From glycosylation disorders back to glycosylation: what have we learned?

@article{Hennet2009FromGD,
  title={From glycosylation disorders back to glycosylation: what have we learned?},
  author={Thierry Hennet},
  journal={Biochimica et biophysica acta},
  year={2009},
  volume={1792 9},
  pages={
          921-4
        }
}
Diseases of glycosylation have long remained confined to the rare hematological disorders, the Tn-syndrome and paroxysmal nocturnal hemoglobinuria. This rarity was often interpreted as a sign that defects of glycosylation are either lethal, or remain asymptomatic because of the large redundancy found in glycosylation pathways. The description of multiple glycosylation disorders over the last years has definitively settled the issue and demonstrated the broad range of biological processes… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 47 REFERENCES

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Iris Eisenberg, Nili Avidan, +17 authors Stella Mitrani-Rosenbaum
  • Nature Genetics
  • 2001
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

R

E. Schollen, L. Keldermanns
  • Reyntjens, C.G. Frank, C.E. Grubenmann, P.T. Clayton, B.G.Winchester, J.A.M. Smeitink, R.A.Wevers, M. Aebi, T. Hennet, G.Matthijs, Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency), J. Med. Genet. 41
  • 2004
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

H

I. Chantret, J. Dancourt, +3 authors S. Vuillaumier-Barrot
  • Ogier de Baulny, C. Peletan, O. Danos, N. Seta, G. Durand, R. Oriol, P. Codogno, S.E. Moore, A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3glucosyltransferase defines a new subtype of congenital disorders of glycosylation, J. Biol. Chem. 278
  • 2003
VIEW 5 EXCERPTS
HIGHLY INFLUENTIAL

Tn-syndrome

E. G. Berger
  • Biochim. Biophys. Acta 1455
  • 1999
VIEW 2 EXCERPTS
HIGHLY INFLUENTIAL

Lehle , Yeast oligosaccharyltransferase consists of two functionally distinct subcomplexes , speci fi ed by either the Ost 3 p or Ost 6 p subunit ,

R. Knauer M. Schwarz, L.
  • FEBS Lett .
  • 2008