide (GL ... It follows an X-linked pattern of inheritance because the gene that makes alpha-Gal A is on the X chromosome. A chromosome is a ... A female with Fabry disease has a 50% chance of passing the X-chromosome with the defective alpha-Gal A gene onto each of her ...
more infohttp://www.mountsinaifpa.org/patient-care/practices/genetics/programs-and-services/pilot-newborn-screening-program/diseases/fabry-disease

Central nervous system involvement in anderson-fabry diease: A clinical and MRI retrospective study | IRIS Università di PisaCentral nervous system involvement in anderson-fabry diease: A clinical and MRI retrospective study | IRIS Università di Pisa

BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase ...
more infohttps://arpi.unipi.it/handle/11568/118610

Alpha-galactosidase deficiency - GanfydAlpha-galactosidase deficiency - Ganfyd

Wikipedia on Alpha-galactosidase deficiency (Less technical, ? quality control). UpToDate® on Alpha-galactosidase deficiency ( ... Alpha-galactosidase deficiency (Fabry disease, Fabry syndrome, Anderson-Fabry syndrome) is caused by gene variations that ... Nice Guidance on Alpha-galactosidase deficiency. Centre for Reviews and Dissemination databases -DARE & NHS EED (evaluates ... Agalsidase alpha (may not be as effective from switch studies[3]) *Pharmacological chaperones may help with specific mutations ...
more infohttp://www.ganfyd.org/index.php?title=Alpha-galactosidase_deficiency

alpha-galactosidase - Alpha-galactosidase - Umbelopsis vinacea - alpha-galactosidase gene & proteinalpha-galactosidase - Alpha-galactosidase - Umbelopsis vinacea - alpha-galactosidase gene & protein

tr,Q02402,Q02402_9FUNG Alpha-galactosidase OS=Umbelopsis vinacea OX=44442 GN=alpha-galactosidase PE=2 SV=1 ... Name:alpha-galactosidaseImported. ,p>Information which has been imported from another database using automatic procedures.,/p ... Hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, ...
more infohttps://www.uniprot.org/uniprot/Q02402

Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A | PNASFabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A | PNAS

... alpha-galactosidase A (alpha-Gal A; alpha-D-galactoside galactohydrolase, EC 3.2.1.22). To investigate the structure, ... Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A. D H Calhoun, D F Bishop, H S Bernstein, M Quinn ... Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A ... Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A ...
more infohttps://www.pnas.org/content/82/21/7364

Alpha-galactosidase - WikipediaAlpha-galactosidase - Wikipedia

Beta-galactosidase Migalastat, a drug targeting alpha-galactosidase Classification of α-galactosidases (according to CAZy) ... Dean KJ, Sweeley CC (1979). "Studies on human liver alpha-galactosidases. I. Purification of alpha-galactosidase A and its ... Alpha-galactosidase is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and ... Two recombinant forms of alpha-galactosidase are called agalsidase alpha (INN) and agalsidase beta (INN). This enzyme is a ...
more infohttps://en.wikipedia.org/wiki/Alpha-galactosidase

Catalytic Mechanism of Human alpha-Galactosidase | UBC ChemistryCatalytic Mechanism of Human alpha-Galactosidase | UBC Chemistry

The enzyme alpha-galactosidase (alpha-GAL, also known as alpha-GAL A; E.C. 3.2.1.22) is responsible for the breakdown of alpha- ... a lysosomal storage disorder characterized by the buildup of alpha-galactosylated substrates in the tissues. alpha-GAL is an ... The high resolution structures of each step in the catalytic cycle will allow for improved drug design efforts on alpha-GAL and ... Defects in human alpha-GAL lead to the development of Fabry disease, ...
more infohttp://www.chem.ubc.ca/catalytic-mechanism-human-alpha-galactosidase

Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.  - PubMed - NCBIAnalysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease. - PubMed - NCBI

Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.. Lai LW1, Whitehair O, Wu MJ, OMeara M, ... Fabry disease is an X-linked disease caused by a defective lysosomal enzyme, alpha-galactosidase A, and characterized by skin ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/12786754

Capsular-polysaccharide endo-1,3-alpha-galactosidase - WikipediaCapsular-polysaccharide endo-1,3-alpha-galactosidase - Wikipedia

Capsular-polysaccharide endo-1,3-alpha-galactosidase at the US National Library of Medicine Medical Subject Headings (MeSH) ... Capsular-polysaccharide endo-1,3-alpha-galactosidase (EC 3.2.1.87, polysaccharide depolymerase, capsular polysaccharide ... alpha-D-galactosidic linkages in Aerobacter aerogenes capsular polysaccharide Hydrolyses the galactosyl-alpha-1,3-D-galactose ...
more infohttps://en.wikipedia.org/wiki/Capsular-polysaccharide_endo-1,3-alpha-galactosidase

Reduction of non-digestible oligosaccharides in soymilk: application of engineered lactic acid bacteria that produce alpha...Reduction of non-digestible oligosaccharides in soymilk: application of engineered lactic acid bacteria that produce alpha...

