Glucosylceramide Synthase

	Glucosylceramide Synthase Ceramide glucosyltransferase (or glucosylceramide synthase) is a glucosyltransferase enzyme involved in the production of glucocerebroside. It is classified under . It is inhibited by miglustat and eliglustat, both drugs developed for the treatment of Gaucher disease. See also * Glucocerebroside Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose. Clinical significance In Gaucher disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucoce ... References External links * Transferases {{transferase-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Glucosyltransferase Glucosyltransferases are a type of glycosyltransferase that enable the transfer of glucose. Examples include: * glycogen synthase * glycogen phosphorylase Glycogen phosphorylase is one of the phosphorylase enzymes (). Glycogen phosphorylase catalyzes the rate-limiting step in glycogenolysis in animals by releasing glucose-1-phosphate from the terminal alpha-1,4-glycosidic bond. Glycogen phosphory ... They are categorized under EC number 2.4.1. References External links * EC 2.4 {{2.4-enzyme-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Glucocerebroside Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose. Clinical significance In Gaucher disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome. See also * Glucosylceramide synthase * Gauchers disease * Glucocerebrosidase β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity () that is needed to cleave, by hydrolysis, the beta-glycosidic linkage of the chemical g ... References External links * * Glycolipids Carbohydrates {{biochem-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Miglustat Miglustat, sold under the brand name Zavesca, is a medication used to treat type I Gaucher disease (GD1). It is also known as N-butyldeoxynojirimycin, and is a derivative of the anti-diabetic 1-deoxynojirimycin. It was developed by Oxford GlycoSciences and is marketed by Actelion. Miglustat has been approved in the EU, Japan, and Canada for treating progressive neurological complications in people with Niemann–Pick disease, type C (NPC). It was approved for medical use in the European Union in November 2002, and for medical use in the United States in July 2003. Medical uses Miglustat is indicated to treat adults with mild to moderate type I Gaucher disease for whom enzyme replacement therapy is unsuitable. Contraindications Miglustat is contraindicated for people with neurological conditions, kidney problems, women who are pregnant, and men and women planning to conceive a child. Adverse effects Serious side effects include pain, burning, numbness or tingling in the hands ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Eliglustat Eliglustat, sold under the brand name Cerdelga, is a medication used for the treatment of Gaucher's disease. It was discovered at the University of Michigan, developed by Genzyme, Genzyme Corp, and was approved by the FDA in August 2014. Commonly used as the tartrate salt (chemistry), salt, the compound is believed to work by inhibition of Ceramide glucosyltransferase, glucosylceramide synthase. According to an article in ''Journal of the American Medical Association'' the oral substrate reduction therapy resulted in "significant improvements in spleen volume, hemoglobin level, liver volume, and platelet count" in untreated adults with Gaucher disease Type 1. History Norman Radin began exploring the possibility of inhibiting the synthesis of lipid substrates involved in Gaucher's disease as early as 1982, and, in collaboration with the laboratory of Jim Shayman, found several candidate inhibitors in the mid-1990s. Genzyme initially rejected the candidates developed by Radin and Sha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Gaucher Disease Gaucher's disease or Gaucher disease () (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes, which is often a target for intracellular parasites). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow. Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Glucocerebroside Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose. Clinical significance In Gaucher disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome. See also * Glucosylceramide synthase * Gauchers disease * Glucocerebrosidase β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity () that is needed to cleave, by hydrolysis, the beta-glycosidic linkage of the chemical g ... References External links * * Glycolipids Carbohydrates {{biochem-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]