Abstract:
:Congenital disorders of glycosylation (CDG) are genetic diseases characterized by deficient synthesis (CDG type I) and/or abnormal processing (CDG type II) of glycan moieties linked to protein and lipids. The impact of the molecular defects on protein glycosylation and in turn on the clinical phenotypes of patients with CDG is not yet understood. ALG12-CDG is due to deficiency of ALG12 α1,6-mannosyltransferase that adds the eighth mannose residue on the dolichol-PP-oligosaccharide precursor in the endoplasmic reticulum. ALG12-CDG is a severe multisystem disease associated with low to deficient serum immunoglobulins and recurrent infections. We thoroughly investigated the glycophenotype in a patient with novel ALG12 variants and immunodeficiency. We analyzed serum native transferrin, as first line test for CDG and we profiled serum IgG and total serum N-glycans by a combination of consolidated (N-glycan analysis by MALDI MS) and innovative mass spectrometry-based protocols, such as GlycoWorks RapiFluor N-glycan analysis coupled with LC-ESI MS. Intact serum transferrin showed, as expected for a CDG type I defect, underoccupancy of N-glycosylation sites. Surprisingly, total serum proteins and IgG N-glycans showed some specific changes, consisting in accumulating amounts of definite high-mannose and hybrid structures. As a whole, ALG12-CDG behaves as a dual CDG (CDG-I and II defects) and it is associated with distinct, abnormal glycosylation of total serum and IgG N-glycans. Glycan profiling of target glycoproteins may endorse the molecular defect unraveling the complex clinical phenotype of CDG patients.
journal_name
Glycoconj Jjournal_title
Glycoconjugate journalauthors
Sturiale L,Bianca S,Garozzo D,Terracciano A,Agolini E,Messina A,Palmigiano A,Esposito F,Barone C,Novelli A,Fiumara A,Jaeken J,Barone Rdoi
10.1007/s10719-019-09890-2subject
Has Abstractpub_date
2019-12-01 00:00:00pages
461-472issue
6eissn
0282-0080issn
1573-4986pii
10.1007/s10719-019-09890-2journal_volume
36pub_type
杂志文章abstract::Nucleotide sugar transporters play critical roles in glycosylation of proteins, lipids and proteoglycans, which are essential for organogenesis, development, mammalian cellular immunity and pathogenicity of human pathogenic agents. Functional deficiencies of these transporters result in global defects of glycoconjugat...
journal_title:Glycoconjugate journal
pub_type: 杂志文章,评审
doi:10.1007/s10719-012-9375-4
更新日期:2013-01-01 00:00:00
abstract::Two Arabidopsis xylosyltransferases, designated RGXT1 and RGXT2, were recently expressed in Baculovirus transfected insect cells and by use of the free sugar assay shown to catalyse transfer of D-xylose from UDP-alpha-D-xylose to L-fucose and derivatives hereof. We have now examined expression of RGXT1 and RGXT2 in Pi...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-009-9242-0
更新日期:2009-12-01 00:00:00
abstract::As part of our ongoing program aimed at understanding the structural significance of GlcNAcβAsn linkage conserved in all eukaryotic N-glycoproteins, the present study reports on the synthesis and X-ray crystal structures of N-(3-deoxy-3-acetamido-β-D-glycopyranosyl)acetamide (Glc3NAcβNHAc) and the corresponding propio...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-011-9357-y
更新日期:2011-12-01 00:00:00
abstract::The partial oligosaccharide sequences of glycoconjugates and the nature of their glycosidic linkages were investigated in normal human prostate, benign prostatic hyperplasia (BPH) and prostatic carcinoma by means of lectin histochemistry, using light microscopy and Western blot analysis. The labeling pattern of BPH di...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1023/a:1007012514118
更新日期:1999-07-01 00:00:00
abstract::Maackia amurensis haemagglutinin (MAH) is a leguminous lectin which preferentially binds to a cluster of sialylated O-linked carbohydrate chains (Konami Y, Yamamoto K. Osawa T, Irimura T (1994) FEBS Lett 342:334-38). In the present study a 950 bp cDNA clone encoding MAH was isolated from a cDNA library constructed fro...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/BF00731308
更新日期:1994-12-01 00:00:00
