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Globotriaosylceramide
Globotriaosylceramide is a globoside. It is also known as CD77, Gb3, GL3, and ceramide trihexoside. It is one of the few clusters of differentiation that is not a protein. It is formed by the alpha linkage of galactose to lactosylceramide catalyzed by A4GALT. It is metabolized by alpha-galactosidase, which hydrolyzes the terminal alpha linkage. Clinical significance Defects in the enzyme alpha-galactosidase lead to the buildup of globotriaosylceramide, causing Fabry's disease. The pharmaceutical drug migalastat enhances the function of alpha-galactosidase and is used to treat Fabry's. Globotriaosylceramide is also one of the targets of Shiga toxin, which is responsible for pathogenicity of enterohemorrhagic ''Escherichia coli ''Escherichia coli'' (),Wells, J. C. (2000) Longman Pronunciation Dictionary. Harlow ngland Pearson Education Ltd. also known as ''E. coli'' (), is a Gram-negative, facultative anaerobic, rod-shaped, coliform bacterium of the genus '' Esc ...'' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Globotriaosylceramide
Globotriaosylceramide is a globoside. It is also known as CD77, Gb3, GL3, and ceramide trihexoside. It is one of the few clusters of differentiation that is not a protein. It is formed by the alpha linkage of galactose to lactosylceramide catalyzed by A4GALT. It is metabolized by alpha-galactosidase, which hydrolyzes the terminal alpha linkage. Clinical significance Defects in the enzyme alpha-galactosidase lead to the buildup of globotriaosylceramide, causing Fabry's disease. The pharmaceutical drug migalastat enhances the function of alpha-galactosidase and is used to treat Fabry's. Globotriaosylceramide is also one of the targets of Shiga toxin, which is responsible for pathogenicity of enterohemorrhagic ''Escherichia coli ''Escherichia coli'' (),Wells, J. C. (2000) Longman Pronunciation Dictionary. Harlow ngland Pearson Education Ltd. also known as ''E. coli'' (), is a Gram-negative, facultative anaerobic, rod-shaped, coliform bacterium of the genus '' Esc ...'' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha-galactosidase
α-Galactosidase ( EC 3.2.1.22, α-GAL, α-GAL A; systematic name α-D-galactoside galactohydrolase) is a glycoside hydrolase enzyme that catalyses the following reaction: : Hydrolysis of terminal, non-reducing α-D-galactose residues in α-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipids It catalyzes many catabolic processes, including cleavage of glycoproteins, glycolipids, and polysaccharides. The enzyme is encoded by the ''GLA'' gene. Two recombinant forms of human α-galactosidase are called agalsidase α (INN) and agalsidase β (INN). A mold-derived form is the primary ingredient in gas relief supplements. Function This enzyme is a homodimeric glycoprotein that hydrolyses the terminal α-galactosyl moieties from glycolipids and glycoproteins. It predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. Reaction mechanism Disease relevance Fabry disease ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Migalastat
Migalastat, sold under the brand name Galafold, is a medication for the treatment of Fabry disease, a rare genetic disorder. It was developed by Amicus Therapeutics. The US Food and Drug Administration (FDA) granted it orphan drug status in 2004, and the European Commission followed in 2006. The European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) granted the drug a marketing approval under the name Galafold in May 2016. The U.S. Food and Drug Administration (FDA) considers it to be a first-in-class medication. Medical uses Migalastat is used for the long-term treatment of Fabry disease in adults and adolescents aged 16 or older with an amenable mutation of the enzyme alpha-galactosidase A (α-GalA). An "amenable" mutation is one that leads to misfolding of the enzyme, but otherwise would not significantly impair its function. Based on an ''in vitro'' test, Amicus Therapeutics has published a list of 269 amenable and nearly 600 non-amenable mutation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Globoside
Globosides are a sub-class of the lipid class glycosphingolipid with three to nine sugar molecules as the side chain (or R group) of ceramide. The sugars are usually a combination of ''N''-acetylgalactosamine, D-glucose or D-galactose. One characteristic of globosides is that the "core" sugars consists of Glucose-Galactose-Galactose (Ceramide-βGlc4-1βGal4-1αGal), like in the case of the most basic globosidGb3 also known as pk-antigen. Another important characteristic of globosides is that they are neutral at pH 7, because they usually do not contain neuraminic acid, a sugar with an acidic carboxy-group. However, some globosides with the core structure Cer-Glc-Gal-Gal do contain neuraminic acid, e.g. the globo-series glycosphingolipid "SSEA-4-antigen" The side chain can be cleaved by galactosidases and glucosidases. The deficiency of α-galactosidase A causes Fabry's disease, an inherited metabolic disease characterized by the accumulation of the globoside globotriaosylce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cluster Of Differentiation
The cluster of differentiation (also known as cluster of designation or classification determinant and often abbreviated as CD) is a protocol used for the identification and investigation of cell surface molecules providing targets for immunophenotyping of cells. In terms of physiology, CD molecules can act in numerous ways, often acting as receptors or ligands important to the cell. A signal cascade is usually initiated, altering the behavior of the cell (see cell signaling). Some CD proteins do not play a role in cell signaling, but have other functions, such as cell adhesion. CD for humans is numbered up to 371 (). Nomenclature The CD nomenclature was proposed and established in the 1st International Workshop and Conference on Human Leukocyte Differentiation Antigens (HLDA), which was held in Paris in 1982. This system was intended for the classification of the many monoclonal antibodies (mAbs) generated by different laboratories around the world against epitopes on the su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactose
