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Minoru Fukuda - One of the best experts on this subject based on the ideXlab platform.

  • HempaS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test.
    Biochimica et biophysica acta, 1999
    Co-Authors: Minoru Fukuda
    Abstract:

    Congenital dyserythropoietic anemia type II or HempaS (hereditary erythroblastic multinuclearity with positive acidified serum lysis test) is a genetic anemia in humans caused by a glycosylation deficiency. Erythrocyte membrane glycoproteins, such as band 3 and band 4.5, which are normally glycosylated with polylactosamines lack these carbohydrates in HempaS. Polylactosamines accumulate as glycolipids in HempaS erythrocytes. Analysis of N-glycans from HempaS erythrocyte membranes revealed a series of incompletely processed N-glycan structures, indicating defective glycosylation at N-acetylglucosaminyltransferase II (GnT-II) and/or alpha-mannosidase II (MII) steps. Genetic analysis has identified two cases from England in which the MII gene is defective. Mutant mice in which the MII gene was inactivated by homologous recombination resulted in a HempaS-like phenotype. On the other hand, linkage analysis of HempaS cases from southern Italy excluded MII and GnT-II as the causative gene, but identified a gene on chromosome 20q11. HempaS is therefore genetically heterogeneous. Regardless of which gene is defective, HempaS is characterized by incomplete processing of N-glycans. The study of HempaS will identify hitherto unknown factors affecting N-glycan synthesis.

Pamela I. Ellsworth - One of the best experts on this subject based on the ideXlab platform.

Gordon Port - One of the best experts on this subject based on the ideXlab platform.

Mark T. Edney - One of the best experts on this subject based on the ideXlab platform.

M. Saiful Islam - One of the best experts on this subject based on the ideXlab platform.