abstract::Because anti-glycolipid antibodies are involved in the onset of several neurological diseases, the reactivity of glycolipids on erythrocytes and the probability of generating the antibodies were determined to clarify the contribution of glycolipids as antigens. Anti-erythrocyte antisera reacted with the following glyc...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-008-9197-6
更新日期:2009-05-01 00:00:00
abstract::A group of fluorescent statistical glycopolymers, prepared via reversible addition-fragmentation chain-transfer (RAFT)-based polymerizations, were successfully employed in lectin-mediated bacterial binding studies. The resultant glycopolymers contained three different monomers: N-(2-hydroxyethyl) acrylamide (HEAA), N-...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-013-9508-4
更新日期:2014-02-01 00:00:00
abstract::Frog integumentary mucin B.1 (FIM-B.1) represents a polymorphic extracellular mosaic protein which contains tandemly arranged serine/threonine-rich modules as well as cysteine-rich domains. The latter are probably important for oligomerization of FIM-B.1 and have also been found in many proteins of the complement casc...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/BF00702337
更新日期:1996-10-01 00:00:00
abstract::We have used two methods to evaluate the level of expression of Gb3Cer in several human leukaemia/lymphoma cell lines representative of the myeloid (K562, KG-1, HL-60, and lymphoid (Reh, Daudi, Raji, RPMI 8226, CCRF-CEM, MOLT-4) lineages blocked at varied stages of differentiation. TLC immunostaining of glycolipid ext...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/BF00731265
更新日期:1995-10-01 00:00:00
abstract::Altered glycosylation of plasma proteins has been directly implicated in the pathogenesis of rheumatoid arthritis (RA). The present study investigated the changes in the Concanavalin-A (Con-A)-bound plasma proteins in the RA patients in comparison to that of the healthy controls. Two proteins (MW approximately 32 kDa ...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-006-7922-6
更新日期:2006-05-01 00:00:00
abstract::We have previously shown that murine resident peritoneal macrophages (PEMs) are activated in response to uptake of oligomannose-coated liposomes (OMLs), leading to production of interleukin (IL)-12. To understand the mechanism of activation of PEMs by OMLs, in the present study we investigated the role of a mannose-bi...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-010-9298-x
更新日期:2010-07-01 00:00:00
abstract::Abnormal glycosylation of proteins is known to be either resultant or causative of a variety of diseases. This makes glycoproteins appealing targets as potential biomarkers and focal points of molecular studies on the development and progression of human ailment. To date, a majority of efforts in disease glycoproteomi...
journal_title:Glycoconjugate journal
pub_type: 杂志文章,评审
doi:10.1007/s10719-016-9663-5
更新日期:2016-06-01 00:00:00
abstract::Transmannosylation from mannotriose (Man beta 1-4Man beta 1-4Man) to the 4-position at the nonreducing end N-acetylglucosaminyl residue of N,N'-diacetylchitobiose was regioselectively induced through the use of beta-D-mannanase from Aspergillus niger. The enzyme formed the trisaccharide Man beta 1-4GlcNAc beta 1-4GlcN...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/BF00731150
更新日期:1994-04-01 00:00:00
abstract::Heteropolysaccarides were isolated from the Korean medicinal plant, Phellodendri cortex (Hwangbek), by hot water and alkali extractions. The extracted polysaccharides were fractionated into eight fractions and they are mainly composed of D-N-acetylglucosamine, D-galactose, D-mannose, and D-glucose. Among the polysacch...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1023/a:1007084506071
更新日期:1999-03-01 00:00:00
abstract::Exposure of neuronal cells to nanomolar concentrations of oligosaccharide portions of ganglioside GM2 and GT1b stimulates cAMP-dependent protein kinase (PKA) Ca2+/calmodulin-dependent protein kinase II (CaMKII), respectively, in a few seconds suggesting the presence of glyco-receptor-like molecules on the surface of t...
