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, ...
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)