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Article

A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.

The Journal of biological chemistry - 2 Nov 2012

Suchanowska Anna, Kaczmarek Radoslaw, Duk Maria, Lukasiewicz Jolanta, Smolarek Dorota, Majorczyk Edyta, Jaskiewicz Ewa, Laskowska Anna, Wasniowska Kazimiera, Grodecka Magdalena, Lisowska Elwira, Czerwinski Marcin

Abstract excerpt

Rare polyagglutinable NOR erythrocytes contain three unique globoside (Gb4Cer) derivatives, NOR1, NOR(int), and NOR2, in which Gal(α1-4), GalNAc(β1-3)Gal(α1-4), and Gal(α1-4)GalNAc(β1-3)Gal(α1-4), respectively, are linked to the terminal GalNAc residue of Gb4Cer. NOR1 and NOR2, which both termina...

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PMID: 22965229
DOI: 10.1074/jbc.M112.408286
PMCID: PMC3488091

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22965229-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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