Most mammals, including man, lack pancreatic alpha-galactosidase (alpha-Gal), which is necessary for the hydrolysis of these ... application of engineered lactic acid bacteria that produce alpha-galactosidase.. LeBlanc JG1, Silvestroni A, Connes C, ... The alpha-Gal-producing strains are being evaluated for their efficiency in degrading raffinose and stachyose: i) in soymilk ... The alpha-Gal structural genes from Lactobacillus plantarum ATCC8014 (previously characterized in our laboratory) and from guar ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/15614733?dopt=Abstract

Alpha-galactosidase elisa and antibodyAlpha-galactosidase elisa and antibody

Recombinant Protein and Alpha-galactosidase Antibody at MyBioSource. Custom ELISA Kit, Recombinant Protein and Antibody are ... Alpha-galactosidase A. Alpha-galactosidase A ELISA Kit. Alpha-galactosidase A Recombinant. Alpha-galactosidase A Antibody. Also ... Alpha-galactosidase C. Alpha-galactosidase C ELISA Kit. Alpha-galactosidase C Recombinant. Alpha-galactosidase C Antibody. Also ... Alpha-galactosidase D. Alpha-galactosidase D ELISA Kit. Alpha-galactosidase D Recombinant. Alpha-galactosidase D Antibody. Also ...
more infohttps://www.mybiosource.com/protein_family.php?root=alpha-galactosidase

Alpha galactosidase A Antibody 19877-1-AP  | ProteintechAlpha galactosidase A Antibody 19877-1-AP | Proteintech

Alpha galactosidase A Antibody 19877-1-AP has been identified with IF, WB, ELISA. 19877-1-AP detected 49 kDa band in HEK-293 ... Agalsidas and Alpha-galactosidase A, Belongs to the glycosyl hydrolase 27 family. It hydrolysis of terminal, non-reducing alpha ... Alpha galactosidase A Antibody 0 Publications. Rabbit Polyclonal, Catalog number: 19877-1-AP ... HEK-293 cells were subjected to SDS PAGE followed by western blot with 19877-1-AP(Alpha galactosidase A antibody) at dilution ...
more infohttps://www.ptglab.com/products/GLA-Antibody-19877-1-AP.htm

Alpha galactosidase A Antibody 66121-1-Ig  | ProteintechAlpha galactosidase A Antibody 66121-1-Ig | Proteintech

Alpha galactosidase A Antibody 66121-1-Ig has been identified with IF, IHC, WB, ELISA. 66121-1-Ig detected 49 kDa band in HeLa ... Agalsidase and Alpha-galactosidase A, belongs to the glycosyl hydrolase 27 family. It hydrolyzes terminal, non-reducing alpha-D ... Alpha galactosidase A Antibody 0 Publications. Mouse Monoclonal, Catalog number: 66121-1-Ig ,CloneNo.: 2B2C5 Featured Product ... HeLa cells were subjected to SDS PAGE followed by western blot with 66121-1-Ig(Alpha galactosidase A antibody) at dilution of 1 ...
more infohttps://www.ptglab.com/products/GLA-Antibody-66121-1-Ig.htm

RCSB PDB 









- 4FNS: Crystal structure of GH36 alpha-galactosidase AgaA A355E from Geobacillus stearothermophilus in...RCSB PDB - 4FNS: Crystal structure of GH36 alpha-galactosidase AgaA A355E from Geobacillus stearothermophilus in...

The molecular mechanism of the thermostable alpha-galactosidases AgaA and AgaB explained by X-ray crystallography and ... Crystal structure of GH36 alpha-galactosidase AgaA A355E from Geobacillus stearothermophilus in complex with 1- ...
more infohttp://www.rcsb.org/pdb/explore/materialsAndMethods.do?structureId=4FNS

Conditions of formation, purification, and characterization of an alpha-galactosidase of Trichoderma reesei RUT C-30. | Applied...Conditions of formation, purification, and characterization of an alpha-galactosidase of Trichoderma reesei RUT C-30. | Applied...

