Fabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of
α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as …

Enzymes catalyze biochemical reactions and play critical roles in human health and
disease. Enzyme variants and deficiencies can lead to variable expression of glycans, which …

2011 年国际输血协会(ISBT) 确认了P1PK 血型系统的抗原, 命名为P1PK, 编号003.
确认该系统有3 个抗原, 分别是: P1, PK, NOR. 本文就目前对P1PK 系统抗原的研究进展 …

Abstract The carbohydrate Galα1-3Galβ1-(3) 4GlcNAc-R (α-Gal) is produced in all mammals
except for humans, apes and old world monkeys that lost the ability to synthetize this …

The human Gb3/CD77 synthase, encoded by the A4GALT gene, is an unusually
promiscuous glycosyltransferase. It synthesizes the Galα1→ 4Gal linkage on two different …

Abstract Human Gb3/CD77 synthase (α1, 4-galactosyltransferase, P1/Pk synthase, UDP-
galactose: β-d-galactosyl-β1-R 4-α-d-galactosyltransferase, EC 2.4. 1.228) forms Galα1→ …

Congenital disorders of glycosylation (CDG) are a large family of rare disorders affecting the
different glycosylation pathways. Defective glycosylation can affect any organ, with varying …

N-glycosylation is a posttranslational modification that influences many protein properties,
such as bioactivity, folding or solubility. The same principles apply to key enzymes in …

Contrary to the mainstream blood group systems, P1PK continues to puzzle and generate
controversies over its molecular background. The P1PK system comprises three …

Contrary to general view that the MHC Class I and II are the kapellmeisters of recognition
and response to antigens, there is another big player in that part of immunity, represented by …