Increased level of N-acetylneuraminic acid in fibroblasts

MedGen UID:: 1635268
•Concept ID:: C4703651
•: Finding

Synonyms:	Increased level of NANA in fibroblasts; Increased level of Neu5Ac in fibroblasts; Increased level of sialic acid in fibroblasts

HPO:	HP:0410157

Definition

An increase in the level of N-acetylneuraminic acid in cultured fibroblasts. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIncreased level of N-acetylneuraminic acid in fibroblasts

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal tissue metabolite concentration
    - Increased level of N-acetylneuraminic acid in fibroblasts

Recent clinical studies

Etiology

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

Spaapen LJ, Bakker JA, van der Meer SB, Sijstermans HJ, Steet RA, Wevers RA, Jaeken J
J Inherit Metab Dis 2005;28(5):707-14. doi: 10.1007/s10545-005-0015-z. PMID: 16151902

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Diagnosis

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

Spaapen LJ, Bakker JA, van der Meer SB, Sijstermans HJ, Steet RA, Wevers RA, Jaeken J
J Inherit Metab Dis 2005;28(5):707-14. doi: 10.1007/s10545-005-0015-z. PMID: 16151902

The effects of sialic acid on the gene expression of fibrillar collagens: different changes in normal and fibrotic scar derived fibroblasts.

Kössi J, Aalto J, Haataja S, Niinikoski J, Peltonen J, Laato M
Ann Chir Gynaecol 2001;90 Suppl 215:25-8. PMID: 12041923

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA
Am J Hum Genet 2001 Jun;68(6):1419-27. Epub 2001 Apr 18 doi: 10.1086/320598. PMID: 11326336 Free PMC Article

An sLex-deficient variant of HL60 cells exhibits high levels of adhesion to vascular selectins: further evidence that HECA-452 and CSLEX1 monoclonal antibody epitopes are not essential for high avidity binding to vascular selectins.

Wagers AJ, Stoolman LM, Craig R, Knibbs RN, Kansas GS
J Immunol 1998 May 15;160(10):5122-9. PMID: 9590264

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Therapy

Endogenous sialic acid-engineered micelles: a multifunctional platform for on-demand methotrexate delivery and bone repair of rheumatoid arthritis.

Xu XL , Li WS , Wang XJ , Du YL , Kang XQ , Hu JB , Li SJ , Ying XY , You J , Du YZ
Nanoscale 2018 Feb 8;10(6):2923-2935. doi: 10.1039/c7nr08430g. PMID: 29369319

Synthesis, characterization and targeting potential of zidovudine loaded sialic acid conjugated-mannosylated poly(propyleneimine) dendrimers.

Gajbhiye V, Ganesh N, Barve J, Jain NK
Eur J Pharm Sci 2013 Mar 12;48(4-5):668-79. Epub 2013 Jan 5 doi: 10.1016/j.ejps.2012.12.027. PMID: 23298577

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