Abnormal fucosylation of protein N-linked glycosylation

MedGen UID:: 868540
•Concept ID:: C4022939
•: Finding

HPO:	HP:0012352

Definition

An anomaly of the addition of fucose sugar units to N-linked glycans. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal fucosylation of protein N-linked glycosylation

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal metabolism
    - Abnormal glycosylation
      - Abnormal protein glycosylation
        Abnormal protein N-linked glycosylation
        Abnormal fucosylation of protein N-linked glycosylation
        Decreased fucosylation of N-linked protein glycosylation
        Increased fucosylation of N-linked protein glycosylation

Recent clinical studies

Diagnosis

Defining the human kidney N-glycome in normal and cancer tissues using MALDI imaging mass spectrometry.

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: 31860772 Free PMC Article

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Therapy

Overexpression of α (1,6) fucosyltransferase in the development of castration-resistant prostate cancer cells.

Höti N, Yang S, Hu Y, Shah P, Haffner MC, Zhang H
Prostate Cancer Prostatic Dis 2018 Apr;21(1):137-146. Epub 2018 Jan 16 doi: 10.1038/s41391-017-0016-7. PMID: 29339807 Free PMC Article

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Prognosis

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH
Am J Hum Genet 2018 Jan 4;102(1):188-195. doi: 10.1016/j.ajhg.2017.12.009. PMID: 29304374 Free PMC Article

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.

Maratha A, Stockmann H, Coss KP, Estela Rubio-Gozalbo M, Knerr I, Fitzgibbon M, McVeigh TP, Foley P, Moss C, Colhoun HO, van Erven B, Stephens K, Doran P, Rudd P, Treacy E
Eur J Hum Genet 2016 Jul;24(7):976-84. Epub 2016 Jan 6 doi: 10.1038/ejhg.2015.254. PMID: 26733289 Free PMC Article

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Clinical prediction guides

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.

Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc).

Sturla L, Rampal R, Haltiwanger RS, Fruscione F, Etzioni A, Tonetti M
J Biol Chem 2003 Jul 18;278(29):26727-33. Epub 2003 May 8 doi: 10.1074/jbc.M304068200. PMID: 12738772

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Abnormal fucosylation of protein N-linked glycosylation

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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