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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's Disease
Gaucher's disease or Gaucher disease () (GD) is a genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ... in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue (medical), 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, Human lung, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genzyme
Genzyme was an American biotechnology company based in Cambridge, Massachusetts. Since its acquisition in 2011, Genzyme (also known as Genzyme Transgenics Corp or GTC Biotherapeutics) has been a fully owned subsidiary of Sanofi. In 2010, Genzyme was the world’s third-largest biotechnology company, employing more than 11,000 people around the world. As a subsidiary of Sanofi, Genzyme has a presence in approximately 65 countries, including 17 manufacturing facilities and 9 genetic-testing laboratories. Its products are also sold in 90 countries. In 2007, Genzyme generated $3.8 billion in revenue with more than 25 products on the market. In 2006 and 2007, Genzyme was named one of ''Fortune'' magazine’s “100 Best Companies to Work for”. The company donated $83 million worth of products worldwide; in 2006, it made $11 million in cash donations. In 2005, Genzyme was awarded the National Medal of Technology, the highest level of honor awarded by the president of the United States ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Imiglucerase
Imiglucerase is a medication used in the treatment of Gaucher's disease. It is a recombinant DNA-produced analogue of the human enzyme β-glucocerebrosidase. Cerezyme is a freeze-dried medicine containing imiglucerase, manufactured by Genzyme Corporation. It is given intravenously after reconstitution as a treatment for Type 1 and Type 3 Gaucher's disease. It is available in formulations containing 200 or 400 units per vial. The specific activity of highly purified human enzyme is 890,000 units/mg, meanwhile the enzyme activity produced by recombinant DNA technology is approximately 40 units/mg. A typical dose is 2.5U/kg every two weeks, up to a maximum of 60 U/kg once every two weeks, and safety has been established from ages 2 and up. It is one of more expensive medications, with an annual cost of $200,000 per person in the United States. Imiglucerase has been granted orphan drug status in the United States, Australia, and Japan. Cerezyme was one of the drugs manufactured at ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sanofi
Sanofi S.A. is a French multinational pharmaceutical and healthcare company headquartered in Paris, France. Originally, the corporation was established in 1973 and merged with Synthélabo in 1999 to form Sanofi-Synthélabo. In 2004, Sanofi-Synthélabo merged with Aventis and renamed to Sanofi-Aventis, which were each the product of several previous mergers. It changed its name back to Sanofi in May 2011. The company is a component of the Euro Stoxx 50 stock market index. Sanofi engages in the research and development, manufacturing and marketing of pharmaceutical drugs principally in the prescription market, but the firm also develops over-the-counter medication. The corporation covers seven major therapeutic areas: cardiovascular, central nervous system, diabetes, internal medicine, oncology, thrombosis and vaccines (it is the world's largest producer of the latter through its subsidiary Sanofi Pasteur). History Sanofi-Synthélabo Sanofi was founded in 1973 as a subsidia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oral Administration
Oral administration is a route of administration where a substance is taken through the mouth. Per os abbreviated to P.O. is sometimes used as a direction for medication to be taken orally. Many medications are taken orally because they are intended to have a systemic effect, reaching different parts of the body via the bloodstream, for example. Oral administration can be easier and less painful than other routes, such as injection. However, the onset of action is relatively low, and the effectiveness is reduced if it is not absorbed properly in the digestive system, or if it is broken down by digestive enzymes before it can reach the bloodstream. Some medications may cause gastrointestinal side effects, such as nausea or vomiting, when taken orally. Oral administration can also only be applied to conscious patients, and patients willing and able to swallow. Terminology ''Per os'' (; ''P.O.'') is an adverbial phrase meaning literally from Latin "through the mouth" or "by mouth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medication
A medication (also called medicament, medicine, pharmaceutical drug, medicinal drug or simply drug) is a drug used to diagnose, cure, treat, or prevent disease. Drug therapy (pharmacotherapy) is an important part of the medical field and relies on the science of pharmacology for continual advancement and on pharmacy for appropriate management. Drugs are classified in multiple ways. One of the key divisions is by level of control, which distinguishes prescription drugs (those that a pharmacist dispenses only on the order of a physician, physician assistant, or qualified nurse) from over-the-counter drugs (those that consumers can order for themselves). Another key distinction is between traditional small molecule drugs, usually derived from chemical synthesis, and biopharmaceuticals, which include recombinant proteins, vaccines, blood products used therapeutically (such as IVIG), gene therapy, monoclonal antibodies and cell therapy (for instance, stem cell therapies) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tartrate
