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Decreased galactosylation of N-linked protein glycosylation

MedGen UID:
868544
Concept ID:
C4022943
Finding
HPO: HP:0012348

Definition

A reduction in the amount of galactose residues of N-glycans. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased galactosylation of N-linked protein glycosylation

Professional guidelines

PubMed

Collins ES, Galligan MC, Saldova R, Adamczyk B, Abrahams JL, Campbell MP, Ng CT, Veale DJ, Murphy TB, Rudd PM, Fitzgerald O
Rheumatology (Oxford) 2013 Sep;52(9):1572-82. Epub 2013 May 16 doi: 10.1093/rheumatology/ket189. PMID: 23681398

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
Montasser ME, Van Hout CV, Miloscio L, Howard AD, Rosenberg A, Callaway M, Shen B, Li N, Locke AE, Verweij N, De T, Ferreira MA, Lotta LA, Baras A, Daly TJ, Hartford SA, Lin W, Mao Y, Ye B, White D, Gong G, Perry JA, Ryan KA, Fang Q, Tzoneva G, Pefanis E, Hunt C, Tang Y, Lee L; Regeneron Genetics Center Collaboration‡, Sztalryd-Woodle C, Mitchell BD, Healy M, Streeten EA, Taylor SI, O'Connell JR, Economides AN, Della Gatta G, Shuldiner AR
Science 2021 Dec 3;374(6572):1221-1227. Epub 2021 Dec 2 doi: 10.1126/science.abe0348. PMID: 34855475
Twisselmann N, Bartsch YC, Pagel J, Wieg C, Hartz A, Ehlers M, Härtel C
Front Immunol 2018;9:3166. Epub 2019 Jan 18 doi: 10.3389/fimmu.2018.03166. PMID: 30713537Free PMC Article
Ruhaak LR, Uh HW, Beekman M, Koeleman CA, Hokke CH, Westendorp RG, Wuhrer M, Houwing-Duistermaat JJ, Slagboom PE, Deelder AM
PLoS One 2010 Sep 7;5(9):e12566. doi: 10.1371/journal.pone.0012566. PMID: 20830288Free PMC Article
Parekh R, Roitt I, Isenberg D, Dwek R, Rademacher T
J Exp Med 1988 May 1;167(5):1731-6. doi: 10.1084/jem.167.5.1731. PMID: 3367097Free PMC Article

Diagnosis

Wojcik I, Schmidt DE, de Neef LA, Rab MAE, Meek B, de Weerdt O, Wuhrer M, van der Schoot CE, Zwaginga JJ, de Haas M, Falck D, Vidarsson G
Sci Rep 2021 Dec 15;11(1):24045. doi: 10.1038/s41598-021-03196-w. PMID: 34911982Free PMC Article
Sonneveld ME, de Haas M, Koeleman C, de Haan N, Zeerleder SS, Ligthart PC, Wuhrer M, van der Schoot CE, Vidarsson G
Sci Rep 2017 Aug 15;7(1):8187. doi: 10.1038/s41598-017-08654-y. PMID: 28811589Free PMC Article
Sonneveld ME, Natunen S, Sainio S, Koeleman CA, Holst S, Dekkers G, Koelewijn J, Partanen J, van der Schoot CE, Wuhrer M, Vidarsson G
Br J Haematol 2016 Jul;174(2):310-20. Epub 2016 Mar 28 doi: 10.1111/bjh.14053. PMID: 27017954
Testa R, Vanhooren V, Bonfigli AR, Boemi M, Olivieri F, Ceriello A, Genovese S, Spazzafumo L, Borelli V, Bacalini MG, Salvioli S, Garagnani P, Dewaele S, Libert C, Franceschi C
PLoS One 2015;10(3):e0119983. Epub 2015 Mar 20 doi: 10.1371/journal.pone.0119983. PMID: 25793407Free PMC Article
Alley WR Jr, Vasseur JA, Goetz JA, Svoboda M, Mann BF, Matei DE, Menning N, Hussein A, Mechref Y, Novotny MV
J Proteome Res 2012 Apr 6;11(4):2282-300. Epub 2012 Mar 7 doi: 10.1021/pr201070k. PMID: 22304416Free PMC Article

