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Article

Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II.

Proceedings of the National Academy of Sciences of the United States of America - 1 Oct 1990

Fukuda M N, Masri K A, Dell A, Luzzatto L, Moremen K W

Abstract excerpt

Congenital dyserythropoietic anemia type II, or hereditary erythroblastic multinuclearity with a positive acidified-serum-lysis test (HEMPAS), is a genetic anemia in humans inherited by an autosomally recessive mode. The enzyme defect in most HEMPAS patients has previously been proposed as a lowered activity of N-acetylglucosaminyltransferase II, resulting in a lack of polylactosamine on proteins and leading to...

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PMID: 2217175
DOI: 10.1073/pnas.87.19.7443
PMCID: PMC54763

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Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II.PMID 2217175Read ↗

HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test.Semantic proximity Read ↗

Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis.Semantic proximity Read ↗

Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS).Semantic proximity Read ↗

Structural and functional consequences of an N-glycosylation mutation (HEMPAS) affecting human erythrocyte membrane glycoproteins.Semantic proximity Read ↗

Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.Semantic proximity Read ↗

The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum.Semantic proximity Read ↗

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.Semantic proximity Read ↗

Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.Semantic proximity Read ↗

Polylactosamines are not obligate receptors for invasion of Plasmodium falciparum malaria as shown in HEMPAS variant II-gal- erythrocytes.Semantic proximity Read ↗

Molecular analysis of glycophorin C deficiency in human erythrocytes.Semantic proximity Read ↗

Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.Semantic proximity Read ↗

Processing by endoplasmic reticulum mannosidases partitions a secretion-impaired glycoprotein into distinct disposal pathways.Semantic proximity Read ↗

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