journal_title:Glycoconjugate journal
pub_type: 杂志文章,评审
doi:10.1023/B:GLYC.0000016742.88750.1a
更新日期:2004-01-01 00:00:00
abstract::Glycosylation is a very important post-translational modification involved in various cellular processes, such as cell adhesion, signal transduction and immune response. Urine is a rich source of glycoproteins and attractive biological fluid for biomarker discovery, owing to its availability, ease of collection, and c...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-016-9677-z
更新日期:2016-12-01 00:00:00
abstract::Three-dimensional structures of the natural substrate unit for the enzyme N-acetylglucosamine-transferase II, GIcNAc-Man3-GlcNAc2, were investigated by molecular modelling methods. Molecular dynamics (MD) and molecular mechanics calculations on two hexasaccharides, namely GlcNAc-Man3-GlcNAc2-Asn and GlcNAc-Man3-GlcNAc...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1023/a:1006976408074
更新日期:1998-02-01 00:00:00
abstract::Previous studies had established an over-expression of 9-O-acetylated sialoglycoproteins (Neu5,9Ac(2)-GPs) on lymphoblasts of childhood acute lymphoblastic leukaemia (ALL). Here, we report the discovery and characterization of sialate-O-acetyltransferase enzyme in ALL-cell lines and lymphoblasts from bone marrow of ch...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-008-9163-3
更新日期:2009-01-01 00:00:00
abstract::N-Acetylneuraminic acid (a sialic acid) occurs mainly as a terminal substituent of oligosaccharides of glycoconjugates. Derivatives of neuraminic acid occur widely, substituted in the amino and hydroxy side chains, as well in the C-9 carbon skeleton. These derivatives are responsible for specific functions of sialic a...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1023/a:1006965600322
更新日期:1998-04-01 00:00:00
abstract::The current study aims to determine the healing activity of water soluble polysaccharide-rich fraction of a wild mushroom, Termitomyces eurhizus (TEps) against the indomethacin induced gastric ulceration in mice model. Gastric tissue histology, myeloperoxidase (MPO) activity, cyclooxygenases (COX) 1 and 2 expression, ...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-013-9479-5
更新日期:2013-11-01 00:00:00
abstract::Galectin-3 is a beta-galactoside-binding protein involved in immunomodulation, cell interactions, cancer progression, and pathogenesis of infectious organisms. We report the identification and characterization of galectin-3 in human semen. In the male reproductive tract, the approximately 30 kDa galectin-3 protein was...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-009-9262-9
更新日期:2010-02-01 00:00:00
abstract::A non-enzymatic reaction between sugars or aldehydes and the amino groups of proteins, lipids and nucleic acids contributes to the aging of macromolecules, which could impair their structural integrity and function. This process begins with the conversion of reversible Schiff base adducts, and then to more stable, cov...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-016-9682-2
更新日期:2016-08-01 00:00:00
abstract::Homology searches indicated that up to five class I α-mannosidases (glycohydrolase family 47) and eight class II α-mannosidases (glycohydrolase family 38) are encoded by the fruitfly (Drosophila melanogaster) genome. Selected example mannosidases were expressed in secreted form using the yeast Pichia pastoris. A numbe...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-013-9495-5
更新日期:2013-12-01 00:00:00
abstract::Synthetic thioglycoside-analogs of gangliosides such as Neu5Ac alpha(2-S-6)Glc beta(1-1)Ceramide (1) and the GM3 analog Neu5Ac alpha(2-S-6)Gal beta(1-4)Glc beta(1-1)Ceramide (2), competitively inhibited GM3 hydrolysis by the sialidase of different subtypes of human and animal influenza viruses with an apparent Ki valu...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/BF01073378
更新日期:1990-01-01 00:00:00
abstract::Cultured chondrocytes derived from the caudal and cephalic ends of embryonic chick sterna have been compared with each other and with whole sternum, by using a panel of 21 lectins to probe the distribution of oligosaccharides in glycoconjugates of cells and matrix at various times of culture or development. On culture...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1023/a:1018526813159
更新日期:1997-04-01 00:00:00
abstract::The interaction between Urtica dioica agglutinin (UDA) and N-acetylglucosamine (GlcNAc) and its beta(1-4)-linked oligomers was studied by fluorescence titration and isothermal titration microcalorimetry. UDA possesses one significant binding site that can be measured calorimetrically. This site is composed of three su...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1023/a:1006976129458
更新日期:1998-07-01 00:00:00
abstract::The structures of the branched capsular polysaccharides of group B streptococcus type III (GBSIIIPS) and Streptococcus pneumoniae type 14 (Pn14PS) are identical apart from the (α2→3)-linked sialic acid in the side chains of GBSIIIPS. The present study tries to determine the minimal epitope in GBSIIIPS, using both a pa...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-011-9354-1
更新日期:2011-12-01 00:00:00
abstract::Trichomonas vaginalis causes the most common non-viral sexually transmitted infection linked to increased risk of premature birth, cervical cancer and HIV. This study defines molecular domains of the parasite surface glycoconjugate lipophosphoglycan (LPG) with distinct functions in the host immunoinflammatory response...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-008-9157-1
更新日期:2009-01-01 00:00:00
abstract::Human Gb3/CD77 synthase (α1,4-galactosyltransferase) is the only known glycosyltransferase that changes acceptor specificity because of a point mutation. The enzyme, encoded by A4GALT locus, is responsible for biosynthesis of Gal(α1-4)Gal moiety in Gb3 (CD77, Pk antigen) and P1 glycosphingolipids. We showed before tha...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-016-9716-9
更新日期:2016-12-01 00:00:00
abstract::UDP-2-(2-ketopropyl)galactose (1) has been utilized as a valuable probe for profiling proteins modified by O-GlcNAc. In this work, we developed a protocol for efficient synthesis of 1. Thus, 2-methallylgalactose derivative 11, a synthetic intermediate for the compound 1, was prepared by stereoselective iodination and ...
journal_title:Glycoconjugate journal
pub_type: 杂志文章
doi:10.1007/s10719-015-9581-y
更新日期:2015-10-01 00:00:00