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Abnormal protein glycosylation

MedGen UID:
868546
Concept ID:
C4022945
Finding
HPO: HP:0012346

Definition

An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal protein glycosylation

Professional guidelines

PubMed

Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC
J Inherit Metab Dis 2022 Sep;45(5):969-980. Epub 2022 Jun 30 doi: 10.1002/jimd.12527. PMID: 35716054Free PMC Article
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E
J Inherit Metab Dis 2021 Jan;44(1):148-163. Epub 2020 Sep 15 doi: 10.1002/jimd.12286. PMID: 32681750Free PMC Article
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Recent clinical studies

Etiology

Zheng Y, Gao K, Gao Q, Zhang S
Expert Rev Proteomics 2023 Jul-Dec;20(10):211-220. Epub 2023 Oct 27 doi: 10.1080/14789450.2023.2265064. PMID: 37882248
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ
Am J Hum Genet 2016 Feb 4;98(2):310-21. Epub 2016 Jan 28 doi: 10.1016/j.ajhg.2015.12.010. PMID: 26833332Free PMC Article
Van Scherpenzeel M, Willems E, Lefeber DJ
Glycoconj J 2016 Jun;33(3):345-58. Epub 2016 Jan 7 doi: 10.1007/s10719-015-9639-x. PMID: 26739145Free PMC Article
Costa C, Pereira S, Lima L, Peixoto A, Fernandes E, Neves D, Neves M, Gaiteiro C, Tavares A, Gil da Costa RM, Cruz R, Amaro T, Oliveira PA, Ferreira JA, Santos LL
PLoS One 2015;10(11):e0141253. Epub 2015 Nov 16 doi: 10.1371/journal.pone.0141253. PMID: 26569621Free PMC Article
Bełtowski J, Wójcicka G, Jamroz-Wiśniewska A
Curr Drug Saf 2009 Sep;4(3):209-28. Epub 2009 Sep 1 doi: 10.2174/157488609789006949. PMID: 19534648

Diagnosis

Zheng Y, Gao K, Gao Q, Zhang S
Expert Rev Proteomics 2023 Jul-Dec;20(10):211-220. Epub 2023 Oct 27 doi: 10.1080/14789450.2023.2265064. PMID: 37882248
Xu M, Jin H, Ge W, Zhao L, Liu Z, Guo Z, Wu Z, Chen J, Mao C, Zhang X, Liu CF, Yang S
ACS Chem Neurosci 2023 Sep 20;14(18):3507-3517. Epub 2023 Sep 7 doi: 10.1021/acschemneuro.3c00404. PMID: 37677068
Vajro P, Zielinska K, Ng BG, Maccarana M, Bengtson P, Poeta M, Mandato C, D'Acunto E, Freeze HH, Eklund EA
Orphanet J Rare Dis 2018 Jan 10;13(1):4. doi: 10.1186/s13023-017-0757-3. PMID: 29321044Free PMC Article
Van Scherpenzeel M, Willems E, Lefeber DJ
Glycoconj J 2016 Jun;33(3):345-58. Epub 2016 Jan 7 doi: 10.1007/s10719-015-9639-x. PMID: 26739145Free PMC Article
Costa C, Pereira S, Lima L, Peixoto A, Fernandes E, Neves D, Neves M, Gaiteiro C, Tavares A, Gil da Costa RM, Cruz R, Amaro T, Oliveira PA, Ferreira JA, Santos LL
PLoS One 2015;10(11):e0141253. Epub 2015 Nov 16 doi: 10.1371/journal.pone.0141253. PMID: 26569621Free PMC Article

Therapy

Bełtowski J, Wójcicka G, Jamroz-Wiśniewska A
Curr Drug Saf 2009 Sep;4(3):209-28. Epub 2009 Sep 1 doi: 10.2174/157488609789006949. PMID: 19534648

Prognosis

Hu F, Gao J, Zheng J, Kwoh C, Jia C
Methods 2024 Jul;227:48-57. Epub 2024 May 10 doi: 10.1016/j.ymeth.2024.05.002. PMID: 38734394
Zheng Y, Gao K, Gao Q, Zhang S
Expert Rev Proteomics 2023 Jul-Dec;20(10):211-220. Epub 2023 Oct 27 doi: 10.1080/14789450.2023.2265064. PMID: 37882248
Vajro P, Zielinska K, Ng BG, Maccarana M, Bengtson P, Poeta M, Mandato C, D'Acunto E, Freeze HH, Eklund EA
Orphanet J Rare Dis 2018 Jan 10;13(1):4. doi: 10.1186/s13023-017-0757-3. PMID: 29321044Free PMC Article
Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH
Am J Med Genet A 2017 Oct;173(10):2758-2762. Epub 2017 Aug 4 doi: 10.1002/ajmg.a.38374. PMID: 28777481
Costa C, Pereira S, Lima L, Peixoto A, Fernandes E, Neves D, Neves M, Gaiteiro C, Tavares A, Gil da Costa RM, Cruz R, Amaro T, Oliveira PA, Ferreira JA, Santos LL
PLoS One 2015;10(11):e0141253. Epub 2015 Nov 16 doi: 10.1371/journal.pone.0141253. PMID: 26569621Free PMC Article

Clinical prediction guides

Hu F, Gao J, Zheng J, Kwoh C, Jia C
Methods 2024 Jul;227:48-57. Epub 2024 May 10 doi: 10.1016/j.ymeth.2024.05.002. PMID: 38734394
Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF
Am J Hum Genet 2016 Feb 4;98(2):339-46. Epub 2016 Jan 21 doi: 10.1016/j.ajhg.2015.12.007. PMID: 26805780Free PMC Article
Van Scherpenzeel M, Willems E, Lefeber DJ
Glycoconj J 2016 Jun;33(3):345-58. Epub 2016 Jan 7 doi: 10.1007/s10719-015-9639-x. PMID: 26739145Free PMC Article
Costa C, Pereira S, Lima L, Peixoto A, Fernandes E, Neves D, Neves M, Gaiteiro C, Tavares A, Gil da Costa RM, Cruz R, Amaro T, Oliveira PA, Ferreira JA, Santos LL
PLoS One 2015;10(11):e0141253. Epub 2015 Nov 16 doi: 10.1371/journal.pone.0141253. PMID: 26569621Free PMC Article
Sun N, Deng C, Li Y, Zhang X
Anal Chem 2014 Feb 18;86(4):2246-50. Epub 2014 Feb 5 doi: 10.1021/ac404103r. PMID: 24460129

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