A tartrate is a salt or ester of the organic compound tartaric acid, a dicarboxylic acid. The formula of the tartrate dianion is O−OC-CH(OH)-CH(OH)-COO− or C4H4O62−. The main forms of tartrates used commercially are pure crystalline tartaric acid used as an acidulant in non-alcoholic drinks and foods, cream of tartar used in baking, and Rochelle salt, commonly used in electroplating solutions. As food additives As food additives, tartrates are used as antioxidants, acidity regulators, and emulsifiers. Examples include *sodium tartrates ( E335) **monosodium tartrate **sodium tartrate **sodium ammonium tartrate the compound through which Louis Pasteur discovered chirality *potassium tartrates ( E336) **potassium bitartrate (monopotassium tartrate, cream of tartar) **potassium tartrate *potassium sodium tartrate ( E337) *calcium tartrate ( E354, used as emulsifier) * stearyl tartrate ( E483, used as emulsifier) In wine In wine, tartrates are the harmless crystalline depo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Salt (chemistry)
In chemistry, a salt is a chemical compound consisting of an ionic assembly of positively charged cations and negatively charged anions, which results in a compound with no net electric charge. A common example is table salt, with positively charged sodium ions and negatively charged chloride ions. The component ions in a salt compound can be either inorganic, such as chloride (Cl−), or organic, such as acetate (). Each ion can be either monatomic, such as fluoride (F−), or polyatomic, such as sulfate (). Types of salt Salts can be classified in a variety of ways. Salts that produce hydroxide ions when dissolved in water are called ''alkali salts'' and salts that produce hydrogen ions when dissolved in water are called ''acid salts''. ''Neutral salts'' are those salts that are neither acidic nor basic. Zwitterions contain an anionic and a cationic centre in the same molecule, but are not considered salts. Examples of zwitterions are amino acids, many metabolites, peptid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ceramide Glucosyltransferase
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] |
Journal Of The American Medical Association
''The Journal of the American Medical Association'' (''JAMA'') is a peer-reviewed medical journal published 48 times a year by the American Medical Association. It publishes original research, reviews, and editorials covering all aspects of biomedicine. The journal was established in 1883 with Nathan Smith Davis as the founding editor. Kirsten Bibbins-Domingo of the University of California San Francisco became the journal editor-in-chief on July 1, 2022, succeeding Howard Bauchner of Boston University. History The journal was established in 1883 by the American Medical Association and superseded the ''Transactions of the American Medical Association''. ''Councilor's Bulletin'' was renamed the ''Bulletin of the American Medical Association'', which later was absorbed by the ''Journal of the American Medical Association''. In 1960, the journal obtained its current title, ''JAMA: The Journal of the American Medical Association''. The journal is commonly referred to as ''JAMA''. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Substrate Reduction Therapy
Substrate reduction therapy offers an approach to treatment of certain metabolic disorders, especially glycogen storage diseases and lysosomal storage disorders. In a storage disorder, a critical failure in a metabolic pathway prevents cellular breakdown and disposal of some large molecule. If residual breakdown through other pathways is insufficient to prevent harmful accumulation, the molecule accumulates in the cell and eventually interferes with normal biological processes. Examples of lysosomal storage disorders include Gaucher's disease, Tay–Sachs disease, Sandhoff disease, and Sanfilippo syndrome. In a metabolic or genetic pathway, enzymes catalyze a series of reactions. Each enzyme is regulated or mediated by one gene through its RNA and protein products. At each phase in the pathway, enzyme activity catalyzes a reaction in which a precursor molecule (the substrate) is transformed into its next intermediate state. Failure of the metabolic pathway leads to accumulation of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Norman Radin
Norman S. Radin was a neurochemist who, along with Jim Shayman, developed eliglustat, a drug for treating Gaucher's disease. Born in New York City, he received a B.S. in 1941 and Ph.D. in 1949 from Columbia University, later becoming an associate professor at Northwestern University before moving to the University of Michigan. Norman was a recipient of the National Institutes of Health Javits Neuroscience Investigator Award. He married Norma Levinson on December 23, 1947, in Portland, Oregon and died on January 21, 2013, at his home in Cupertino, California Cupertino ( ) is a city in Santa Clara County, California, United States, directly west of San Jose on the western edge of the Santa Clara Valley with portions extending into the foothills of the Santa Cruz Mountains. The population was 57,82 .... Norma, professor emeritus of social work at the University of Michigan, died of cancer on September 24, 1998. References 2013 deaths People from New York City American neu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
