Abnormal mannosylation of N-linked protein glycosylation

MedGen UID:: 868537
•Concept ID:: C4022936
•: Finding

HPO:	HP:0012355

Definition

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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal mannosylation of N-linked protein glycosylation

Phenotypic abnormality
- 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
        Increased mannosylation of N-linked protein glycosylation

Recent clinical studies

Etiology

Abnormal N-linked glycosylation of cortical AMPA receptor subunits in schizophrenia.

Tucholski J, Simmons MS, Pinner AL, Haroutunian V, McCullumsmith RE, Meador-Woodruff JH
Schizophr Res 2013 May;146(1-3):177-83. Epub 2013 Feb 23 doi: 10.1016/j.schres.2013.01.031. PMID: 23462048 Free PMC Article

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Diagnosis

Abnormal N-linked glycosylation of cortical AMPA receptor subunits in schizophrenia.

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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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Clinical prediction guides

Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.

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: 34831340 Free PMC Article

High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.

Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR
Eur J Ophthalmol 2006 Jan-Feb;16(1):190-4. doi: 10.1177/112067210601600134. PMID: 16496270

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Abnormal mannosylation of N-linked protein glycosylation

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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