Biomaterial Database

Purification and characterization of altered cystic fibrosis liver alpha-L-fucosidase. 1978

J A Alhadeff, and P Watkins, and H Freeze

alpha-L-Fucosidase (E.C.3.2.4.51) from two cystic fibrosis livers has been purified and characterized. Purification was accomplished by an affinity chromatographic procedure previously used for normal liver alpha-L-fucosidase. Characterization of the two cystic fibrosis alpha-L-fucosidases indicated that they were very similar to normal liver alpha-L-fucosidase with regard to pH optima profiles, Michaelis constants (Km's), subunit structure and antigenicity. However, gas liquid chromatographic analysis revealed altered carbohydrate compositions for both the cystic fibrosis alpha-L-fucosidases. The three major sugars found in normal purified liver alpha-L-fucosidase (mannose, N-acetylglucosamine and sialic acid) were reduced in the cystic fibrosis alpha-L-fucosidases, on average, to 51%, 44% and 32%, respectively, of their normal amounts.

UI	MeSH Term	Description	Entries
D007525	Isoelectric Focusing	Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point.	Electrofocusing,Focusing, Isoelectric
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D002241	Carbohydrates	A class of organic compounds composed of carbon, hydrogen, and oxygen in a ratio of Cn(H2O)n. The largest class of organic compounds, including STARCH; GLYCOGEN; CELLULOSE; POLYSACCHARIDES; and simple MONOSACCHARIDES.	Carbohydrate
D003550	Cystic Fibrosis	An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.	Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D004591	Electrophoresis, Polyacrylamide Gel	Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.	Polyacrylamide Gel Electrophoresis,SDS-PAGE,Sodium Dodecyl Sulfate-PAGE,Gel Electrophoresis, Polyacrylamide,SDS PAGE,Sodium Dodecyl Sulfate PAGE,Sodium Dodecyl Sulfate-PAGEs
D005644	alpha-L-Fucosidase	An enzyme that catalyzes the hydrolysis of an alpha L-fucoside to yield an alcohol and L-fucose. Deficiency of this enzyme can cause FUCOSIDOSIS. EC 3.2.1.51.	Fucosidase,alpha-Fucosidase,alpha Fucosidase,alpha L Fucosidase
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man