Isofagomine tartrate
Encyclopedia
Isofagomine tartrate is an experimental drug for the treatment of certain forms of Gaucher's disease
, developed by Amicus Therapeutics and Shire plc.
It has been granted orphan drug
status by the European Medicines Agency
(EMA). Isofagomine way invented Mikael Bols
and Troels Skrydstrup, and was first prepared by Jespersen and Bols.
, an enzyme needed for the metabolisation of glucocerebroside
, is misfolded in individuals with Gaucher's disease due to various mutations, one of which is called N370S. Isofagomine binds selectively to N370S glucocerebrosidase and restores its correct conformation
and, consequently, enhances its activity about threefold.
Gaucher's disease
Gaucher's disease is a genetic disease in which a fatty substance accumulates in cells and certain organs.Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid...
, developed by Amicus Therapeutics and Shire plc.
It has been granted orphan drug
Orphan drug
An orphan drug is a pharmaceutical agent that has been developed specifically to treat a rare medical condition, the condition itself being referred to as an orphan disease...
status by the European Medicines Agency
European Medicines Agency
The European Medicines Agency is a European agency for the evaluation of medicinal products. From 1995 to 2004, the European Medicines Agency was known as European Agency for the Evaluation of Medicinal Products.Roughly parallel to the U.S...
(EMA). Isofagomine way invented Mikael Bols
Mikael Bols
Mikael Bols is a synthetic organic chemist who is mainly known for his work on carbohydrates and artificial enzymes.-Early life:Mikael Bols was born and grew up in Copenhagen, Denmark...
and Troels Skrydstrup, and was first prepared by Jespersen and Bols.
Mechanism of action
β-glucocerebrosidaseGlucocerebrosidase
β-Glucocerebrosidase is an enzyme with glucosylceramidase activity that is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism...
, an enzyme needed for the metabolisation of glucocerebroside
Glucocerebroside
Glucocerebroside is any of the cerebrosides in which the monosaccharide head group is glucose.-Clinical significance:...
, is misfolded in individuals with Gaucher's disease due to various mutations, one of which is called N370S. Isofagomine binds selectively to N370S glucocerebrosidase and restores its correct conformation
Protein structure
Proteins are an important class of biological macromolecules present in all organisms. Proteins are polymers of amino acids. Classified by their physical size, proteins are nanoparticles . Each protein polymer – also known as a polypeptide – consists of a sequence formed from 20 possible L-α-amino...
and, consequently, enhances its activity about threefold.
See also
- ImigluceraseImigluceraseImiglucerase is a medication used in the treatment of Gaucher's disease.It is a recombinant DNA-produced analogue of human β-glucocerebrosidase....
, a recombinant human β-glucocerebrosidase for enzyme replacement therapy of Gaucher's disease - MiglustatMiglustatMiglustat is a drug developed by and is used primarily to treat Type 1 Gaucher disease . It is marketed under the trade name Zavesca. Miglustat is an imino sugar , a synthetic analogue of D-glucose and a white to off-white crystalline solid that has a bitter taste...
, another orphan drug for the treatment of Gaucher's disease with a different mechanism of action