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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

ALG3  -  ALG3, alpha-1,3- mannosyltransferase

Homo sapiens

Synonyms: Asparagine-linked glycosylation protein 3 homolog, CDG1D, CDGS4, D16Ertd36e, Dol-P-Man-dependent alpha(1-3)-mannosyltransferase, ...
 
 
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Disease relevance of ALG3

 

Psychiatry related information on ALG3

  • An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id) [2].
 

High impact information on ALG3

  • The mannosyltransferase is the structural and functional orthologue of the Saccharomyces cerevisiae ALG3 gene [1].
  • Lentiviral complementation with wild-type hALG3 corrects the biochemical defect in the patient's fibroblasts [3].
  • C-II also corrected impaired LLO biosynthesis in cells from a Dolichol (Dol)-P-Man deficient patient (CDG-Ie) and partially corrected LLO in cells from an ALG12 mannosyltransferase-deficient patient (CDG-Ig), whereas cells from an ALG3-deficient patient (CDG-Id) and from an MPDU1-deficient patient (CDG-If) were not corrected [4].
  • The C-terminal portion of PS2 is a homologue with an apoptosis-linked gene (ALG-3) [5].
  • We report on a patient with a congenital disorder of glycosylation type Id (CDG-Id) caused by a homozygous mutation in the ALG3 gene, which results from a de novo mutation in combination with a segmental maternal uniparental isodisomy (UPD) [6].
 

Biological context of ALG3

 

Anatomical context of ALG3

 

Associations of ALG3 with chemical compounds

  • However, suppression of NMD using cycloheximide had no influence on ALG3 transcript levels, although the PTCs of the transcript fulfill the criteria for the initiation of NMD [2].
 

Other interactions of ALG3

  • It was 85% at 1 year, 70% at 3 years, and 62% at 5 years in the ALG 2 regimen group and 87% at 1 year and 67% at 3 years in the ALG 3 regimen group [7].

References

  1. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. Körner, C., Knauer, R., Stephani, U., Marquardt, T., Lehle, L., von Figura, K. EMBO J. (1999) [Pubmed]
  2. An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). Denecke, J., Kranz, C., Kemming, D., Koch, H.G., Marquardt, T. Hum. Mutat. (2004) [Pubmed]
  3. Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. Sun, L., Eklund, E.A., Chung, W.K., Wang, C., Cohen, J., Freeze, H.H. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  4. Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. Eklund, E.A., Merbouh, N., Ichikawa, M., Nishikawa, A., Clima, J.M., Dorman, J.A., Norberg, T., Freeze, H.H. Glycobiology (2005) [Pubmed]
  5. Overexpression of a C-terminal fragment of presenilin 1 delays anti-Fas induced apoptosis in Jurkat cells. Vézina, J., Tschopp, C., Andersen, E., Müller, K. Neurosci. Lett. (1999) [Pubmed]
  6. CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter). Schollen, E., Grünewald, S., Keldermans, L., Albrecht, B., Körner, C., Matthijs, G. European journal of medical genetics. (2005) [Pubmed]
  7. Immunosuppressive treatment of primary cadaveric renal transplant patients receiving kidneys from non-heart beating donors. Ohshima, S., Fujita, T., Ono, Y., Kinukawa, T., Katoh, N., Matsuura, O. Artificial organs. (1996) [Pubmed]
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