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Gaucher disease

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Ashkenazim

Ashkenazim  

Reference type:
Overview Page
Subject:
Religion
Jews whose ancestors lived in the Middle Ages in Germany and the surrounding countries, as distinct from those with a Spanish or oriental ancestry, the Sephardim. The name Ashkenaz in the Bible ...
beta-glucosidase

beta-glucosidase  

Reference type:
Overview Page
1. A cytosolic enzyme (469 aa, EC 3.2.1.21) involved in the metabolism of dietary flavonoid glycosides.2. A lysosomal enzyme (glucosylceramidase, EC 3.2.1.45, 536 aa) that catalyses the breakdown of ...
cerebroside

cerebroside  

Any one of a class of glycolipids in which a single sugar unit is bound to a sphingolipid (see phospholipid). The most common cerebrosides are galactocerebrosides, containing the sugar group ...
chitotriosidase

chitotriosidase  

An enzyme able to hydrolyse the trisaccharide derived from chitin. Activities are greatly elevated in Gaucher's disease, in which it is used as a marker to assess whether enzyme replacement therapy ...
Gaucher's disease

Gaucher's disease   Reference library

Oxford Dictionary of Biochemistry and Molecular Biology (2 ed.)

Reference type:
Subject Reference
Current Version:
2008
Subject:
Science and technology, Life Sciences
Length:
110 words

an autosomal recessive lysosomal storage disease characterized by glucosylceramide accumulation, especially in macrophages in spleen, bone marrow, and liver, with

glucocerebroside

glucocerebroside  

Any of certain compounds related to sphingomyelins. They differ in that the phosphorylcholine seen in sphingomyelin (q.v.) is replaced by glucose. See cerebroside, Gaucher disease.
glucosylceramidase

glucosylceramidase  

EC 3.2.1.45; other names: β‐glucocerebrosidase; acid β‐glucosidase; systematic name: d‐glucosyl‐N‐acylsphingosine glucohydrolase; a lysosomal glycoprotein enzyme that catalyses the hydrolysis of ...
histiocytosis

histiocytosis  

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Overview Page
n. any of a group of diseases in which there are abnormalities in certain large phagocytic cells (histiocytes) due to (1) abnormal storage of fats, as in Gaucher’s disease; (2) inflammatory ...
lipid disorders

lipid disorders  

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Overview Page
The major lipid disorders (lipidoses) are ones in which plasma lipid levels are abnormal, as in hyperlipidaemia, hypercholesterolaemia and chylomicron retention disease. See also apolipoprotein B; ...
lipidosis

lipidosis  

Reference type:
Overview Page
(lipoidosis) n. ( pl. lipidoses) any disorder of lipid metabolism within the cells of the body. The brain lipidoses (see Gaucher’s disease, Hunter’s syndrome, Hurler’s syndrome, Tay-Sachs disease) ...
macrophage

macrophage  

A large, phagocytic (see phagocyte; phagocytosis), white blood cell, which occurs in large numbers at sites of infection where it is instrumental in removing foreign cells and cell debris. ...
osteonecrosis

osteonecrosis  

Reference type:
Overview Page
n. death of bony tissue, usually adjacent to a joint surface where it is enclosed by avascular cartilage. It is usually caused by loss of blood supply (avascular necrosis) due to trauma and is a ...
saposin

saposin  

A set of small Trp-free, multifunctional glycoproteins (co-β-glucosidase, A1 activator, glucosylceramidase activator, SAP-A–D, 81 aa) derived from a single precursor, prosaposin, that act as ...
sphingolipidosis

sphingolipidosis  

(pl. sphingolipidoses)any inherited pathological condition in humans in which one or more sphingolipids accumulate in the tissues because of a deficiency of the corresponding degradative enzyme. They ...
storage diseases

storage diseases  

Reference type:
Overview Page
Diseases in which there is a deficiency of a lysosomal enzyme and undigested substrate for that enzyme accumulates within cells. The storage diseases are not immediately fatal, but within a few years ...

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