Glycosyl-phosphatidylinositol anchor synthesis in paroxysmal nocturnal hemoglobinuria: partial or complete defect in an early step

Autor:	J Norris, S Hall, RE Ware, T Kamitani, HM Chang, E Yeh, WF Rosse
Rok vydání:	1994
Předmět:	carbohydrates (lipids) hemic and lymphatic diseases Immunology lipids (amino acids peptides and proteins) Cell Biology Hematology Biochemistry
Zdroj:	Blood. 83:816-821
ISSN:	1528-0020 0006-4971
Popis:	The defect in the biosynthesis of the glycosyl-phosphatidyl inositol (GPI) anchor in paroxysmal nocturnal hemoglobinuria (PNH) appears to be in the initial steps. In biosynthetic studies using [3H]mannose, abnormal granulocytes of eight patients, and B lymphocytes transformed by Epstein-Barr virus of six different patients synthesized dolichyl phosphoryl mannose, but little or no later mannosylated intermediates. When fused with murine cell lines known to be deficient at different biosynthetic steps of the GPI anchor, the GPI-anchor-deficient granulocytes of 21/21 patients and lymphocytes from 6/6 patients complemented all murine cell lines except those of class A; cells of this class are not able to add N-acetylglucosamine to phosphatidylinositol. These studies indicate that the defect in GPI- anchor synthesis in PNH is early in the pathway, and is the same as that of class A mutants, but may be partial in some patients, resulting in the production of small amounts of mannosylated intermediates.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::f0895df5b57b6b9ededefb0e206f79a2 https://doi.org/10.1182/blood.v83.3.816.bloodjournal833816 Zobrazit plný text záznamu