Galactose (, '' galacto-'' + ''-ose'', "milk sugar"), sometimes abbreviated Gal, is a monosaccharide sugar that is about as sweet as glucose, and about 65% as sweet as sucrose. It is an aldohexose and a C-4 epimer of glucose. A galactose molecule linked with a glucose molecule forms a lactose molecule. Galactan is a polymeric form of galactose found in hemicellulose, and forming the core of the galactans, a class of natural polymeric carbohydrates. D-Galactose is also known as brain sugar since it is a component of glycoproteins (oligosaccharide-protein compounds) found in nerve tissue. Etymology The word ''galactose'' was coined by Charles Weissman in the mid-19th century and is derived from Greek ''galaktos'' (of milk) and the generic chemical suffix for sugars ''-ose''. The etymology is comparable to that of the word ''lactose'' in that both contain roots meaning "milk sugar". Lactose is a disaccharide of galactose plus glucose. Structure and isomerism Galactose exists in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lactosylceramide
The Lactosylceramides, also known as LacCer, are a class of glycosphingolipids composed of a variable hydrophobic ceramide lipid and a hydrophilic sugar moiety. Lactosylceramides are found in microdomains on the plasma layers of numerous cells. Moreover, they are a type of ceramide including lactose, which is an example of a globoside. The chemical formula of Lactosylceramide is C42H79NO13, which has 806.088 g/mol of molar mass. Moreover, The IUPAC name of LacCer is N-(dodecanoyl)-1-beta-lactosyl-sphing-4-enine. Lactosylceramides were initially called 'cytolipin H'. It is found in small amounts just in most creature tissues, however, it has various huge organic capacities and it is of extraordinary significance as the biosynthetic forerunner of the greater part of the impartial oligoglycosylceramides, sulfatides and gangliosides. In creature tissues, biosynthesis of lactosylceramide includes expansion of the second monosaccharides unit (galactose) as its nucleotide subsidiary to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
A4GALT
Lactosylceramide 4-alpha-galactosyltransferase is an enzyme that in humans is encoded by the ''A4GALT'' gene. The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide Globotriaosylceramide is a globoside. It is also known as CD77, Gb3, GL3, and ceramide trihexoside. It is one of the few clusters of differentiation that is not a protein. It is formed by the alpha linkage of galactose to lactosylceramide catalyze ..., which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. References Further reading * * * * * * * * * * External links * * Human proteins {{gene-22-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fabry's Disease
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases. The genetic mutation that causes Fabry disease interferes with the function of an enzyme that processes biomolecules known as sphingolipids, leading to these substances building up in the walls of blood vessels and other organs. It is inherited in an X-linked manner. Fabry disease is sometimes diagnosed using a blood test that measures the activity of the affected enzyme called alpha-galactosidase, but genetic testing is also sometimes used, particularly in females. The treatment for Fabry disease varies depending on the organs affected by the condition, and the underlying cause can be addressed by replacing the enzyme that is lacking. The first descriptions of the condition were made simultaneously by dermatologist Johannes Fabry a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Shiga Toxin
Shiga toxins are a family of related toxins with two major groups, Stx1 and Stx2, expressed by genes considered to be part of the genome of lambdoid prophages. The toxins are named after Kiyoshi Shiga, who first described the bacterial origin of dysentery caused by '' Shigella dysenteriae''. Shiga-like toxin (SLT) is a historical term for similar or identical toxins produced by ''Escherichia coli''. The most common sources for Shiga toxin are the bacteria ''S. dysenteriae'' and some serotypes of ''Escherichia coli'' (STEC), which includes serotypes O157:H7, and O104:H4. Nomenclature Microbiologists use many terms to describe Shiga toxin and differentiate more than one unique form. Many of these terms are used interchangeably. # Shiga toxin type 1 and type 2 (Stx-1 and 2) are the Shiga toxins produced by some'' E. coli'' strains. Stx-1 is identical to Stx of ''Shigella spp.'' or differs by only one amino acid. Stx-2 shares 56% sequence identity with Stx-1. # Cytot ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Escherichia Coli
''Escherichia coli'' (),Wells, J. C. (2000) Longman Pronunciation Dictionary. Harlow ngland Pearson Education Ltd. also known as ''E. coli'' (), is a Gram-negative, facultative anaerobic, rod-shaped, coliform bacterium of the genus '' Escherichia'' that is commonly found in the lower intestine of warm-blooded organisms. Most ''E. coli'' strains are harmless, but some serotypes ( EPEC, ETEC etc.) can cause serious food poisoning in their hosts, and are occasionally responsible for food contamination incidents that prompt product recalls. Most strains do not cause disease in humans and are part of the normal microbiota of the gut; such strains are harmless or even beneficial to humans (although these strains tend to be less studied than the pathogenic ones). For example, some strains of ''E. coli'' benefit their hosts by producing vitamin K2 or by preventing the colonization of the intestine by pathogenic bacteria. These mutually beneficial relationships between ''E ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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