Article
Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS).
Glycoconjugate journal - 1 May 2008
Denecke Jonas, Kranz Christian, Nimtz Manfred, Conradt Harald S, Brune Thomas, Heimpel Hermann, Marquardt Thorsten
Abstract excerpt
UNLABELLED: Congenital dyserythropoetic anemia type II (CDA II) is characterized by bi- and multinucleated erythroblasts and an impaired N-glycosylation of erythrocyte membrane proteins. Several enzyme defects have been proposed to cause CDA II based on the investigation of erythrocyte membrane glycans pinpointing to defects of early Golgi processing steps. Hitherto no molecular defect could be elucidated. In the...
Topics
- Anemia, Dyserythropoietic, Congenital
- Anion Exchange Protein 1, Erythrocyte
- Antibodies
- Blotting, Western
- Electrophoresis, Polyacrylamide Gel
- Erythrocyte Membrane
- Glycosylation
- Humans
- Infant, Newborn
- Lectins
- Membrane Proteins
- Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase