Diseases of aberrant glycosylation

• Autorzy: Koscielak J.
• Języki publikacji: EN

Abstrakty

EN

Recently a defective glycosylation of glycoconjugates has been implicated in the pathogenesis of a number of heritable or acquired diseases of humans. Herein I discuss them under the name of diseases of aberrant glycosylation. These are: conge­nital dyserythropoietic anemia type II, carbohydrate-deficient glycoprotein syndrome, I-cell disease, galactosemia in subjects on galactose-free diet, variants of leukocyte adhesion deficiency, and of Ehlers-Danlos syndrome, paroxysmal nocturnal hemo­globinuria, and Tn syndrome. Regarding the present views on the function of glyco­conjugates it is probably significant that in most instances defective or missing glycoproteins (or proteoglycans,) but not glycosphingolipids, are probably involved in the pathogenesis of these diseases.

Słowa kluczowe

EN

Tn syndrome; aberrant glycosylation; human disease; cell disease; glycoprotein; carbohydrate-deficient glycoprotein syndrome; paroxysmal nocturnal hemoglobinuria; congenital dyserythropoietic anaemia type II; leucocyte adhesion deficiency; glycolipid; galactose; Ehlers-Danlos syndrome

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 1995
• Tom: 42
• Numer: 1
• Opis fizyczny: p.1-10,fig.

Twórcy

autor

Koscielak J.

• Institute of Hematology and Blood Transfusion, Chocimska 5, 00-957 Warsaw, Poland

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