Chemistry Reference
In-Depth Information
Summary Box
Many diseases of glycosylation have been described over the last decade. These
diseases represent different clinical entities, which refl ect the diverse involve-
ments of glycans in regulating organ functions. Most diseases of glycosylation
are caused by mutations in glycosyltransferase genes, but defects in nucleotide-
sugar transporters and in vesicular transport proteins also lead to disorders of
glycosylation.
References
6
1
Freeze HH . Genetic defects in the human
glycome .
Nat Rev Gen
2006 ; 7 : 537 - 51 .
Jaeken J , Matthijs G . Congenital disorders
of glycosylation: a rapidly expanding dis-
ease family.
Annu Rev Genomics Hum
Genet
2007 ; 8 : 261 - 78 .
Razzaque MS , Lanske B . The emerging
role of the fi broblast growth factor - 23 -
klotho axis in renal regulation of phos-
phate homeostasis.
J Endocrinol
2007 ; 194 :
1 - 10 .
Barresi R , Campbell KP . Dystroglycan:
from biosynthesis to pathogenesis of hu-
man disease.
J Cell Sci
2006 ; 119 : 199 - 207 .
Haines N , Irvine KD . Glycosylation regu-
lates Notch signalling.
Nat Rev Mol Cell
Biol
2003 ; 4 : 786 - 97 .
Duncan G
et al.
The link between heparan
sulfate and hereditary bone disease: fi nding
a function for the EXT family of putative
tumor suppressor proteins.
J Clin Invest
2001 ; 108 : 511 - 6 .
Kusche - Gullberg M , Kjellen L . Sulfotrans-
ferases in glycosaminoglycan biosynthesis.
Curr Opin Struct Biol
2003 ; 13 : 605 - 11 .
Luzzatto L
et al.
Somatic mutations in par-
oxysmal nocturnal hemoglobinuria: a bless-
ing in disguise?
Cell
1997 ; 88 : 1 - 4 .
Becker DJ , Lowe JB . Fucose: biosynthesis
and biological function in mammals.
Glyco-
biology
2003 ; 13 : 41R - 53R .
Ungar D
et al.
Retrograde transport on
the COG railway.
Trends Cell Biol
2006 ; 16 :
113 - 20 .
2
7
3
8
9
4
10
5
