Decreased mannosylation of N-linked protein glycosylation

MedGen UID:: 868536
•Concept ID:: C4022935
•: Finding

HPO:	HP:0012356

Definition

Reduced addition of mannose to N-linked glycans. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDecreased mannosylation of N-linked protein glycosylation

Abnormality of metabolism/homeostasis
- Abnormal metabolism
  - Abnormal glycosylation
    - Abnormal protein glycosylation
      - Abnormal protein N-linked glycosylation
        Abnormal mannosylation of N-linked protein glycosylation
        Decreased mannosylation of N-linked protein glycosylation

Recent clinical studies

Etiology

Characterization of spontaneously generated prion-like conformers in cultured cells.

Zou RS, Fujioka H, Guo JP, Xiao X, Shimoji M, Kong C, Chen C, Tasnadi M, Voma C, Yuan J, Moudjou M, Laude H, Petersen RB, Zou WQ
Aging (Albany NY) 2011 Oct;3(10):968-84. doi: 10.18632/aging.100370. PMID: 21990137 Free PMC Article

Biosynthesis and intracellular transport of the receptor for platelet-derived growth factor.

Claesson-Welsh L, Rönnstrand L, Heldin CH
Proc Natl Acad Sci U S A 1987 Dec;84(24):8796-800. doi: 10.1073/pnas.84.24.8796. PMID: 2827155 Free PMC Article

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Diagnosis

Increased levels and defective glycosylation of MRPs in ovarian carcinoma cells resistant to oxaliplatin.

Beretta GL, Benedetti V, Cossa G, Assaraf YG, Bram E, Gatti L, Corna E, Carenini N, Colangelo D, Howell SB, Zunino F, Perego P
Biochem Pharmacol 2010 Apr 15;79(8):1108-17. Epub 2009 Dec 31 doi: 10.1016/j.bcp.2009.12.002. PMID: 20005867

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Therapy

Abnormal N-acetylglucosaminyltransferase expression in prefrontal cortex in schizophrenia.

Kippe JM, Mueller TM, Haroutunian V, Meador-Woodruff JH
Schizophr Res 2015 Aug;166(1-3):219-24. Epub 2015 Jun 20 doi: 10.1016/j.schres.2015.06.002. PMID: 26104473 Free PMC Article

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Prognosis

Glycosylation of {beta}2 subunits regulates GABAA receptor biogenesis and channel gating.

Lo WY, Lagrange AH, Hernandez CC, Harrison R, Dell A, Haslam SM, Sheehan JH, Macdonald RL
J Biol Chem 2010 Oct 8;285(41):31348-61. Epub 2010 Jul 16 doi: 10.1074/jbc.M110.151449. PMID: 20639197 Free PMC Article

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Clinical prediction guides

N-Glycosylation of Asparagine 130 in the Extracellular Domain of the Human Calcitonin Receptor Significantly Increases Peptide Hormone Affinity.

Lee SM, Booe JM, Gingell JJ, Sjoelund V, Hay DL, Pioszak AA
Biochemistry 2017 Jul 5;56(26):3380-3393. Epub 2017 Jun 26 doi: 10.1021/acs.biochem.7b00256. PMID: 28614667 Free PMC Article

Characterization of spontaneously generated prion-like conformers in cultured cells.

Glycosylation of {beta}2 subunits regulates GABAA receptor biogenesis and channel gating.

Increased levels and defective glycosylation of MRPs in ovarian carcinoma cells resistant to oxaliplatin.

A 12-kilodalton N-glycosylated growth hormone-related peptide is present in human pituitary extracts.

Diaz MJ, Dominguez F, Haro LS, Ling N, Devesa J
J Clin Endocrinol Metab 1993 Jul;77(1):134-8. doi: 10.1210/jcem.77.1.8325936. PMID: 8325936

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