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Abnormal sialylation of N-linked protein glycosylation

MedGen UID:
868543
Concept ID:
C4022942
Finding
HPO: HP:0012349

Definition

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

Recent clinical studies

Etiology

Xiao Y, Dong X, Chen C, Cui Y, Chu T, Li X, Wang A
J Chromatogr B Analyt Technol Biomed Life Sci 2024 Feb 1;1233:123983. Epub 2023 Dec 27 doi: 10.1016/j.jchromb.2023.123983. PMID: 38163392
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
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

Diagnosis

Kirkgöz K, Vogtmann R, Xie Y, Zhao F, Riedel A, Adam LM, Freitag N, Harms C, Garcia MG, Plösch T, Gellhaus A, Blois SM
J Reprod Immunol 2024 Aug;164:104284. Epub 2024 Jun 18 doi: 10.1016/j.jri.2024.104284. PMID: 38908337
Drake RR, McDowell C, West C, David F, Powers TW, Nowling T, Bruner E, Mehta AS, Angel PM, Marlow LA, Tun HW, Copland JA
J Mass Spectrom 2020 Apr;55(4):e4490. Epub 2020 Jan 21 doi: 10.1002/jms.4490. PMID: 31860772Free PMC Article
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
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
Kobata A, Takeuchi M
Biochim Biophys Acta 1999 Oct 8;1455(2-3):315-26. doi: 10.1016/s0925-4439(99)00060-5. PMID: 10571021

Clinical prediction guides

Kirkgöz K, Vogtmann R, Xie Y, Zhao F, Riedel A, Adam LM, Freitag N, Harms C, Garcia MG, Plösch T, Gellhaus A, Blois SM
J Reprod Immunol 2024 Aug;164:104284. Epub 2024 Jun 18 doi: 10.1016/j.jri.2024.104284. PMID: 38908337
Xiao Y, Dong X, Chen C, Cui Y, Chu T, Li X, Wang A
J Chromatogr B Analyt Technol Biomed Life Sci 2024 Feb 1;1233:123983. Epub 2023 Dec 27 doi: 10.1016/j.jchromb.2023.123983. PMID: 38163392
Okamoto N, Ohto T, Enokizono T, Wada Y, Kohmoto T, Imoto I, Haga Y, Seino J, Suzuki T
Cells 2021 Nov 10;10(11) doi: 10.3390/cells10113117. PMID: 34831340Free PMC Article

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