Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.1.1.53 (
sialidase
)
2,694
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Glycosylation, an important post-translation modification, could alter biological activity or influence the clearance rates of glycoproteins. We report here the first example of a heterozygous protein deficiency leading to metabolic alteration of N-glycan structures in residual secreted protein. Analysis of
C1 esterase inhibitor
(
C1INH
) glycans from normal individuals and patients with hereditary deficiency of
C1INH
demonstrated identical O-glycan structures but the N-glycans of patients with a heterozygous genetic deficiency were small, highly charged and lacked
sialidase
releasable N-acetylneuraminic acid. Structural studies indicate that the charge character of these aberrant N-glycan structures may result from the presence of mannose-6-phosphate residues. These residues might facilitate secretion of
C1INH
through an alternate lysosomal pathway, possibly serving as a compensatory mechanism to enhance plasma levels of
C1INH
in these deficient patients.
...
PMID:Metabolic alteration of the N-glycan structure of a protein from patients with a heterozygous protein deficiency. 1560 16