Therapy

Morelle W, Potelle S, Witters P, Wong S, Climer L, Lupashin V, Matthijs G, Gadomski T, Jaeken J, Cassiman D, Morava E, Foulquier F
J Clin Endocrinol Metab 2017 Apr 1;102(4):1375-1386. doi: 10.1210/jc.2016-3443. PMID: 28323990Free PMC Article
Collins ES, Galligan MC, Saldova R, Adamczyk B, Abrahams JL, Campbell MP, Ng CT, Veale DJ, Murphy TB, Rudd PM, Fitzgerald O
Rheumatology (Oxford) 2013 Sep;52(9):1572-82. Epub 2013 May 16 doi: 10.1093/rheumatology/ket189. PMID: 23681398
Alley WR Jr, Vasseur JA, Goetz JA, Svoboda M, Mann BF, Matei DE, Menning N, Hussein A, Mechref Y, Novotny MV
J Proteome Res 2012 Apr 6;11(4):2282-300. Epub 2012 Mar 7 doi: 10.1021/pr201070k. PMID: 22304416Free PMC Article
Raju TS, Briggs JB, Chamow SM, Winkler ME, Jones AJ
Biochemistry 2001 Jul 31;40(30):8868-76. doi: 10.1021/bi010475i. PMID: 11467948
Charlwood J, Clayton P, Keir G, Mian N, Winchester B
Glycobiology 1998 Apr;8(4):351-7. doi: 10.1093/glycob/8.4.351. PMID: 9499382

Prognosis

Offersen R, Yu WH, Scully EP, Julg B, Euler Z, Sadanand S, Garcia-Dominguez D, Zheng L, Rasmussen TA, Jennewein MF, Linde C, Sassic J, Lofano G, Vigano S, Stephenson KE, Fischinger S, Suscovich TJ, Lichterfeld M, Lauffenburger D, Rosenberg ES, Allen T, Altfeld M, Charles RC, Østergaard L, Tolstrup M, Barouch DH, Søgaard OS, Alter G
Cell Rep 2020 Dec 15;33(11):108502. doi: 10.1016/j.celrep.2020.108502. PMID: 33326789
Sonneveld ME, Natunen S, Sainio S, Koeleman CA, Holst S, Dekkers G, Koelewijn J, Partanen J, van der Schoot CE, Wuhrer M, Vidarsson G
Br J Haematol 2016 Jul;174(2):310-20. Epub 2016 Mar 28 doi: 10.1111/bjh.14053. PMID: 27017954
Ruhaak LR, Uh HW, Beekman M, Koeleman CA, Hokke CH, Westendorp RG, Wuhrer M, Houwing-Duistermaat JJ, Slagboom PE, Deelder AM
PLoS One 2010 Sep 7;5(9):e12566. doi: 10.1371/journal.pone.0012566. PMID: 20830288Free PMC Article

Clinical prediction guides

Wojcik I, Schmidt DE, de Neef LA, Rab MAE, Meek B, de Weerdt O, Wuhrer M, van der Schoot CE, Zwaginga JJ, de Haas M, Falck D, Vidarsson G
Sci Rep 2021 Dec 15;11(1):24045. doi: 10.1038/s41598-021-03196-w. PMID: 34911982Free PMC Article
Offersen R, Yu WH, Scully EP, Julg B, Euler Z, Sadanand S, Garcia-Dominguez D, Zheng L, Rasmussen TA, Jennewein MF, Linde C, Sassic J, Lofano G, Vigano S, Stephenson KE, Fischinger S, Suscovich TJ, Lichterfeld M, Lauffenburger D, Rosenberg ES, Allen T, Altfeld M, Charles RC, Østergaard L, Tolstrup M, Barouch DH, Søgaard OS, Alter G
Cell Rep 2020 Dec 15;33(11):108502. doi: 10.1016/j.celrep.2020.108502. PMID: 33326789
Sonneveld ME, Natunen S, Sainio S, Koeleman CA, Holst S, Dekkers G, Koelewijn J, Partanen J, van der Schoot CE, Wuhrer M, Vidarsson G
Br J Haematol 2016 Jul;174(2):310-20. Epub 2016 Mar 28 doi: 10.1111/bjh.14053. PMID: 27017954
Alley WR Jr, Vasseur JA, Goetz JA, Svoboda M, Mann BF, Matei DE, Menning N, Hussein A, Mechref Y, Novotny MV
J Proteome Res 2012 Apr 6;11(4):2282-300. Epub 2012 Mar 7 doi: 10.1021/pr201070k. PMID: 22304416Free PMC Article
Crowell CK, Grampp GE, Rogers GN, Miller J, Scheinman RI
Biotechnol Bioeng 2007 Feb 15;96(3):538-49. doi: 10.1002/bit.21141. PMID: 16937399

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