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Abnormal sialylation of O-linked protein glycosylation

MedGen UID:
868530
•Concept ID:
C4022929
•
Finding
HPO: HP:0012362

Definition

An anomaly of the addition of sialic acids to O-linked glycans. [from HPO]

Professional guidelines

PubMed

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.
Ondrušková N, Honzík T, Kytnarová J, Matoulek M, Zeman J, Hansíková H
Prague Med Rep 2015;116(2):73-86. doi: 10.14712/23362936.2015.48. PMID: 26093664
Marked defects in the expression and glycosylation of alpha2-HS glycoprotein/fetuin-A in plasma from neonates with intrauterine growth restriction: proteomics screening and potential clinical implications.
Karamessinis PM, Malamitsi-Puchner A, Boutsikou T, Makridakis M, Vougas K, Fountoulakis M, Vlahou A, Chrousos G
Mol Cell Proteomics 2008 Mar;7(3):591-9. Epub 2007 Dec 7 doi: 10.1074/mcp.M700422-MCP200. PMID: 18065755

Recent clinical studies

Etiology

Cross-talk between Colon Cells and Macrophages Increases ST6GALNAC1 and MUC1-sTn Expression in Ulcerative Colitis and Colitis-Associated Colon Cancer.
Kvorjak M, Ahmed Y, Miller ML, Sriram R, Coronnello C, Hashash JG, Hartman DJ, Telmer CA, Miskov-Zivanov N, Finn OJ, Cascio S
Cancer Immunol Res 2020 Feb;8(2):167-178. Epub 2019 Dec 12 doi: 10.1158/2326-6066.CIR-19-0514. PMID: 31831633Free PMC Article
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.
Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C
J Med Genet 2016 Mar;53(3):180-9. Epub 2015 Dec 14 doi: 10.1136/jmedgenet-2015-103338. PMID: 26668131Free PMC Article
Glycosylation Analysis for Congenital Disorders of Glycosylation.
Li X, Raihan MA, Reynoso FJ, He M
Curr Protoc Hum Genet 2015 Jul 1;86:17.18.1-17.18.22. doi: 10.1002/0471142905.hg1718s86. PMID: 26132001
Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.
Ondrušková N, Honzík T, Kytnarová J, Matoulek M, Zeman J, Hansíková H
Prague Med Rep 2015;116(2):73-86. doi: 10.14712/23362936.2015.48. PMID: 26093664

Diagnosis

Bioinspired Saccharide-Saccharide Interaction and Smart Polymer for Specific Enrichment of Sialylated Glycopeptides.
Li X, Xiong Y, Qing G, Jiang G, Li X, Sun T, Liang X
ACS Appl Mater Interfaces 2016 Jun 1;8(21):13294-302. Epub 2016 May 19 doi: 10.1021/acsami.6b03104. PMID: 27172767
Glycosylation Analysis for Congenital Disorders of Glycosylation.
Li X, Raihan MA, Reynoso FJ, He M
Curr Protoc Hum Genet 2015 Jul 1;86:17.18.1-17.18.22. doi: 10.1002/0471142905.hg1718s86. PMID: 26132001
Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.
Ondrušková N, Honzík T, Kytnarová J, Matoulek M, Zeman J, Hansíková H
Prague Med Rep 2015;116(2):73-86. doi: 10.14712/23362936.2015.48. PMID: 26093664

Clinical prediction guides

Marked defects in the expression and glycosylation of alpha2-HS glycoprotein/fetuin-A in plasma from neonates with intrauterine growth restriction: proteomics screening and potential clinical implications.
Karamessinis PM, Malamitsi-Puchner A, Boutsikou T, Makridakis M, Vougas K, Fountoulakis M, Vlahou A, Chrousos G
Mol Cell Proteomics 2008 Mar;7(3):591-9. Epub 2007 Dec 7 doi: 10.1074/mcp.M700422-MCP200. PMID: 18065755
Different glycosylation profile of serum IgA1 in IgA nephropathy according to the glomerular basement membrane thickness: normal versus thin.
Linossier MT, Palle S, Berthoux F
Am J Kidney Dis 2003 Mar;41(3):558-64. doi: 10.1053/ajkd.2003.50117. PMID: 12612978

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