The addition of 50 mM glucose did not affect the induction of alpha-galactosidase formation by galactose. alpha-Galactosidase ... Conditions of formation, purification, and characterization of an alpha-galactosidase of Trichoderma reesei RUT C-30.. S ... Trichoderma reesei RUT C-30 formed an extracellular alpha-galactosidase when it was grown in a batch culture containing lactose ... Conditions of formation, purification, and characterization of an alpha-galactosidase of Trichoderma reesei RUT C-30. ...
more infohttps://aem.asm.org/content/59/5/1347

Alpha-Galactosidase A (Alpha-D-Galactosidase A or Alpha-D-Galactoside Galactohydrolase or Melibiase or EC 3.2.1.22) - Pipeline...Alpha-Galactosidase A (Alpha-D-Galactosidase A or Alpha-D-Galactoside Galactohydrolase or Melibiase or EC 3.2.1.22) - Pipeline...

H1 2016 Alpha-Galactosidase A (Alpha-D-Galactosidase A or Alpha-D-Galactoside Galactohydrolase or - Market research report and ... Alpha-D-Galactosidase A or Alpha-D-Galactoside Galactohydrolase or Melibiase or EC 3.2.1.22) - Pipeline Review, ... Alpha-Galactosidase A (Alpha-D-Galactosidase A or Alpha-D-Galactoside Galactohydrolase or Melibiase or EC 3.2.1.22) - Pipeline ... Alpha-Galactosidase A (Alpha-D-Galactosidase A or Alpha-D-Galactoside Galactohydrolase or Melibiase or EC 3.2.1.22) Overview ...
more infohttps://www.marketresearch.com/Global-Markets-Direct-v3480/Alpha-Galactosidase-Galactoside-Galactohydrolase-Melibiase-10117700/

Alpha-D-Galactosidase Dosage Guide with Precautions - Drugs.comAlpha-D-Galactosidase Dosage Guide with Precautions - Drugs.com

Detailed Alpha-D-Galactosidase dosage information for adults. Includes dosages for Flatulence; plus renal, liver and dialysis ... Alpha-D-galactosidase oral drops:. Take 5 drops/problem food right before your first bite. A typical meal has 3 servings of ... Alpha-D-galactosidase oral tablet/capsule, chewable:. Chew or swallow whole 1 tablet/capsule per problem food right before your ...
more infohttps://www.drugs.com/dosage/alpha-d-galactosidase.html

Cleaning Compositions Comprising Alpha-Galactosidase - Patent applicationCleaning Compositions Comprising Alpha-Galactosidase - Patent application

5, NSP-6 (alpha-galactosidase 1), NSP-8 (alpha-galactosidase 2), and NSP-9 (alpha-galactosidase 3), showed excellent cleaning ... 0055]The terms "α-galactosidase" and alpha-galactosidase refer to an enzyme that hydrolyses terminal, non-reducing alpha-D- ... 0054]As used herein, "effective amount of alpha-galactosidase" refers to the quantity of alpha-galactosidase enzyme necessary ... 9 shows that all three alpha-galactosidases and especially alpha-galactosidase 2 (NSP-8) showed significant cleaning in the ...
more infohttp://www.patentsencyclopedia.com/app/20100137184

alpha-Galactosidase Aspergillus niger Powder Enzyme - Megazymealpha-Galactosidase Aspergillus niger Powder Enzyme - Megazyme

Purchase high purity enzyme alpha-Galactosidase (Aspergillus niger) powder for use in research, biochemical enzyme assays and ... alpha-galactosidase; alpha-D-galactoside galactohydrolase. Highly purified. From Aspergillus niger.. Supplied as a freeze-dried ... High purity α-Galactosidase (Aspergillus niger) for use in research, biochemical enzyme assays and in vitro diagnostic analysis ... The other α-galactosidases had MWs of about 35 000 and could be separated from β-mannanase by dissection, ion exchange ...
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Enzyme & Probiotic - Alpha-Galactosidase Manufacturer from DelhiEnzyme & Probiotic - Alpha-Galactosidase Manufacturer from Delhi

Alpha-Galactosidase, Dextranase, Alpha-amylase and Bromelain offered by Alpspure Lifesciences Private Limited, Delhi ... Two recombinant forms of alpha-galactosidase are called agalsidase alpha (INN) and agalsidase beta (INN).Alpha-galactosidase is ... Alpha-galactosidase is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and ... Pioneers in the industry, we offer alpha-galactosidase, dextranase, alpha-amylase, bromelain, serratiopeptidase powder and ...
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Fabry Disease (Anderson-Fabry Disease, Alpha-Galactosidase A Deficiency, Angiokeratoma Corporis Diffusum, Ceramide...Fabry Disease (Anderson-Fabry Disease, Alpha-Galactosidase A Deficiency, Angiokeratoma Corporis Diffusum, Ceramide...

Fabry disease is caused by mutations in the gene encoding the lysosomal hydrolase, α-Gal A. The galactosidase, alpha (GLA) gene ... Eng, CM, Guffon, N, Wilcox, WR, Germain, DP, Lee, P, Waldek, S. "Safety and efficacy of recombinant human alpha-galactosidase A ... Fabry Disease (Anderson-Fabry Disease, Alpha-Galactosidase A Deficiency, Angiokeratoma Corporis Diffusum, Ceramide ... Fabry Disease (Anderson-Fabry Disease, Alpha-Galactosidase A Deficiency, Angiokeratoma Corporis Diffusum, Ceramide ...
more infohttps://www.endocrinologyadvisor.com/dermatology/fabry-disease-anderson-fabry-disease-alpha-galactosidase-a-deficiency-angiokeratoma-corporis-diffusum-ceramide-trihexosidase-deficiency-fabrys-disease-gla-deficiency-hereditary-dystopic-lipidosis/article/595177/

Buy Recombinant Human Alpha-Galactosidase Protein (enz-926)Buy Recombinant Human Alpha-Galactosidase Protein (enz-926)

Buy online Recombinant Human Alpha-Galactosidase from Prospec cat# enz-926. ProteoGenix provides you the best Enzymes proteins. ...
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Fabry Genotypes & Phenotypes | Alpha Galactosidase A Sequencing | FabryFacts.comFabry Genotypes & Phenotypes | Alpha Galactosidase A Sequencing | FabryFacts.com

Read how alpha galactosidase a sequencing can help identify the mutation. Visit FabryFacts.com for more. ... Benefits of α-Galactosidase A (GLA) Gene Sequencing. GLA gene sequencing to understand more about a patients mutation or ... α-galactosidase A deficiency: Fabry disease. In: Valle D, ed. The Metabolic and Molecular Bases of Inherited Disease. New York ... Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan J-Q. Alternative splicing in the α-galactosidase a gene: increased exon ...
more infohttp://www.fabryfacts.com/genotypes-phenotypes/
  • E.C. 3.2.1.22) is responsible for the breakdown of alpha-galactosides in the lysosome. (ubc.ca)
  • The alpha-Gal structural genes from Lactobacillus plantarum ATCC8014 (previously characterized in our laboratory) and from guar have been cloned and expressed in Lactococcus lactis. (nih.gov)
  • Lucerne and guar contained two α-galactosidase activities, carob three and soybean four. (megazyme.com)
  • A composition or a kit comprising (i) a polypeptide comprising an amino acid sequence having at least 77 % identity to SEQ ID NO: 1, or a functional derivative thereof, and exhibiting alpha-galactosidase activity, and (ii) a divalent metal ion, preferably Mn2+, and/or the co-factor NAD+ or NADP+, preferably NAD+, and/or a reducing agent, preferably dithiothreitol. (lens.org)
  • A method of producing a fermentation product from an a-galactoside containing substrate comprising contacting the substrate with a polypeptide comprising an amino acid sequence having at least 77 % identity to SEQ ID NO: 1 and exhibiting alpha-galactosidase activity, or a functional fragment thereof, or a host cell expressing said polypeptide or a cell extract thereof. (lens.org)
  • Alpha-amylases are digestive enzymes which hydrolyze glycosidic bonds in starch to glucose, maltose, malt triose and dextrin. (alpspure.co.in)
  • The high resolution structures of each step in the catalytic cycle will allow for improved drug design efforts on alpha-GAL and other glycoside hydrolase family 27 enzymes by developing ligands that specifically target different states of the catalytic cycle. (ubc.ca)
  • The present invention relates to the use of novel alpha-galactosidases, in particular in food, feed and medical fields, paper industry and in biomass conversion technologies to produce biofuels or other compounds of interest. (lens.org)
  • Please make sure that your review focus on alpha galactosidase 2000u/g,5kg/bag,free shipping. (allcosmeticsource.com)